Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Broad nasal tip... |
ORPHA:166016 |
Brachydactyly, Type A1, D |
|
Short proximal phalanx of thumb, Short proximal phalanx of finger, Short middle phalanx of the 5t... |
OMIM:616849 |
Eiken Syndrome |
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Delayed epiphyseal ossification, Limited elbow flexion, Abnormal bone ossification, Short palm, S... |
ORPHA:79106 |
Acromesomelic Dysplasia 2A |
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Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... |
OMIM:200700 |
Leri-Weill Dyschondrosteosis |
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Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... |
OMIM:127300 |
Robin Sequence-Oligodactyly Syndrome |
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Abnormal morphology of ulna, Abnormality of the dentition, Micrognathia, Hand oligodactyly, Cleft... |
ORPHA:3104 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
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Hypoplasia of the ulna, Broad hallux, Talipes, Ovoid vertebral bodies, Abnormality of the vertebr... |
ORPHA:1856 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
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Micromelia, Depressed nasal ridge, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae... |
OMIM:118651 |
Rhizomelic Dysplasia, Ain-Naz Type |
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Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap... |
OMIM:619598 |
Osebold-Remondini Syndrome |
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Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... |
OMIM:112910 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
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Mandibular prognathia, Short humerus, Short metacarpal, Wide nose, Rhizomelia, Hyperlordosis, Dep... |
ORPHA:2831 |
Ulna Metaphyseal Dysplasia Syndrome |
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Abnormal dental morphology, Abnormal morphology of ulna, Abnormality of the dentition, Depressed ... |
ORPHA:1837 |
Acrocapitofemoral Dysplasia |
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Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... |
OMIM:607778 |
Femoral-Facial Syndrome |
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Micrognathia, Coxa vara, Orofacial cleft, Sprengel anomaly, Vertebral segmentation defect, Aplasi... |
ORPHA:1988 |
Brachydactyly Type A1 |
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Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl... |
ORPHA:93388 |
Acromesomelic Dysplasia, Maroteaux Type |
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Bowing of the long bones, Depressed nasal bridge, Ovoid vertebral bodies, Joint stiffness, Hyperl... |
ORPHA:40 |
Symbrachydactyly Of Hands And Feet |
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Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia... |
ORPHA:1570 |
Atelosteogenesis, Type I |
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Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonat... |
OMIM:108720 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
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Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Fibrochondrogenesis 1 |
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Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior v... |
OMIM:228520 |
Faciocardiomelic Dysplasia, Lethal |
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Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Single transverse palmar crease, M... |
OMIM:227270 |
Omodysplasia 2 |
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Short humerus, Tented upper lip vermilion, Depressed nasal bridge, Bilateral cleft lip, Micrognat... |
OMIM:164745 |
Spondyloperipheral Dysplasia |
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Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular... |
OMIM:271700 |
Acrodysostosis |
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Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Short metatarsal, Depressed nasal r... |
ORPHA:950 |
Congenital Radioulnar Synostosis |
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Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Langer Mesomelic Dysplasia |
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Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi... |
OMIM:249700 |
Metaphyseal Anadysplasia |
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Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Abnormality of the lower ... |
ORPHA:1040 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Absent radius, Elbow dislocation,... |
OMIM:171480 |
Ophthalmomandibulomelic Dysplasia |
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Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Temporomandibular joint... |
OMIM:164900 |
Lethal Faciocardiomelic Dysplasia |
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Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Acromesomelic Dysplasia 2C |
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Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
Brachydactyly, Type C |
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Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
Spondylometaphyseal Dysplasia, Type A4 |
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Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... |
OMIM:609052 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
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Short humerus, Short femur, Rhizomelia, Epiphyseal stippling |
OMIM:600121 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
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Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Fibular Hemimelia |
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Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Thiemann Disease, Familial Form |
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Abnormal metaphysis morphology, Limitation of joint mobility, Abnormal epiphysis morphology, Brac... |
ORPHA:3314 |
Cleidorhizomelic Syndrome |
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Abnormal clavicle morphology, Rhizomelia, Bilateral single transverse palmar creases, Short middl... |
ORPHA:1453 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Acrofacial Dysostosis, RodrÃguez Type |
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Microretrognathia, Finger syndactyly, Prominent nasal bridge, Hand oligodactyly, Fibular hypoplas... |
ORPHA:1788 |
Acromesomelic Dysplasia, Grebe Type |
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Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa... |
ORPHA:2098 |
Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... |
ORPHA:1263 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
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Short humerus, Swan neck-like deformities of the fingers, Thoracic scoliosis, Coxa vara, Contract... |
OMIM:616716 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
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Finger syndactyly, Abnormality of the philtrum, Abnormality of the dentition, Abnormality of the ... |
ORPHA:3268 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... |
ORPHA:750 |
Heart-Hand Syndrome Type 2 |
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Aplasia/Hypoplasia of the thumb, Abnormal clavicle morphology, Abnormal morphology of ulna, Micro... |
ORPHA:1350 |
Syndactyly Type 2 |
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Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Microphthalmia With Limb Anomalies |
|
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp... |
OMIM:206920 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Pes planus, Tapered finger, Short neck, Hip dislocation, Th... |
OMIM:618395 |
Kyphomelic Dysplasia |
|
Micromelia, Micrognathia, Lateral clavicle hook, Femoral bowing, Tibial bowing, Short metacarpal,... |
OMIM:211350 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Absent forearm, Overlapping toe, Single transverse palmar crease, Micrognathia,... |
OMIM:201170 |
3M Syndrome |
|
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ... |
ORPHA:2616 |
Femur-Fibula-Ulna Complex |
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Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Split hand, Humeroradi... |
ORPHA:2019 |
Atelosteogenesis, Type Ii |
|
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increased intervertebral space, Death in... |
OMIM:256050 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... |
ORPHA:93405 |
Weismann-Netter Syndrome |
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Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... |
ORPHA:3344 |
Mental Retardation Syndrome, Mietens-Weber Type |
|
Pes planus, Elbow flexion contracture, Forearm undergrowth, Absent proximal radial epiphyses, Nar... |
OMIM:249600 |
Seckel Syndrome 1 |
|
Dental crowding, Selective tooth agenesis, Abnormal finger flexion crease, Micrognathia, Single t... |
OMIM:210600 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Narrow greater sciatic ... |
OMIM:156530 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal metacarpal morphology, Abnormal form of the vertebral bodies, Reduced bone mineral densi... |
ORPHA:2370 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of ... |
OMIM:613091 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Hypoplasia of the odontoid p... |
OMIM:609813 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Micrognathia, Short neck, Hemivertebrae, Orofacial cleft, Pectus ca... |
ORPHA:958 |
Acromicric Dysplasia |
|
Short metacarpal, Brachydactyly, Anteverted nares, Ovoid vertebral bodies, Joint stiffness, Narro... |
ORPHA:969 |
Thiemann Disease |
|
Broad phalanx, Short phalanx of finger |
OMIM:165700 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Short humerus, Rhizomelia, Anteverted nares, Depressed nasal bridge, Micrognathia, Su... |
OMIM:222765 |
Atelosteogenesis Type Ii |
|
Cervical kyphosis, Micromelia, Micrognathia, Short neck, Tracheobronchomalacia, Narrow chest, Sho... |
ORPHA:56304 |
Cenani-Lenz Syndrome |
|
Micromelia, High, narrow palate, Abnormal form of the vertebral bodies, Short philtrum, Foot olig... |
ORPHA:3258 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... |
OMIM:226900 |
Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Pectus carinatum, Hypercon... |
OMIM:184255 |
Ruvalcaba Syndrome |
|
Short metacarpal, Inguinal hernia, Micromelia, Underdeveloped nasal alae, Cryptorchidism, Kyphosi... |
OMIM:180870 |
Brachydactyly Type A7 |
|
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... |
ORPHA:93397 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Osteopenia, Dental crowding, High palate, Clinodactyly of the 5th finger, Conductive hearing impa... |
OMIM:617877 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Micrognathia, Short metatarsal, Pectus carinatum, Irregular vertebral endplat... |
OMIM:618150 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Lumbar hyperlordosis, Mi... |
OMIM:602471 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap... |
OMIM:618167 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Carpenter Syndrome 1 |
|
External genital hypoplasia, Duplication of the proximal phalanx of the hallux, Micrognathia, Hyp... |
OMIM:201000 |
Campomelic Dysplasia |
|
Micrognathia, Short neck, Tibial bowing, Femoral bowing, Narrow chest, Hypoplastic inferior ilia,... |
ORPHA:140 |
Brachydactyly, Type A2 |
|
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... |
OMIM:112600 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Micrognathia, Short neck, Reduced bone mineral density, Glosso... |
ORPHA:94068 |
Radioulnar Synostosis, Unilateral, With Developmental Retardation And Hypotonia |
|
Radioulnar synostosis, Prominent nose, Dislocated radial head |
OMIM:266255 |
Cenani-Lenz Syndactyly Syndrome |
|
Premature loss of permanent teeth, Hypoplasia of the ulna, Syndactyly, Broad hallux, Micrognathia... |
OMIM:212780 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Narrow nasal bridge, Abnormal morphology of the radius, Brachydactyly, Bilateral single transvers... |
ORPHA:2639 |
Dysspondyloenchondromatosis |
|
Kyphoscoliosis, Lower limb asymmetry, Osteoarthritis, Generalized joint laxity, Abnormal fibula m... |
ORPHA:85198 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Prominent nose, Aplasia of the epiglottis, High palate... |
OMIM:268305 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Anteverted nares, Depressed nasal bridge, Increased intervertebral space, Thoracic... |
OMIM:618961 |
Brachydactyly, Type A1, C |
|
Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi... |
OMIM:615072 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Median cleft lip, Broad nasal tip, Bifid nasal tip, Cleft palate, High palate, Polyda... |
OMIM:300484 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca... |
ORPHA:1106 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Short neck, Glosso... |
OMIM:611209 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Micrognathia, Multiple prenatal fractures, Short neck, Beaded ribs, Flexion contractu... |
OMIM:616897 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Eruption failure, Oligodontia, Pseudoepiphyses, Short philtrum, ... |
OMIM:600002 |
Achondroplasia |
|
Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great... |
OMIM:100800 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in... |
ORPHA:75508 |
Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Abnormal vertebral morphol... |
OMIM:142900 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Sacral dimple, Bilateral single transverse palmar creases, Abnormal morphology... |
ORPHA:2633 |
Brachydactyly, Type A3 |
|
Type A brachydactyly, Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphy... |
OMIM:112700 |
Ritscher-Schinzel Syndrome 3 |
|
Thin upper lip vermilion, Hypoplasia of the ulna, Death in infancy, Anteverted nares, Micrognathi... |
OMIM:619135 |
Orofaciodigital Syndrome Type 10 |
|
Micrognathia, Short neck, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation o... |
ORPHA:2756 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Abnormal thorax morphology, Cleft palate, Upper limb phocomelia, Abnormality of the v... |
ORPHA:294975 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Depressed nasal bridge, Mi... |
ORPHA:166272 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Brachydactyly, Rhizomelia, Depressed nasal bridge, Micrognathia, Abnorma... |
ORPHA:3098 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Short metacarpal, Pes planus, Ovoid vertebral bodies, Joint stiffness, Avas... |
OMIM:132400 |
Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab... |
ORPHA:429 |
Brachydactyly, Type A1 |
|
Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi... |
OMIM:112500 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
Van Bogaert-Hozay Syndrome |
|
Depressed nasal bridge, Micrognathia, Osteolytic defects of the phalanges of the hand, Tooth malp... |
OMIM:277150 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Mesomelia, Ve... |
ORPHA:2631 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Depressed nasal bridge, Camptodactyly of finger, Microme... |
ORPHA:2635 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Abnormal scapula morphology, Aplasia/hypoplasia of the humerus, Aplasia/Hypopl... |
ORPHA:2141 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Micrognathia, Joint sti... |
ORPHA:1801 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hemivertebrae, Rib fusion, Short r... |
OMIM:173800 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Long thorax, Mesomelia, Convex nasal ... |
ORPHA:1277 |
Codas Syndrome |
|
Congenital hip dislocation, Proximal placement of thumb, Broad skull, Generalized joint laxity, A... |
OMIM:600373 |
Sugarman Brachydactyly |
|
Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... |
OMIM:272150 |
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
|
Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o... |
OMIM:182255 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Hemivertebrae, Clitoral hy... |
OMIM:268310 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pectus excavatum, Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow... |
OMIM:184260 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Thoracic scoliosis, Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip ... |
ORPHA:166011 |
Acromicric Dysplasia |
|
Short metacarpal, Anteverted nares, Ovoid vertebral bodies, Narrow mouth, Deep philtrum, Thick lo... |
OMIM:102370 |
Ulnar Hypoplasia With Mental Retardation |
|
Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement |
OMIM:276821 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... |
ORPHA:3246 |
Hypochondroplasia |
|
Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Depressed nasal bridge, Apl... |
OMIM:146000 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Talipes, Micromelia, Joint stiffness, Metatarsus ad... |
ORPHA:2249 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal w... |
OMIM:608940 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Macrodontia, Small hand, Short foot, High palate, Short 5th finger, Cubitus valgus, Clinodactyly,... |
OMIM:300577 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... |
OMIM:609616 |
Anauxetic Dysplasia 2 |
|
Metaphyseal dysplasia, Hypoplasia of the femoral head, Thoracolumbar kyphoscoliosis, Ovoid verteb... |
OMIM:617396 |
Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... |
OMIM:271530 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Micrognathia, Knee dislocation, Irregular epiphyses of the metacarpals, Short metacarpal, Hitchhi... |
OMIM:614078 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,... |
OMIM:609945 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Micrognathia, Malrotation of colon, Abnormal ossification involving the ... |
ORPHA:1190 |
Metaphyseal Acroscyphodysplasia |
|
Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga... |
ORPHA:1240 |
Tetrasomy X |
|
Abnormality of the dentition, Joint hyperflexibility, Radioulnar synostosis, Hip dysplasia, Clino... |
ORPHA:9 |
Weill-Marchesani Syndrome 2 |
|
Hypoplasia of the maxilla, Broad skull, Short metatarsal, Brachycephaly, High palate, Shallow orb... |
OMIM:608328 |
Microcephaly-Micromelia Syndrome |
|
Wide nose, Micromelia, Absent thumb, Absent radius, Micrognathia, Missing ribs, Humeroradial syno... |
OMIM:251230 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Micro... |
ORPHA:63446 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Abnormal dental morpholog... |
ORPHA:2878 |
Autosomal Dominant Omodysplasia |
|
Short humerus, Rhizomelia, Depressed nasal bridge, Micrognathia, Elbow dislocation, Patellar disl... |
ORPHA:93328 |
Pseudoachondroplasia |
|
Genu recurvatum, Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphys... |
OMIM:177170 |
Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteoscle... |
ORPHA:2790 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... |
OMIM:228900 |
Acrorenal Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A... |
ORPHA:971 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing... |
OMIM:613848 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Short tibia, Depressed nasal brid... |
OMIM:620076 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Optic atrophy |
ORPHA:2253 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Joint laxity, Syndactyly, Brachydactyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Craniosyno... |
OMIM:619451 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Micrognathia, Short neck, Orofacial cleft, Pectu... |
ORPHA:1507 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Becker Nevus Syndrome |
|
Micromelia, Lower limb asymmetry, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusi... |
ORPHA:64755 |
Mietens Syndrome |
|
Hypoplasia of the ulna, Wide nose, Talipes, Coxa valga, Metatarsus adductus, Avascular necrosis o... |
ORPHA:2557 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Deafness, Autosomal Dominant 85 |
|
Sensorineural hearing impairment, Cochlear nerve hypoplasia |
OMIM:620227 |
Familial Digital Arthropathy-Brachydactyly |
|
Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges... |
ORPHA:85169 |
Radioulnar Synostosis, Nonsyndromic, Susceptibility To |
|
Radioulnar synostosis, Limited pronation/supination of forearm |
OMIM:179300 |
Multiple Synostoses Syndrome |
|
Bilateral single transverse palmar creases, Joint stiffness, Symphalangism affecting the phalange... |
ORPHA:3237 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contract... |
ORPHA:93307 |
Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Prominent nose, Kyphosis, Thick ... |
OMIM:234250 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Depressed nasal bridge, Aplasia/Hypoplasia of the fibu... |
ORPHA:2256 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Thin upper lip vermilion, Hypoplasia of the ulna, Wide nose, Micrognathia, Everted lower lip verm... |
ORPHA:357175 |
Van Den Ende-Gupta Syndrome |
|
Dental crowding, Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, High, narrow pala... |
OMIM:600920 |
Digital Arthropathy-Brachydactyly, Familial |
|
Brachytelomesophalangy, Short middle phalanx of finger, Radial deviation of finger, Short distal ... |
OMIM:606835 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... |
ORPHA:85170 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... |
ORPHA:52056 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me... |
OMIM:602111 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Thin upper lip vermilion, Hypoplasia of the ulna, Wide nose, Micrognathia, Downturned corners of ... |
OMIM:615162 |
Brachydactyly Type A2 |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f... |
ORPHA:93396 |
Ulnar Hypoplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... |
OMIM:191440 |
Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Osteoarthritis, Short ... |
OMIM:251450 |
Weill-Marchesani Syndrome 1 |
|
Hypoplasia of the maxilla, Broad skull, Brachycephaly, Shallow orbits, Broad ribs, Broad metacarp... |
OMIM:277600 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Depressed nasal bridge, Micromelia, Joint stiffness, Hypop... |
ORPHA:1860 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla... |
ORPHA:2491 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... |
ORPHA:440354 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Micromelia, Osteoarthritis, Abnormal carpal morphology, Short metatarsal, Coxa vara, Pectus carin... |
ORPHA:93351 |
Brachydactyly, Type A4 |
|
Type A brachydactyly, Short middle phalanx of the 2nd finger, Talipes calcaneovalgus, Congenital ... |
OMIM:112800 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s... |
ORPHA:1275 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch... |
ORPHA:231736 |
Maxillonasal Dysplasia, Binder Type |
|
Depressed nasal bridge, Vertebral clefting, Dental malocclusion, Short columella, Patchy distorti... |
OMIM:155050 |
Brachydactyly, Type A1, B |
|
Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of... |
OMIM:607004 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Chorioretinal coloboma |
OMIM:274205 |
Campomelic Dysplasia |
|
Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia,... |
OMIM:114290 |
Ivic Syndrome |
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Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... |
OMIM:147750 |
Acrocephalopolydactyly |
|
Genu recurvatum, Short neck, Depressed nasal ridge, Short long bone, Limb undergrowth, Short nose... |
ORPHA:221054 |
Thoracomelic Dysplasia |
|
Short neck, Elbow dislocation, Hyperlordosis, Abnormal fibula morphology, Genu valgum, Bell-shape... |
ORPHA:1803 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Craniosynostosis, Orofacial cleft, Forearm undergrowth, Lower limb undergrowth, Convex nasal ridge |
OMIM:218650 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Inguinal hernia, Entropion, Hypospadias, Prominent nasal bridge, Trichiasis, Micrognathia, Sparse... |
OMIM:609944 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Epiphyseal dysplasia, Flat distal femoral epiphysis, Irregularity of vertebral bodies, Abnormalit... |
OMIM:609324 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Short neck, Abnormal form of the vertebral bodies, Verte... |
ORPHA:2311 |
Kinsship Syndrome |
|
Osteopenia, Mandibular prognathia, Single transverse palmar crease, Micrognathia, Short neck, Dow... |
OMIM:619297 |
Ruvalcaba Syndrome |
|
Micromelia, Proximal placement of thumb, Pectus carinatum, Narrow chest, Clinodactyly of the 5th ... |
ORPHA:3121 |
Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Type B brachydactyly, Broad thumb, Camptodactyly of finger, Short distal phalanx of finger |
ORPHA:1471 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Accelerated skele... |
ORPHA:439822 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Micrognathia, Short neck, Downturned corners of mouth, High palate, Thoracic kyphosis, Narrow che... |
ORPHA:163649 |
Acromegaloid Facial Appearance Syndrome |
|
Telecanthus, Joint hypermobility, Highly arched eyebrow, Tapered finger, Micrognathia, Large for ... |
OMIM:102150 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Narrow chest, M... |
OMIM:611263 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Prominent nose, Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Narrow ches... |
OMIM:616300 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Micrognathia, Short neck, Lateral clavicle hook, Preaxial polydactyly, Long thorax, Narrow greate... |
OMIM:617925 |
Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Anteverted nares, Short neck, Kyphosis, Cone-shaped epiphyse... |
ORPHA:420794 |
Juberg-Hayward Syndrome |
|
Wide nose, Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abn... |
ORPHA:2319 |
Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Pectus excavatum, Delayed epiphyseal ossification, Clinodactyly, Wide nasal bridge, Genu valgum, ... |
ORPHA:166024 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Pes planus, Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypop... |
OMIM:184250 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Genu recurvatum, Limited hip extension, Short neck, Flexion contracture, Tibial bowing, Knee disl... |
OMIM:143095 |
Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... |
ORPHA:1426 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Single transverse palmar crease, Hemivertebrae, Brachycephaly, Coxa vara, Pectus carinatum, Hypot... |
OMIM:614701 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat... |
OMIM:147891 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Mandibular prognathia, Short metacarpal, Diabetes mellitus, Hypospadias, Anteverted nares, Depres... |
OMIM:614613 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Brachydactyly, Type D |
|
Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly |
OMIM:113200 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1248 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Depresse... |
OMIM:151210 |
Alagille Syndrome |
|
Micrognathia, Long nose, Brachycephaly, Abnormal form of the vertebral bodies, Protruding ear, De... |
ORPHA:52 |
Schneckenbecken Dysplasia |
|
Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Adva... |
OMIM:269250 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Irregular vertebral endplates, High palate, Short phalanx of finger, Bifid uvula, Dis... |
OMIM:612350 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contra... |
OMIM:611717 |
Fibular Aplasia-Ectrodactyly Syndrome |
|
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula |
ORPHA:1118 |
Eng-Strom Syndrome |
|
Camptodactyly of finger, Pectus excavatum, Arthritis, Scoliosis, Brachydactyly |
ORPHA:1937 |
17Q21.31 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Anteverted nares, Abnormality of the dentition, Micrognathia, High pa... |
ORPHA:217340 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Hypoplasia of penis, Small scrotum, Multiple pterygia, Micrognathia, Symphalangism affecting the ... |
ORPHA:2990 |
Atelosteogenesis Type Iii |
|
Short tubular bones of the hand, Micrognathia, Knee dislocation, High palate, Short tibia, Verteb... |
ORPHA:56305 |
Robinow Syndrome |
|
Small scrotum, Dental crowding, External genital hypoplasia, Micrognathia, Pulmonary valve atresi... |
ORPHA:97360 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Sandestig-Stefanova Syndrome |
|
Prominent metopic ridge, Rocker bottom foot, Short neck, Underdeveloped tragus, Primary microceph... |
OMIM:618804 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Osteopenia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Erupt... |
OMIM:166250 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Short palm, Thin upper lip vermilion, Short metacarpal, Osteopenia, Dental crowding, Underdevelop... |
OMIM:190351 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patella morphology, ... |
ORPHA:166002 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Lumbar hyperlordosis, Bowing of the legs, Pectus excavatum, Limb undergrowth, Limited elbow exten... |
ORPHA:156728 |
Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Micrognathia, Hypoplasia of the maxilla, Multiple prenatal fractures, Pa... |
OMIM:215140 |
Retinitis Pigmentosa 40 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo... |
OMIM:613801 |
Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short neck, Hypoplastic ilia, Hume... |
ORPHA:93333 |
Shox-Related Short Stature |
|
Micrognathia, Short neck, Madelung deformity, Tibial bowing, Short foot, Genu valgum, High palate... |
ORPHA:314795 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene... |
OMIM:609441 |
Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Micrognathia, Symphalangis... |
ORPHA:628 |
Stuve-Wiedemann Syndrome 1 |
|
Single transverse palmar crease, Micrognathia, Short neck, Femoral bowing, Tibial bowing, Knee fl... |
OMIM:601559 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Thin upper lip vermilion, Short humerus, Short femur, Sandal gap, Rhizomelia, Wide nose, Hypoplas... |
OMIM:607143 |
Ring Chromosome 4 Syndrome |
|
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... |
ORPHA:1447 |
Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Trochlea Of The Humerus, Aplasia Of |
|
Short humerus, Cleft palate |
OMIM:191000 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Sclerosis of foot bone... |
ORPHA:566943 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Depressed nasal ridge, T... |
OMIM:300863 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate... |
OMIM:249710 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Thin upper lip vermilion, Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of... |
ORPHA:370010 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Kyphosis, Reduced bone mineral density, Pectus carinatum, Delayed ossification of carpal bones, S... |
OMIM:618392 |
Orofaciodigital Syndrome Xviii |
|
Brachydactyly, Sandal gap, Single transverse palmar crease, Accessory oral frenulum, Postaxial po... |
OMIM:617927 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Tibial metaphyseal i... |
ORPHA:457395 |
Mesomelic Dysplasia, Savarirayan Type |
|
Abnormal foot morphology, Talipes equinovalgus, Abnormal thorax morphology, Hip dislocation, Fibu... |
OMIM:605274 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... |
OMIM:617719 |
Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... |
OMIM:222600 |
Coats Disease |
|
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... |
ORPHA:190 |
Tibial Torsion, Bilateral Medial |
|
Bowing of the legs, Scoliosis, Tibial torsion |
OMIM:188800 |
W Syndrome |
|
Hypoplasia of the ulna, Pes planus, Broad uvula, Radial bowing, Depressed nasal bridge, Broad nas... |
ORPHA:2804 |
Hhhh Syndrome |
|
Hemiatrophy |
OMIM:306960 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, O... |
OMIM:608728 |
Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ... |
OMIM:602080 |
8P23.1 Microdeletion Syndrome |
|
Proximal placement of thumb, Micrognathia, Short neck, Enlarged thorax, Deeply set eye, High pala... |
ORPHA:251071 |
Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti... |
ORPHA:2501 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Hypoplasia of the maxilla, Multipl... |
OMIM:156510 |
Acromesomelic Dysplasia 1 |
|
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... |
OMIM:602875 |
Chromosome 9P Deletion Syndrome |
|
Micrognathia, Short neck, High, narrow palate, Deep philtrum, High palate, Atrial septal defect, ... |
OMIM:158170 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Tapered finger, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxate... |
OMIM:311895 |
Aarskog-Scott Syndrome |
|
Genu recurvatum, Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, Orofacia... |
ORPHA:915 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... |
ORPHA:93308 |
Meier-Gorlin Syndrome 6 |
|
Decreased response to growth hormone stimulation test, Depressed nasal ridge, Microretrognathia, ... |
OMIM:616835 |
Acrorenal-Mandibular Syndrome |
|
Micrognathia, Hemivertebrae, High palate, Narrow chest, Hypoplasia of the ulna, Split hand, Split... |
OMIM:200980 |
Fetal Trimethadione Syndrome |
|
Ambiguous genitalia, Depressed nasal bridge, Ventricular septal defect, Hypospadias, Micrognathia... |
ORPHA:1913 |
Heart Defects-Limb Shortening Syndrome |
|
Death in infancy, Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib morphology, Abnorm... |
ORPHA:1354 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Micromelia, Short neck, Deep philtrum, Delayed epiphyseal ossification, Narrow chest, Death in ch... |
OMIM:613320 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Micrognathia, Knee dislocation, Irregular vertebral endplates, High palate... |
OMIM:618363 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Cleft upper lip,... |
OMIM:263750 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... |
ORPHA:93267 |
Coffin-Lowry Syndrome |
|
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Pectus carinatum, Protruding ea... |
ORPHA:192 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Short neck, Abnormal hand... |
OMIM:200600 |
Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal rib mor... |
ORPHA:1836 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
High palate, Abnormal morphology of ulna, Short neck, Abnormal metacarpal morphology |
ORPHA:2233 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Hamartoma of tongue, Accessory oral frenulum, Postaxial polydactyly, Micrognathia... |
OMIM:258860 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High palate, Cli... |
OMIM:300373 |
Paternal Uniparental Disomy Of Chromosome X |
|
Short metacarpal, Short neck, Shield chest, Infertility, Cubitus valgus, Micropenis, Decreased te... |
ORPHA:261524 |
Achondroplasia |
|
Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat... |
ORPHA:15 |
Anauxetic Dysplasia 3 |
|
Beaking of vertebral bodies, Short metacarpal, Depressed nasal bridge, Joint hypermobility, Thora... |
OMIM:618853 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Osteopenia, Hip contracture, Necrotizing enterocolitis, Toe syndactyly, Anteverted nares, Depress... |
OMIM:616809 |
Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal... |
ORPHA:1427 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ... |
OMIM:250460 |
Catel-Manzke Syndrome |
|
Camptodactyly of finger, Metatarsus valgus, Micrognathia, Joint stiffness, Pectus excavatum, Radi... |
ORPHA:1388 |
Omodysplasia 1 |
|
Short humerus, Increased fibular diameter, Rhizomelia, Depressed nasal bridge, Micrognathia, Limi... |
OMIM:258315 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Abnormal metatarsal morphology, Short neck, Rhizo-meso-acromelic limb shortening, Enlarged thorax... |
ORPHA:163654 |
Brachydactyly, Type A2, With Microcephaly |
|
Type A2 brachydactyly, Absent middle phalanx of 2nd finger, Thumbs hypoplastic with bulbous tips,... |
OMIM:211369 |
Catel-Manzke Syndrome |
|
Single transverse palmar crease, Micrognathia, Short neck, Pectus carinatum, Glossoptosis, High p... |
OMIM:616145 |
Cousin Syndrome |
|
Micrognathia, Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th... |
OMIM:260660 |
Osseous Heteroplasia, Progressive |
|
Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue |
OMIM:166350 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Rod-cone dystrophy, Cataract |
OMIM:300719 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Short femur, Bilateral cleft lip, Cleft upper lip, Foot oligodactyly, Sco... |
OMIM:601357 |
Melnick-Needles Syndrome |
|
Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ... |
OMIM:309350 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Death in infancy, Lateral clavicle hook, Horizontal ribs, Early ossificat... |
OMIM:208500 |
Aase-Smith Syndrome |
|
Multiple joint contractures, Camptodactyly of finger, Joint stiffness, Trismus, Cleft palate, Apl... |
ORPHA:916 |
Orofaciodigital Syndrome Ix |
|
Median cleft lip, Toe syndactyly, Accessory oral frenulum, Abnormality of the dentition, Broad na... |
OMIM:258865 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Short humerus, Bowing of the long bones, Increased bone mineral density, Barrel-shape... |
OMIM:239000 |
Acrocraniofacial Dysostosis |
|
Micrognathia, Abnormal form of the vertebral bodies, Triphalangeal thumb, Advanced eruption of te... |
ORPHA:949 |
Fibrochondrogenesis 2 |
|
Anteverted nares, Thoracic hypoplasia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal w... |
OMIM:614524 |
Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... |
ORPHA:93406 |
Atelosteogenesis, Type Iii |
|
Cervical segmentation defect, Radial bowing, Sandal gap, Rhizomelia, Cervical kyphosis, Micrognat... |
OMIM:108721 |
Dyggve-Melchior-Clausen Disease |
|
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Ti... |
OMIM:223800 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Micrognathia, Flexion c... |
OMIM:265000 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp... |
OMIM:300232 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Hypoplasia of the ulna, Anteverted nares, Depressed nasal bridge, Abnormality of the ... |
OMIM:615398 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Flared, irregular rib ends, S... |
ORPHA:168555 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Micrognathia, Short neck, Depressed nasal ridge, Triangular shape... |
OMIM:271665 |
Leri Pleonosteosis |
|
Genu recurvatum, Camptodactyly of finger, Joint stiffness, Elbow dislocation, Abnormal finger mor... |
ORPHA:2900 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Abnormal... |
ORPHA:90652 |
Chst3-Related Skeletal Dysplasia |
|
Delayed eruption of teeth, Barrel-shaped chest, Short metacarpal, Rhizomelia, Kyphoscoliosis, Fle... |
ORPHA:263463 |
Hypertension And Brachydactyly Syndrome |
|
Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly |
OMIM:112410 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Gombo Syndrome |
|
Clinodactyly, Radial deviation of finger, Brachydactyly |
OMIM:233270 |
Kniest Dysplasia |
|
Respiratory distress, Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Ti... |
OMIM:156550 |
Arthrogryposis, Distal, Type 1C |
|
Short neck, Knee flexion contracture, High palate, Clinodactyly of the 5th finger, Camptodactyly ... |
OMIM:619110 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Abnormal thumb morphology, Joint stiffness, Type A brachydactyly, Abnormal metacarpal morphology |
ORPHA:1078 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosi... |
OMIM:612847 |
Duane-Radial Ray Syndrome |
|
Abnormal nasopharynx morphology, Preaxial polydactyly, Shoulder dislocation, Choanal stenosis, Tr... |
OMIM:607323 |
Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
Gordon Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Talipes, Pectus excavatum, Limitation of joint mobili... |
ORPHA:376 |
Liebenberg Syndrome |
|
Metaphyseal widening, Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contractur... |
OMIM:186550 |
Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Increased bone mineral density, Sandal gap, Depressed nasal bridge, Pro... |
ORPHA:90650 |
Brachydactylous Dwarfism, Mseleni Type |
|
Osteopenia, Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Knee osteoarthritis... |
ORPHA:2619 |
Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal should... |
OMIM:274000 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Sprengel anomaly, D... |
OMIM:134780 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Bilateral single transverse palmar creases, Tarsal synostosis, C... |
ORPHA:968 |
Ulnar Hypoplasia-Split Foot Syndrome |
|
Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna |
ORPHA:1122 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Esophageal atresia, Tra... |
OMIM:314390 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... |
OMIM:193230 |
Otoonychoperoneal Syndrome |
|
Hip contracture, Ankle flexion contracture, Aplasia/Hypoplasia of the fibula, Knee flexion contra... |
OMIM:259780 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... |
OMIM:618220 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... |
ORPHA:1802 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... |
OMIM:156500 |
Wagner Vitreoretinopathy |
|
Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti... |
OMIM:143200 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,... |
OMIM:602557 |
Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Craniosynostosis... |
ORPHA:1515 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Death in infancy, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia,... |
ORPHA:163966 |
Cranioectodermal Dysplasia 1 |
|
Single transverse palmar crease, High, narrow palate, High palate, Widely spaced teeth, Narrow ch... |
OMIM:218330 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Narrow nasal bridge, Mandibular prognathia, Brachydactyly, Bilateral single transverse palmar cre... |
ORPHA:2511 |
Codas Syndrome |
|
Congenital hip dislocation, Abnormal form of the vertebral bodies, Short metacarpal, Anteverted n... |
ORPHA:1458 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Femora... |
OMIM:304120 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Cleft upper lip, Absent thumb, Micrognathia, Hypoplasia of the radiu... |
OMIM:602418 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Lumbar hyperlordosis, Capitate-hamat... |
OMIM:271650 |
Martsolf Syndrome 1 |
|
Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Brachycephaly, ... |
OMIM:212720 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly, Inguinal hernia, Epicanthus, Telecanthus, Wide nose, Lacrimation abnormality, ... |
ORPHA:1252 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Anteverted nares, Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thor... |
ORPHA:1797 |
Wiedemann-Steiner Syndrome |
|
Micrognathia, Accelerated skeletal maturation, Synophrys, Clinodactyly of the 5th finger, Short p... |
OMIM:605130 |
Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Single transverse palmar crease, Short neck, Micrognathia, Knee flexi... |
OMIM:114300 |
C Syndrome |
|
Micromelia, Micrognathia, Clinodactyly, Dislocated radial head, Short metacarpal, Anteverted nare... |
OMIM:211750 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Lumbar hyperlordosis, ... |
ORPHA:99642 |
Boomerang Dysplasia |
|
Underdeveloped nasal alae, Absent radius, Wide nasal bridge, Hypoplastic nasal septum, Hypoplasti... |
OMIM:112310 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Anteverted nares, Micrognathia, Metaphyseal widening, Abnormal thorax morphology, Abnormal form o... |
ORPHA:73230 |
Anauxetic Dysplasia 1 |
|
Mandibular prognathia, Short neck, Thoracic kyphosis, Short palm, Microdontia, Joint laxity, Barr... |
OMIM:607095 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Accelerated skeletal maturation, Hypoplasia of the maxilla, Neonatal epiph... |
OMIM:101800 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Wi... |
ORPHA:1278 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os... |
ORPHA:93357 |
Humero-Radio-Ulnar Synostosis |
|
Aplasia/Hypoplasia of the thumb, Abnormal thumb morphology, Upper limb asymmetry, Radioulnar syno... |
ORPHA:3266 |
Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Rhizomelia, Anteverted nares, Micromelia, Micrognathia, Cranio... |
ORPHA:93329 |
Craniofrontonasal Dysplasia |
|
Abnormal clavicle morphology, Depressed nasal ridge, Orofacial cleft, High palate, Clinodactyly o... |
ORPHA:1520 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc... |
OMIM:301040 |
Epiphyseal Dysplasia, Multiple, 6 |
|
Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth... |
OMIM:614135 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Rhiz... |
OMIM:618019 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Short metatarsal, Widely spaced teeth, Narrow chest, Short phalanx of finge... |
OMIM:617102 |
Terminal Osseous Dysplasia |
|
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Abnorm... |
OMIM:300244 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Joint laxity, Barrel-shaped chest, Mandibular prognathia, Lumbar hyperlordosis, Rhizomelia, Short... |
OMIM:612813 |
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Mandibular prognathia, Lumbar hyperlordosis, Broad hallux, Depressed nasal bridge, Short thumb, P... |
OMIM:165800 |
Phocomelia, Schinzel Type |
|
Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormal tibia morphology, Foot oligod... |
ORPHA:2879 |
Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
Brachydactyly Type C |
|
Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af... |
ORPHA:93384 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu... |
OMIM:166210 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... |
OMIM:187601 |
Kbg Syndrome |
|
Single transverse palmar crease, Short neck, Epispadias, Synophrys, Thoracic kyphosis, Short palm... |
OMIM:148050 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Dental crowding, Single transverse palmar crease, Premature thelarche, Micr... |
OMIM:180849 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect... |
OMIM:113000 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... |
OMIM:311300 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, Short neck, Hem... |
OMIM:213980 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Cataract, Optic atrophy |
OMIM:165300 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Joi... |
ORPHA:2167 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia |
ORPHA:71289 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... |
OMIM:614292 |
Arms, Malformation Of |
|
Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius |
OMIM:107900 |
Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Joint stiffness, ... |
ORPHA:2107 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle... |
ORPHA:163665 |
Pallister-Hall Syndrome |
|
Hemivertebrae, Abnormal lung lobation, Anteriorly placed anus, Neonatal death, Micropenis, Distal... |
OMIM:146510 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Brachycephaly, Patellar hypoplasia, Anteriorly placed anus,... |
OMIM:218600 |
Acromesomelic Dysplasia 4 |
|
Mandibular prognathia, Thoracic scoliosis, Accelerated skeletal maturation, Synophrys, Short meta... |
OMIM:619636 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Attached earlobe, Brachycephaly, Abnormal form of the vertebral bodies, Pe... |
ORPHA:1327 |
Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... |
OMIM:184705 |
Ververi-Brady Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Wide nose, Broad nasal tip, Prominent nose, Microcepha... |
OMIM:617982 |
Roifman Syndrome |
|
Hip contracture, Biconvex vertebral bodies, Short metacarpal, Anteverted nares, Single transverse... |
OMIM:616651 |
Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... |
ORPHA:93322 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Mandibular prognathia, Brachydactyly, Abnormality of the dentition, Kyphosis, Dental malocclusion... |
ORPHA:1858 |
Emery-Nelson Syndrome |
|
Depressed nasal bridge, Camptodactyly of finger, Abnormal thumb morphology, Interphalangeal thumb... |
ORPHA:1927 |
Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Depressed nasal bridge, Abnormal rib morphology, Wide nasal bridge, Di... |
ORPHA:1513 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Reduced subcutaneous adipose tissue, Inguinal hernia, Entropion, Failure to thrive, Kyphoscoliosi... |
OMIM:617403 |
Verheij Syndrome |
|
Branchial cyst, Short neck, Hemivertebrae, Joint laxity, Vertebral fusion, Anteverted nares, Wide... |
OMIM:615583 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Toe syndactyly, Epicanthus, Camptodactyly of finger, Prominent nasal bridge,... |
ORPHA:3409 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Aminopterin Syndrome Sine Aminopterin |
|
Thoracic scoliosis, Micrognathia, Brachycephaly, Oligodontia, High palate, Syndactyly, Rudimentar... |
OMIM:600325 |
Nicolaides-Baraitser Syndrome |
|
Joint dislocation, Accelerated skeletal maturation, Abnormal finger morphology, Hernia, Short pal... |
ORPHA:3051 |
Wiedemann-Rautenstrauch Syndrome |
|
Short neck, Micrognathia, Flexion contracture, Hypoplasia of the thymus, Narrow chest, Genu varum... |
OMIM:264090 |
Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo... |
ORPHA:2496 |
Restrictive Dermopathy 1 |
|
Adrenal hypoplasia, Micrognathia, Flexion contracture, Overtubulated long bones, Hypospadias, Dep... |
OMIM:275210 |
Orofaciodigital Syndrome X |
|
Coalescence of tarsal bones, Depressed nasal bridge, Preaxial hand polydactyly, Hand oligodactyly... |
OMIM:165590 |
Moebius Syndrome |
|
Abnormal nasopharynx morphology, Short neck, Micrognathia, Congenital fibrosis of extraocular mus... |
OMIM:157900 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Anteverted nares, Recurrent fractures, Micromelia, Micrognathia, Abnormal... |
ORPHA:93299 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Short metacarpal, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Frontal bossing, Depressed nasal bridge, Short neck, Hypertelorism, Cryptorchidism, Bulbous nose,... |
OMIM:616789 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Sh... |
OMIM:300106 |
Kbg Syndrome |
|
Persistent open anterior fontanelle, Single transverse palmar crease, Short neck, Congenital malf... |
ORPHA:2332 |
Desbuquois Syndrome |
|
Genu recurvatum, Camptodactyly of finger, Anteverted nares, Coxa valga, Elbow dislocation, Short ... |
ORPHA:1425 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Downturned corners ... |
ORPHA:280 |
Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Non-midline cle... |
ORPHA:246 |
Rhizomelic Chondrodysplasia Punctata |
|
Rhizomelia, Abnormality of the dentition, Limitation of joint mobility, Epiphyseal stippling, Abn... |
ORPHA:177 |
Arthrogryposis, Distal, Type 2B2 |
|
Broad hallux, Sandal gap, Ulnar deviation of the wrist, Tapered finger, Metatarsus adductus, Tali... |
OMIM:618435 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Micropenis, Calvarial ... |
OMIM:616331 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Micromelia, Osteoarthritis, Short thorax, Platyspondyly, Abnormal epiphysis morphology |
ORPHA:93283 |
Upper Limb Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger |
ORPHA:2497 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Single transverse palmar crease, Micromelia, Finger joint hypermobility, Microretrognathia, Joint... |
OMIM:618870 |
Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Generalized osteosclerosis, Macroglossia, Short long bone, Narrow chest... |
ORPHA:1423 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Brachycephaly, Coxa vara, Gl... |
ORPHA:1452 |
Frank-Ter Haar Syndrome |
|
Delayed eruption of teeth, Beaking of vertebral bodies, Mandibular prognathia, Genu recurvatum, C... |
ORPHA:137834 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Enlarged joints, Micrognathia, Flexion contracture, Prominent interphalangeal joints, Aplasia/Hyp... |
OMIM:215150 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... |
ORPHA:2839 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Meta... |
OMIM:182212 |
Metaphyseal Anadysplasia 2 |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... |
OMIM:613073 |
X-Linked Retinoschisis |
|
Retinoschisis, Cataract |
ORPHA:792 |
Achondrogenesis Type 1B |
|
Anteverted nares, Micromelia, Micrognathia, Abnormal enchondral ossification, Short neck, Short t... |
ORPHA:93298 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora... |
ORPHA:474 |
Diabetic Embryopathy |
|
Low-set, posteriorly rotated ears, Frontal bossing, Ventricular septal defect, Micrognathia, Micr... |
ORPHA:1926 |
Dysostosis, Stanescu Type |
|
Micromelia, Short neck, Hypoplasia of the maxilla, Increased bone mineral density, Abnormal denta... |
ORPHA:1798 |
Acrootoocular Syndrome |
|
Abnormal finger flexion crease, Decreased palmar creases, Micrognathia, High, narrow palate, Hypo... |
ORPHA:2980 |
Smith-Mccort Dysplasia 2 |
|
Mandibular prognathia, Short neck, Short metatarsal, Pectus carinatum, Short phalanx of finger, B... |
OMIM:615222 |
Desbuquois Dysplasia 2 |
|
Single transverse palmar crease, Short neck, Metaphyseal widening, Synophrys, Pectus carinatum, K... |
OMIM:615777 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... |
ORPHA:93352 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... |
OMIM:180104 |
Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Glossoptosis, High palate, Clin... |
OMIM:117650 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... |
OMIM:151200 |
Opsismodysplasia |
|
Abnormally ossified vertebrae, Depressed nasal bridge, Tapered finger, Joint stiffness, Pectus ex... |
ORPHA:2746 |
Sillence Syndrome |
|
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... |
ORPHA:3168 |
Pierpont Syndrome |
|
Short neck, Widely spaced teeth, Short palm, Prominent fingertip pads, Prominent subcalcaneal fat... |
OMIM:602342 |
Chondroectodermal Dysplasia With Night Blindness |
|
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormality of the knee, Micrognathia, F... |
ORPHA:319195 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... |
ORPHA:411527 |
Disorganization, Mouse, Homolog Of |
|
Cleft upper lip, Hip dislocation, Cleft palate, Hand polydactyly, Limb duplication, Sacral mening... |
OMIM:223200 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic ossification ... |
ORPHA:337 |
Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Depressed nasal bridge, Micromelia, Short thorax,... |
ORPHA:85166 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vertebral fusion, Epicanthus, Vaginal hernia, Lacrimation abnormality, Abn... |
ORPHA:2916 |
Keipert Syndrome |
|
Joint laxity, Wide nose, Broad hallux, Exaggerated cupid's bow, Prominent nose, Downturned corner... |
OMIM:301026 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Pectus carinatu... |
OMIM:276820 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... |
ORPHA:168549 |
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
Occipital Horn Syndrome |
|
Pectus carinatum, High palate, Narrow chest, Broad ribs, Joint laxity, Pelvic bone exostoses, Hia... |
OMIM:304150 |
Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Shallow orbits, Atrial s... |
OMIM:150250 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Long nose, Mild microcephaly, Deeply set eye, Atrial septal defect, Micropenis, Thick upper lip v... |
ORPHA:363444 |
Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili... |
ORPHA:93296 |
Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short neck, Short metatarsal... |
OMIM:612463 |
Peripheral Dysostosis |
|
Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Prominent nose, Depressed nasal ridge, Downturned corners of mou... |
ORPHA:2378 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Anteverted nares, Prominent... |
ORPHA:2180 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type |
|
Long toe, Pes planus, Arachnodactyly, Broad nasal tip, Cleft lip, Cleft palate, Large hands, Thor... |
OMIM:300263 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f... |
OMIM:272460 |
Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Micrognathia, Short neck, Vertebral segmentation de... |
ORPHA:263508 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy |
ORPHA:90654 |
Non-Distal Duplication 10Q |
|
Depressed nasal bridge, Micrognathia, Pectus excavatum, Cryptorchidism, Joint hyperflexibility, S... |
ORPHA:1695 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pectus excavatum, Cryptorchidism, Clinodactyly, Small hand, Wide nasal bridge, Pectus carinatum, ... |
OMIM:614684 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Accessory oral frenulum, Osteolysis involving bones of the upper limbs, Flexion contr... |
ORPHA:88630 |
Osteoglosphonic Dysplasia |
|
Abnormal clavicle morphology, Inguinal hernia, Rhizomelia, Anteverted nares, Choanal atresia, Mic... |
ORPHA:2645 |
Ulbright-Hodes Syndrome |
|
Micrognathia, Short neck, Ovoid thoracolumbar vertebrae, High palate, Phocomelia, Short metacarpa... |
ORPHA:3404 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Short fourth metatarsal, Short neck, Femoral bowing, Short metacarpal, Depressed nasa... |
OMIM:616723 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Prominent nasal bridge, Craniosynostosis, Absent thumb, Carious teeth, Na... |
ORPHA:96097 |
Foveal Hypoplasia 1 |
|
Hypoplasia of the fovea, Presenile cataracts |
OMIM:136520 |
Summitt Syndrome |
|
Finger syndactyly, Epicanthus, Wide nose, Prominent metopic ridge, Camptodactyly of finger, Crani... |
ORPHA:3210 |
Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... |
ORPHA:1826 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi... |
ORPHA:1307 |
Intellectual Disability, Wolff Type |
|
Microretrognathia, Inguinal hernia, Hypospadias, Camptodactyly of finger, Cryptorchidism, Bulbous... |
ORPHA:3080 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Dextrocardia, Craniosynostosis, Micrognathia, Hypertelorism, Pyloric stenosis, Conductive hearing... |
ORPHA:261197 |
Arthrogryposis And Ectodermal Dysplasia |
|
Absent eyebrow, Entropion, Diabetes mellitus, Abnormal dental enamel morphology, Kyphoscoliosis, ... |
OMIM:601701 |
Cornelia De Lange Syndrome 2 |
|
Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Proximal placement of thumb, ... |
OMIM:300590 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Knee flexion contract... |
OMIM:617402 |
Feingold Syndrome Type 2 |
|
Toe syndactyly, Jejunal atresia, Short thumb, Short middle phalanx of finger, Brachydactyly |
ORPHA:391646 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Anteverted nares, Camptodactyly of finger, Micromelia, Short neck, Depresse... |
ORPHA:2021 |
Craniosynostosis, Adelaide Type |
|
Hallux valgus, Shortening of all middle phalanges of the fingers, Carpal bone malsegmentation, Co... |
OMIM:600593 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Joint dislocation, Respiratory distress, Hypospadias, Microcephaly, Micrognathia, Wide mouth, Dee... |
OMIM:300934 |
Chromosome 15Q13.3 Deletion Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly |
OMIM:612001 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Down-sloping shoulders, Abnormality of the nose, Carious teeth, Joint hyperflexibility, Scoliosis... |
ORPHA:1390 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperextensibility of the finger joints, Broad skull, Intracranial hemorrhage, Short philtrum, At... |
ORPHA:163979 |
Vitamin K Antagonist Embryofetopathy |
|
Anteverted nares, Depressed nasal bridge, Choanal atresia, Short neck, Punctate vertebral calcifi... |
ORPHA:1914 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... |
OMIM:170390 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Micrognathia, Dyspnea, Temporomandibular joint ankylosis, Aplasia/Hypoplasi... |
ORPHA:141152 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Thoracic scoliosis, Bicuspid aortic valve, Micrognathia, Short neck, Gener... |
ORPHA:508498 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Thin upper lip vermilion, Radial bowing, Intestinal malrotation, Postaxial polydactyly, Micromeli... |
OMIM:617866 |
Snijders Blok-Campeau Syndrome |
|
Joint laxity, Frontal bossing, Prominent nose, Hypertelorism, Wide nasal bridge, Macrocephaly, Ta... |
OMIM:618205 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Anteverted nares, Posteriorly rotated ears, Micrognathia, Microcephaly, Sho... |
ORPHA:1832 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow ch... |
OMIM:250220 |
Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Micrognathia, Osteoarthritis, Deep philtrum, Short metatarsal, Pectus carinatum, Prot... |
OMIM:190350 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Death in infancy, Depressed nasal bridge, Single tra... |
OMIM:617425 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Mandibular prognathia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thorac... |
OMIM:271510 |
Mosaic Trisomy 14 |
|
Low-set, posteriorly rotated ears, Frontal bossing, Hypoplasia of penis, Anteverted nares, Campto... |
ORPHA:1703 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Abnormal clavicle morphology, Micrognathia, Short neck, Abnormality of the ... |
ORPHA:798 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar... |
OMIM:250420 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Joint hyperflexibility, Brachydactyly, Osteoporosis, Short distal phalanx of finger |
ORPHA:2787 |
Cri-Du-Chat Syndrome |
|
Single transverse palmar crease, Short neck, Short metatarsal, Orofacial cleft, Downturned corner... |
OMIM:123450 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Decreased hip abduction, Lumbar hyperlordosis, Flat capital femoral epiphysis, Genu valgum, Pectu... |
OMIM:609223 |
Diamond-Blackfan Anemia 11 |
|
Bilateral cleft palate, Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplas... |
OMIM:614900 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Short lingual frenulum, Bowed humerus, Depressed nasal bridge, Fle... |
OMIM:619479 |
Ophthalmomandibulomelic Dysplasia |
|
Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of j... |
ORPHA:2741 |
Exostoses With Anetodermia And Brachydactyly, Type E |
|
Type E brachydactyly |
OMIM:133690 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... |
ORPHA:2347 |
Gorlin Syndrome |
|
Mandibular prognathia, Vertebral fusion, Epicanthus, Telecanthus, Hypogonadotropic hypogonadism, ... |
ORPHA:377 |
Slc35A2-Cdg |
|
Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Coxa valga, Metata... |
ORPHA:356961 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Epiphyseal dysplasia, Enlarged epiphyses, Anteverted nares, Depressed nasal bridge, Pierre-Robin ... |
OMIM:184840 |
Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Microretrognathia, Bowing of the long bones, Osteopenia, Rhizomelia, Recurrent... |
OMIM:616229 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Cataract, Choroidal neovascularization, Abnormal chorioret... |
ORPHA:179 |
Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Aganglionic megacolon, Toe synda... |
ORPHA:959 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... |
OMIM:607078 |
Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... |
ORPHA:1436 |
Ring Chromosome 8 Syndrome |
|
Deviation of finger, Short nose, Anteverted nares, Abnormal palate morphology |
ORPHA:1450 |
Premature Aging Syndrome, Penttinen Type |
|
Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the kne... |
OMIM:601812 |
Smith-Mccort Dysplasia 1 |
|
Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Iliac cre... |
OMIM:607326 |
Multiple Synostoses Syndrome 3 |
|
Broad hallux, Limited interphalangeal movement, Hallux varus, Cubitus valgus, Humeroradial synost... |
OMIM:612961 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Orofaciodigital Syndrome Vi |
|
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Hamartoma of tongue, Accessory oral f... |
OMIM:277170 |
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay |
|
Type A1 brachydactyly |
OMIM:188201 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Epicanthus, Short metacarpal, Cryptorchidism, Short thumb, Delayed skeletal maturation |
ORPHA:2489 |
Primary Ciliary Dyskinesia |
|
Atrial situs ambiguous, Conductive hearing impairment, Chronic otitis media, Abnormal sperm motil... |
ORPHA:244 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Metaphyseal widening, Abnormal tibia morphology, Abnor... |
ORPHA:321 |
Wt Limb-Blood Syndrome |
|
Ulnar deviation of the 3rd finger, Absent thumb, Short thumb, Sensorineural hearing impairment, R... |
OMIM:194350 |
Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Generalized joint laxity, Patellar hypoplasia, Short ... |
OMIM:609325 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... |
ORPHA:93284 |
Chromosome 20Q11-Q12 Deletion Syndrome |
|
Brachydactyly, Tarsal osteovalgus, Finger clinodactyly, Short philtrum, Camptodactyly, Adducted t... |
OMIM:614257 |
Brachyolmia Type 1, Toledo Type |
|
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica... |
OMIM:271630 |
Split-Hand/Foot Malformation 4 |
|
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
2Q31.1 Microdeletion Syndrome |
|
Micrognathia, Short neck, Deep philtrum, Abnormal tibia morphology, Downturned corners of mouth, ... |
ORPHA:251014 |
Pyle Disease |
|
Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t... |
OMIM:265900 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
Phenobarbital Embryopathy |
|
Mandibular prognathia, Hypospadias, Microcephaly, Hypertelorism, Aplasia/Hypoplasia of fingers, A... |
ORPHA:1919 |
Familial Anetoderma |
|
Irregular dentition, Lumbar hyperlordosis, High, narrow palate, Abnormal tibia morphology, Genera... |
ORPHA:228277 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... |
OMIM:184253 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, De... |
OMIM:112350 |
Van Maldergem Syndrome 1 |
|
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... |
OMIM:601390 |
Bone Dysplasia, Lethal Holmgren Type |
|
Metaphyseal dysplasia, Rhizomelia, Talipes, Micromelia, Abnormality of the hand, Abnormal thumb m... |
ORPHA:1842 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... |
OMIM:309300 |
Distal Deletion 17Q |
|
Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Micromelia, Aplasia/Hypoplasia of t... |
ORPHA:1597 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... |
ORPHA:363417 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Micromelia, Bowing of the legs, Micrognathia, Short neck, Flexion contracture, Narrow chest, Anis... |
ORPHA:1865 |
Mucopolysaccharidosis Type 4 |
|
Short neck, Reduced bone mineral density, Pectus carinatum, Anteverted nares, Abnormal dental ena... |
ORPHA:582 |
Roifman Syndrome |
|
Narrow nasal bridge, Thin upper lip vermilion, Hip contracture, Epiphyseal dysplasia, Bilateral s... |
ORPHA:353298 |
Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Type E brachydactyly |
ORPHA:1962 |
Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Death in infancy, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, ... |
OMIM:617405 |
22Q11.2 Duplication Syndrome |
|
Wide nose, Ventricular septal defect, Micrognathia, Microcephaly, Hypertelorism, Depressed nasal ... |
ORPHA:1727 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Joint laxity, Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carp... |
OMIM:620269 |
Heyn-Sproul-Jackson Syndrome |
|
11 pairs of ribs, Short metacarpal, Epicanthus, Decreased body weight, Broad phalanx, Short phala... |
OMIM:618724 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... |
OMIM:614500 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Anosmia, Epiphyseal stippling, Abnormality of the vertebral column, Short... |
OMIM:302950 |
Santos Syndrome |
|
Syndactyly, Short stature, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu... |
OMIM:613005 |
Charlie M Syndrome |
|
Finger syndactyly, Micrognathia, Non-midline cleft lip, Split hand, Wide nasal bridge, Tooth agen... |
ORPHA:1406 |
Van Maldergem Syndrome 2 |
|
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Bifid scrot... |
OMIM:615546 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Short neck, Micrognathia, Short palm, Clinodactyly of the 5th finger, Micropenis, Broad hallux, D... |
OMIM:620073 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
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Inguinal hernia, Epicanthus, Coxa valga, Prominent nose, Cryptorchidism, Osteoporosis, Finger cli... |
ORPHA:2958 |
Schwartz-Jampel Syndrome, Type 1 |
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Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Micrognathia, Shor... |
OMIM:255800 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
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Bicuspid aortic valve, Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral e... |
OMIM:271640 |
Cohen Syndrome |
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Thoracic scoliosis, Decreased response to growth hormone stimulation test, Single transverse palm... |
OMIM:216550 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
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Stiff neck, Kyphoscoliosis, Joint stiffness, Hypoplastic ilia, Coxa valga, Trismus, Vertebral wed... |
OMIM:616583 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Lateral clavicle hook, Preaxial ha... |
OMIM:263520 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
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Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Halberd-shaped pelv... |
OMIM:184252 |
Pierre Robin Syndrome And Oligodactyly |
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Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia |
OMIM:172880 |
Carpenter Syndrome 2 |
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Single transverse palmar crease, Short neck, Bilateral cryptorchidism, High, narrow palate, Preax... |
OMIM:614976 |
Wolf-Hirschhorn Syndrome |
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Single transverse palmar crease, Micrognathia, Orofacial cleft, Abnormal form of the vertebral bo... |
OMIM:194190 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
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Thin upper lip vermilion, Anteverted nares, Short neck, Micrognathia, Cleft palate, Short nose, A... |
ORPHA:2015 |
Kniest Dysplasia |
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Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... |
ORPHA:485 |
Wahab Syndrome |
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Syndactyly, Short metacarpal, Short thumb, Ankylosis, Short foot, Short palm, Clinodactyly, Campt... |
OMIM:615170 |
Tetralogy Of Fallot |
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Clinodactyly of the 5th finger, Thin vermilion border, Abnormal nasal morphology, Brachydactyly |
ORPHA:3303 |
Stickler Syndrome Type 1 |
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Hypoplasia of the maxilla, Osteoarthritis, Cleft palate, Joint hyperflexibility, Platyspondyly, A... |
ORPHA:90653 |
Distal Duplication 18Q |
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Arachnodactyly, Abnormal dental morphology, Camptodactyly of finger, Micrognathia, Carious teeth,... |
ORPHA:1716 |
Exudative Vitreoretinopathy 1 |
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Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ... |
OMIM:133780 |
Exudative Vitreoretinopathy 2, X-Linked |
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Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... |
OMIM:305390 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Mandibular prognathia, Bicuspid aortic valve, Single transverse palmar crease, Micrognathia, Prom... |
OMIM:612474 |
Chondrodysplasia, Blomstrand Type |
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Depressed nasal bridge, Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones... |
OMIM:215045 |
Brachydactyly, Type B2 |
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Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:611377 |
Mohr Syndrome |
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Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... |
OMIM:252100 |
Grant Syndrome |
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Bowing of the long bones, Depressed nasal bridge, Micrognathia, Open bite, Abnormal rib morpholog... |
ORPHA:2097 |
Developmental And Epileptic Encephalopathy 73 |
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Narrow nasal bridge, Flexion contracture, Hip dysplasia, Scoliosis, Short nose |
OMIM:618379 |
Multiple Pterygium Syndrome, X-Linked |
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Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:312150 |
Sprengel Deformity |
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Shoulder muscle hypoplasia, Short neck, Cleft palate, Abnormal shoulder morphology, Abnormality o... |
ORPHA:3181 |
Difference Of Sex Development-Intellectual Disability Syndrome |
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Short neck, Kyphosis, Short thorax, Reduced bone mineral density, Downturned corners of mouth, Ge... |
ORPHA:2983 |
Microcephaly, Short Stature, And Limb Abnormalities |
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11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa... |
OMIM:617604 |
Temtamy Syndrome |
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Pes planus, Brachydactyly, Micrognathia, Short toe, Thick lower lip vermilion, Joint hyperflexibi... |
ORPHA:1777 |
Perching Syndrome |
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Respiratory distress, Cyanosis, Depressed nasal bridge, High palate, Scoliosis, Camptodactyly, Jo... |
OMIM:617055 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
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Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Short nose, B... |
OMIM:618618 |
Ollier Disease |
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Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis... |
ORPHA:296 |
20Q11.2 Microdeletion Syndrome |
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Brachydactyly, Talipes calcaneovalgus, Finger clinodactyly, Short philtrum, Camptodactyly, Adduct... |
ORPHA:444051 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia,... |
ORPHA:96334 |
14Q11.2 Microdeletion Syndrome |
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Toe clinodactyly, Toe syndactyly, Exaggerated cupid's bow, Depressed nasal bridge, Micrognathia, ... |
ORPHA:261120 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
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Flat occiput, Micrognathia, High, narrow palate, Brachycephaly, Large iliac wing, Conductive hear... |
ORPHA:2780 |
Verloove Vanhorick-Brubakk Syndrome |
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Finger syndactyly, Tarsal synostosis, Micrognathia, Non-midline cleft lip, Abnormal femur morphol... |
ORPHA:3429 |
Spondylometaphyseal Dysplasia, X-Linked |
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Hyperextensibility of the finger joints, Hip contracture, Enlarged joints, Anteverted nares, Thor... |
OMIM:313420 |
Aarskog-Scott Syndrome |
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Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, Bilateral c... |
OMIM:305400 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
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Mandibular prognathia, Prominent nose, Wide nasal bridge, Narrow palate, Brachydactyly |
OMIM:617169 |
Fanconi Anemia |
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Micrognathia, Abnormal femur morphology, Reduced bone mineral density, High palate, Abnormality o... |
ORPHA:84 |
Isolated Osteopoikilosis |
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Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ... |
ORPHA:166119 |
Cataract-Microcornea Syndrome |
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Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
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Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Intestinal malrotation, M... |
ORPHA:3035 |
Pseudohypoparathyroidism, Type Ia |
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Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short neck, Short toe, Short... |
OMIM:103580 |
Camptosynpolydactyly, Complex |
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Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Aniridia-Intellectual Disability Syndrome |
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Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
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Mandibular prognathia, Craniofacial hyperostosis, Thickened ribs, Depressed nasal bridge, Cortica... |
OMIM:122860 |
Opsismodysplasia |
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Short neck, Hypoplastic vertebral bodies, Narrow chest, Shallow orbits, Short palm, Short phalanx... |
OMIM:258480 |
Cataract 42 |
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Cataract, Developmental cataract |
OMIM:115900 |
Hyperparathyroidism, Transient Neonatal |
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Osteopenia, Short femur, Anteverted nares, Metaphyseal spurs, Recurrent fractures, Depressed nasa... |
OMIM:618188 |
3C Syndrome |
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Hypoplasia of penis, Micrognathia, Short neck, High, narrow palate, Hemivertebrae, Orofacial clef... |
ORPHA:7 |
Thanatophoric Dysplasia |
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Depressed nasal bridge, Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphos... |
ORPHA:2655 |
Pallister-Hall Syndrome |
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Small scrotum, Depressed nasal ridge, Hemivertebrae, Abnormal lung lobation, Atrial septal defect... |
ORPHA:672 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Inguinal hernia, Prominent metopic ridge, Broad hallux, Anteverted nares, Postaxial polydactyly, ... |
ORPHA:457284 |
Blomstrand Lethal Chondrodysplasia |
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Micrognathia, Accelerated skeletal maturation, Narrow chest, Distal shortening of limbs, Short me... |
ORPHA:50945 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
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Micrognathia, Broad hallux, Exaggerated cupid's bow, Hypospadias, Tapered finger, Hypertelorism, ... |
OMIM:618659 |
Retinitis Pigmentosa 4 |
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Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c... |
OMIM:613731 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
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Calcific stippling of infantile cartilaginous skeleton, Rhizomelia, Depressed nasal bridge, Kypho... |
OMIM:215100 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
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Uplifted earlobe, Brachycephaly, Palmoplantar hyperkeratosis, Short philtrum, Widely spaced teeth... |
OMIM:280000 |
Lujan-Fryns Syndrome |
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Arachnodactyly, Dental crowding, Camptodactyly of finger, Abnormality of the dentition, Micrognat... |
ORPHA:776 |
Frontonasal Dysplasia 1 |
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Hypoplasia of the maxilla, Pectoral muscle hypoplasia/aplasia, Widely-spaced maxillary central in... |
OMIM:136760 |
16P13.11 Microduplication Syndrome |
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Arachnodactyly, Ventricular septal defect, Craniosynostosis, Pectus excavatum, Coarctation of aor... |
ORPHA:261243 |
Autosomal Dominant Brachyolmia |
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Kyphoscoliosis, Increased vertebral height, Short thorax, Platyspondyly, Abnormal metaphysis morp... |
ORPHA:93304 |
Ogden Syndrome |
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Congenital hip dislocation, Bicuspid aortic valve, Apnea, Micrognathia, Cardiomegaly, Secundum at... |
OMIM:300855 |
Fibrous Dysplasia Of Bone |
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Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Pa... |
ORPHA:249 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
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Mandibular prognathia, Hypoplasia of penis, Micrognathia, Short neck, Pectus carinatum, Hypotelor... |
ORPHA:3082 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Limited elbow movement, Micrognathia, Long nose, Increased intervertebral space, Deeply set eye, ... |
ORPHA:508533 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
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Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... |
OMIM:613330 |
Restrictive Dermopathy |
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Osteopenia, Multiple joint contractures, Micrognathia, Decreased skull ossification, Aplasia/Hypo... |
ORPHA:1662 |
Spondylometaphyseal Dysplasia, Axial |
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Rhizomelia, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Coxa vara, Platyspon... |
OMIM:602271 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
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Thin upper lip vermilion, Short 2nd finger, Sandal gap, Broad hallux, Tented upper lip vermilion,... |
OMIM:600987 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
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Enlarged epiphyses, Irregularity of vertebral bodies, Wrist swelling, Coxa vara, Abnormal shoulde... |
ORPHA:1159 |
Radial Ray Hypoplasia With Choanal Atresia |
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Depressed nasal bridge, Choanal atresia, Short thumb, Hypoplasia of the radius, Small thenar emin... |
OMIM:179270 |
Craniosynostosis With Fibular Aplasia |
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Single transverse palmar crease, Craniosynostosis, Fibular aplasia |
OMIM:218550 |
Smith-Magenis syndrome |
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Brachydactyly |
DECIPHER:8 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Single transverse palmar crease, Micromelia, Micrognathia, Short neck, Prominent nose, Delayed ep... |
OMIM:210710 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
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Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Missing ribs, Abnormal... |
ORPHA:3186 |
Bardet-Biedl Syndrome 5 |
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Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
Laurin-Sandrow Syndrome |
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Syndactyly, Underdeveloped nasal alae, Absent radius, Patellar aplasia, Short foot, Hand polydact... |
OMIM:135750 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
Shashi-Pena Syndrome |
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Accelerated skeletal maturation, Atrial septal defect, Short metacarpal, Hypertelorism, Patent du... |
OMIM:617190 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
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Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
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Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... |
ORPHA:157801 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
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Cataract |
ORPHA:1397 |
Coloboma Of Macula With Type B Brachydactyly |
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Type B brachydactyly, Broad distal phalanx of the thumb, Absent distal phalanges, Bifid distal ph... |
OMIM:120400 |
Melnick-Needles Syndrome |
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Micrognathia, Narrow chest, Anisospondyly, Hypertelorism, Short thorax, Abnormal rib morphology, ... |
ORPHA:2484 |
Aniridia 2 |
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Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Basal Cell Nevus Syndrome 1 |
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Mandibular prognathia, Palmar pits, Hemivertebrae, Cardiac fibroma, Abnormal sternum morphology, ... |
OMIM:109400 |
Trichorhinophalangeal Syndrome Type 1 |
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Micrognathia, Short metatarsal, Pectus carinatum, Protruding ear, High palate, Clinodactyly of th... |
ORPHA:77258 |
Congenital Disorder Of Glycosylation, Type Iie |
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Micrognathia, Secundum atrial septal defect, Short neck, Death in infancy, Neonatal asphyxia, Res... |
OMIM:608779 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
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Ulnar deviation of the wrist, Anteverted nares, Micrognathia, Cryptorchidism, Unilambdoid synosto... |
OMIM:618577 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
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Absent eyebrow, Sacral dimple, Inguinal hernia, Tapered toe, Sparse eyelashes, Tapered finger, Bi... |
ORPHA:544488 |
17P13.3 Microduplication Syndrome |
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Wide nose, Congenital hip dislocation, Short neck, High palate, Narrow mouth, Clinodactyly of the... |
ORPHA:217385 |
Frontometaphyseal Dysplasia 1 |
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Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... |
OMIM:305620 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
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Bowing of the long bones, Toe syndactyly, Hypospadias, Anteverted nares, Depressed nasal bridge, ... |
ORPHA:171839 |
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
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Epiphyseal dysplasia, Coxa valga, Genu valgum, Conductive hearing impairment, Short phalanx of fi... |
OMIM:132450 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
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Mandibular prognathia, Osteopenia, Prominent nose, Short metatarsal, Deeply set eye, Clitoral hyp... |
OMIM:614813 |
Eec Syndrome |
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Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Hypospadias, Decreased respon... |
ORPHA:1896 |
Hip Dysplasia, Beukes Type |
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Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
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Distal symphalangism, Prominent nose, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac w... |
OMIM:210720 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Osteopenia, Respiratory distress, Multiple joint contractures, Micrognathia, Metaphyseal widening... |
ORPHA:536467 |
Cataract 12, Multiple Types |
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Progressive cataract, Developmental cataract |
OMIM:611597 |
Cataract 21, Multiple Types |
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Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... |
OMIM:610202 |
Chromosome 6Q11-Q14 Deletion Syndrome |
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Joint laxity, Sacral dimple, Inguinal hernia, Epicanthus, Single transverse palmar crease, Promin... |
OMIM:613544 |
Syndactyly, Type V |
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Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
Neurogenic Arthrogryposis Multiplex Congenita |
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Respiratory distress, Hip contracture, Rocker bottom foot, Ankle flexion contracture, Micrognathi... |
ORPHA:1143 |
Dermatoosteolysis, Kirghizian Type |
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Tarsal synostosis, Abnormality of the hand, Abnormality of the dentition, Abnormality of the wris... |
ORPHA:1657 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Pes planus, Thin bony cortex, Rhizomelia, Femoral bowing, Platyspondyly, Thoracic kyphosis, Short... |
OMIM:619638 |
Exostoses, Multiple, Type Ii |
|
Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val... |
OMIM:133701 |
Exostoses, Multiple, Type I |
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Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val... |
OMIM:133700 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra... |
ORPHA:2911 |
2q37 monosomy |
|
Thin upper lip vermilion, Brachydactyly |
DECIPHER:44 |
Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly, Kyphoscoliosis, Hypoplasia of the odontoid process, Bulbous nose, Wide nas... |
OMIM:612913 |
Pycnodysostosis |
|
Abnormal clavicle morphology, Obtuse angle of mandible, Persistent open anterior fontanelle, Micr... |
ORPHA:763 |
Marshall Syndrome |
|
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... |
OMIM:154780 |
Kuskokwim Syndrome |
|
Abnormal clavicle morphology, Talipes, Joint stiffness, Aplasia/Hypoplasia of the patella, Abnorm... |
ORPHA:1149 |
Schaaf-Yang Syndrome |
|
Mandibular prognathia, Flexion contracture, Micropenis, Tapered finger, Cryptorchidism, Obesity, ... |
OMIM:615547 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Bilateral single transverse palmar creases, Depressed nasal bridge, Mic... |
ORPHA:444002 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f... |
OMIM:101600 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Tapered finger, Flat capital femoral epiphysis, Thenar muscle atrophy, Flexion contra... |
ORPHA:157965 |
Chromosome 15Q26-Qter Deletion Syndrome |
|
Hypospadias, Small for gestational age, Micrognathia, Cryptorchidism, Wide nasal bridge, Short mi... |
OMIM:612626 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Finger clinodactyly, High palate, Short tibia, Finger syndactyly, Broad hallux, Ham... |
ORPHA:2751 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Wide nose, Sacral dimple, Depressed nasal bridge, Ventricular septal defect, Broad nasal tip, Lon... |
OMIM:619995 |
Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Cleft upper lip, Short neck, Cleft palate, Clinodactyly o... |
OMIM:244600 |
Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Posteriorly rotated ears, Micrognathia, Short neck, High, narrow palate, Super... |
ORPHA:1787 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Finger syndactyly, Brachydactyly, Short neck, Hyperlordosis, Wide nasal br... |
ORPHA:710 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Aplasia of ... |
ORPHA:1352 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the max... |
OMIM:224690 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Joint laxity, Barrel-shaped chest, Mandibular prognathia, Lumbar hyperlordosis, Rhizomelia, Short... |
ORPHA:171866 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Mandibular prognathia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal o... |
OMIM:616007 |
Osteogenesis Imperfecta, Type Xix |
|
Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple prenatal fractures, Pec... |
OMIM:301014 |
Fountain Syndrome |
|
Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Craniofacial hyperost... |
ORPHA:3219 |
Diaphanospondylodysostosis |
|
Respiratory distress, Absent in utero ossification of vertebral bodies, Micrognathia, Short neck,... |
OMIM:608022 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Cataract, Rhegmatogenous retinal detachment, Peripheral ... |
ORPHA:891 |
Myhre Syndrome |
|
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Deeply set eye, Short philtrum, Hyp... |
OMIM:139210 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Flar... |
ORPHA:93346 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:253290 |
Solitary Bone Cyst |
|
Back pain, Abnormal tibia morphology, Abnormal pubic bone morphology, Unicameral bone cyst, Patho... |
ORPHA:83468 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of ... |
OMIM:119600 |
Symphalangism, Distal |
|
Absent dorsal skin creases over affected joints, Craniosynostosis, Distal foot symphalangism, Dis... |
OMIM:185700 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Death in infancy, Short neck, Hypertelorism, Cryptorchidism, Patent ductus arteriosus, Perimembra... |
OMIM:608104 |
Neu-Laxova Syndrome 1 |
|
Micromelia, Micrognathia, Swollen lip, Short neck, Calcaneovalgus deformity, Depressed nasal ridg... |
OMIM:256520 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Frontal bossing, Turricephaly, Choanal atresia, Hypertelorism, Hypoplasia of the maxilla, Abnorma... |
ORPHA:93262 |
Even-Plus Syndrome |
|
Epiphyseal dysplasia, Short neck, Bifid nasal tip, Vertebral clefting, Depressed nasal ridge, Cor... |
OMIM:616854 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Synophrys, Wide penis, Hypopla... |
ORPHA:3455 |
Tarp Syndrome |
|
Apnea, Single transverse palmar crease, Micrognathia, Glossoptosis, Atrial septal defect, Small e... |
ORPHA:2886 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Micromelia, Short neck, Micrognathia, Metaphyseal wid... |
OMIM:224400 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Proximal placement of thumb, Micrognathia, Short neck, Anteriorly placed an... |
OMIM:217980 |
Brachydactyly Type E |
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Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper... |
ORPHA:93387 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Delayed eruption of teeth, Dental crowding, Anteverted nares, Kyphoscoliosis, Bulbous nose, Wide ... |
OMIM:616354 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Flat occiput, Micrognathia, Brachycephaly, Downturned corners of mouth, High palate, Atrioventric... |
OMIM:613792 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... |
ORPHA:3312 |
Coccidioidomycosis |
|
Respiratory distress, Pericarditis, Osteomyelitis, Abnormal sperm morphology, Pneumonia, Cough, B... |
ORPHA:228123 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o... |
OMIM:600059 |
Zttk Syndrome |
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Unilateral lung agenesis, Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Protrudi... |
OMIM:617140 |
Achondrogenesis |
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Anteverted nares, Micromelia, Abnormal enchondral ossification, Micrognathia, Short neck, Short t... |
ORPHA:932 |
Epiphyseal Dysplasia, Multiple, 3 |
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Epiphyseal dysplasia, Short metacarpal, Abnormal hip joint morphology, Knee pain, Delayed epiphys... |
OMIM:600969 |
Tetrasomy 5P |
|
Respiratory distress, Micrognathia, Short neck, High palate, Clinodactyly of the 5th finger, Long... |
ORPHA:3309 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Kyphosis, Pectus excavatum, Dentin... |
OMIM:259440 |
Moebius Syndrome |
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Aplasia/Hypoplasia of the thumb, Micrognathia, Aplasia of the pectoralis major muscle, High palat... |
ORPHA:570 |
Brachydactyly Type B |
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Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
Campomelia, Cumming Type |
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Death in infancy, Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Abnormal t... |
ORPHA:1318 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
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Prominent nasal bridge, Abnormality of the dentition, Carious teeth, Prominent nose, Pectus excav... |
ORPHA:3270 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Accelerated skeletal maturation, Abnormal lung lobation, Pectus carinatum,... |
OMIM:312870 |
Mucopolysaccharidosis, Type Iva |
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Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,... |
OMIM:253000 |
Chromosome 2Q37 Deletion Syndrome |
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Short metacarpal, Short fourth metatarsal, Anteverted nares, Depressed nasal bridge, Highly arche... |
OMIM:600430 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
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Syndactyly, Depressed nasal bridge, Thoracic hypoplasia, Postaxial polydactyly, Micromelia, Hypop... |
OMIM:617895 |
Anterior Segment Dysgenesis 8 |
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Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Thanatophoric Dysplasia Type 2 |
|
Depressed nasal bridge, Micromelia, Kyphosis, Limitation of joint mobility, Short thorax, Joint h... |
ORPHA:93274 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
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Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Thin bony cortex, Coxa valg... |
ORPHA:85184 |
Marshall-Smith Syndrome |
|
Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis, Protruding tongue,... |
ORPHA:561 |
Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
Saethre-Chotzen Syndrome |
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Hypoplasia of the maxilla, Brachycephaly, Abnormal form of the vertebral bodies, Hypotelorism, Tr... |
ORPHA:794 |
Weyers Acrofacial Dysostosis |
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Conical tooth, Postaxial hand polydactyly, Postaxial foot polydactyly, Clinodactyly of the 5th fi... |
OMIM:193530 |
Larsen Syndrome |
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Finger syndactyly, Brachydactyly, Depressed nasal bridge, Craniosynostosis, Accessory carpal bone... |
ORPHA:503 |
Apert Syndrome |
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Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum,... |
OMIM:101200 |
Craniosynostosis, Herrmann-Opitz Type |
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Finger syndactyly, Micromelia, Micrognathia, Craniosynostosis, Split hand, Abnormal rib morpholog... |
ORPHA:2145 |
Brachytelephalangic Chondrodysplasia Punctata |
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Cervical kyphosis, Hypoplasia of the maxilla, Tachypnea, Depressed nasal ridge, Atrial septal def... |
ORPHA:79345 |
Holt-Oram Syndrome |
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Finger syndactyly, Abnormal clavicle morphology, Down-sloping shoulders, Absent thumb, Abnormalit... |
ORPHA:392 |
Radio-Renal Syndrome |
|
Depressed nasal bridge, Micromelia, Micrognathia, Short neck, High, narrow palate, Hypoplasia of ... |
ORPHA:3015 |
Heart-Hand Syndrome, Spanish Type |
|
Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydactyly |
OMIM:140450 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
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Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Pl... |
OMIM:601356 |
Bardet-Biedl Syndrome 18 |
|
Brachydactyly |
OMIM:615995 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... |
ORPHA:239 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Wide nose, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Ta... |
OMIM:610017 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Single transverse palmar crease, Micrognathia, Protruding ear, High palate, Atrial septal defect,... |
ORPHA:3304 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Multiple prenatal fractures, Femoral bowing, Tibial bowing, Decreased skull ossificat... |
OMIM:610915 |
Craniosynostosis 3 |
|
Hallux valgus, Single transverse palmar crease, Sagittal craniosynostosis, Dental malocclusion, L... |
OMIM:615314 |
Brachydactyly-Syndactyly, Zhao Type |
|
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... |
ORPHA:93409 |
Cardioacrofacial Dysplasia 2 |
|
Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Recurr... |
OMIM:619143 |
Sheldon-Hall Syndrome |
|
Ulnar deviation of the wrist, Tarsal synostosis, Bilateral single transverse palmar creases, Micr... |
ORPHA:1147 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Anteverted nares, Hea... |
ORPHA:2701 |
Chung-Jansen Syndrome |
|
Epicanthus, Anteverted nares, Joint hypermobility, Tapered finger, Micrognathia, Cryptorchidism, ... |
OMIM:617991 |
Potocki-Shaffer Syndrome |
|
2-5 finger cutaneous syndactyly, Brachydactyly, Epicanthus, Single transverse palmar crease, Tele... |
OMIM:601224 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Pectus excavatum of inferior sternum, Small scrotum, Depressed nasal bridge, Rocker bottom foot, ... |
OMIM:601353 |
Jawad Syndrome |
|
Hallux valgus, Thoracic scoliosis, Single interphalangeal crease of fifth finger, Postaxial polyd... |
OMIM:251255 |
Pelger-Huet Anomaly |
|
Frontal bossing, Depressed nasal bridge, Ventricular septal defect, Abnormality of the dentition,... |
OMIM:169400 |
Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Posteriorly rotated ears, Rocker bottom foot, Micrognathia, Short neck, Cryptor... |
OMIM:618393 |
15Q24 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Proximal placement of thumb, Congenital di... |
ORPHA:94065 |
Alopecia-Intellectual Disability Syndrome |
|
Abnormal nasal morphology, Split hand, Flexion contracture, Scoliosis, Brachydactyly |
ORPHA:2850 |
Clark-Baraitser Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Sandal gap, Anteverted nares, Depressed nasal ... |
OMIM:617752 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Bowing of the long bones, Coarse metaphyseal trabecularization, Epiphyseal stippling, Coronal cle... |
ORPHA:1952 |
Recombinant Chromosome 8 Syndrome |
|
Micrognathia, Brachycephaly, Downturned corners of mouth, Atrial septal defect, Clinodactyly of t... |
OMIM:179613 |
Lateral Meningocele Syndrome |
|
Dental crowding, Bicuspid aortic valve, Micrognathia, Short neck, High palate, Conductive hearing... |
OMIM:130720 |
Arthrogryposis, Distal, Type 2A |
|
Mandibular prognathia, Joint dislocation, Short neck, Knee flexion contracture, Hernia, Spina bif... |
OMIM:193700 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Death in infancy, Block vertebrae, Abnormal odontoid process morphol... |
OMIM:277300 |
Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Short neck, Elevated circula... |
OMIM:612462 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit... |
OMIM:617952 |
Weiss-Kruszka Syndrome |
|
Prominent metopic ridge, Anteverted nares, Single transverse palmar crease, Proximal placement of... |
OMIM:618619 |
Lowry-Wood Syndrome |
|
Epiphyseal dysplasia, Joint stiffness, Elbow dislocation, Coxa vara, Irregular epiphyses, Platysp... |
ORPHA:1824 |
Monosomy 5P |
|
Microretrognathia, Finger syndactyly, Low-set, posteriorly rotated ears, Recurrent fractures, Mic... |
ORPHA:281 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Thin upper lip vermilion, Sacral dimple, Sandal gap, Anteverted nares, Postaxial polydactyly, Mic... |
OMIM:615761 |
Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Hypospadias, Cleft upper lip, Micrognathia, Cleft palate, Right aortic... |
OMIM:231060 |
Pycnodysostosis |
|
Increased bone mineral density, Delayed eruption of primary teeth, Persistence of primary teeth, ... |
OMIM:265800 |
Triphalangeal Thumbs With Brachyectrodactyly |
|
Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly |
OMIM:190680 |
Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones, Micromelia |
OMIM:211990 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares... |
OMIM:612394 |
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction |
|
Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh... |
OMIM:112450 |
Au-Kline Syndrome |
|
Vertebral segmentation defect, Shallow orbits, Clinodactyly of the 5th finger, Prominent metopic ... |
OMIM:616580 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral artery hypoplasia, Short neck, Reduced forced vital capacity, Reduced forced expiratory... |
OMIM:613686 |
Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O... |
ORPHA:50809 |
Borjeson-Forssman-Lehmann Syndrome |
|
Shortening of all middle phalanges of the fingers, Ptosis, Tapered finger, Cryptorchidism, Kyphos... |
OMIM:301900 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Bicuspid aortic valve, Micrognathia, Prominent fingertip pads, Broad hallux, Anteverted nares, Cl... |
OMIM:618529 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Hypertelorism, Diastema, Deep ... |
OMIM:605282 |
Pallister-Hall-Like Syndrome |
|
Death in infancy, Toe syndactyly, Median cleft lip, Depressed nasal bridge, Micromelia, Micrognat... |
OMIM:241800 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl... |
OMIM:615633 |
Gapo Syndrome |
|
Mandibular prognathia, Abnormal clavicle morphology, Dysmenorrhea, Micrognathia, Abnormal form of... |
ORPHA:2067 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnorm... |
ORPHA:93311 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid... |
ORPHA:85167 |
Coffin-Siris Syndrome 6 |
|
Frontal bossing, Wormian bones, Depressed nasal bridge, Posteriorly rotated ears, Kyphoscoliosis,... |
OMIM:617808 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Bicoronal synostosis, Dental crowding, Prominent nasal bridge, Joint stiffness,... |
OMIM:619184 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Flat occiput, Dental crowding, Hypoplasia of the maxilla, Clinodactyly, Br... |
OMIM:614188 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Depressed nasal ridge, Brachycephaly, Orofacial cleft, Abnormal lung lobat... |
OMIM:607872 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Death in infancy, Bicuspid aortic valve, Anomalous origin of lef... |
OMIM:618845 |
Marshall-Smith Syndrome |
|
Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Apnea, Accelerated s... |
OMIM:602535 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly |
ORPHA:2956 |
Chime Syndrome |
|
Depressed nasal ridge, Brachycephaly, Short philtrum, Short palm, Microdontia, Abnormal dental mo... |
ORPHA:3474 |
Autosomal Recessive Stickler Syndrome |
|
Epiphyseal dysplasia, Micrognathia, Cleft palate, Genu valgum, Joint hyperflexibility, Irregular ... |
ORPHA:250984 |
Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
Peripheral Dysostosis |
|
Joint stiffness, Osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly... |
ORPHA:1795 |
Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Frontal bossing, Enlarged joints, Depressed nasal bridge, Tapered finger, P... |
OMIM:607131 |
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant |
|
Toe syndactyly, Selective tooth agenesis, Conical tooth, Absent middle phalanx of 5th finger, Tri... |
OMIM:124480 |
2Q37 Microdeletion Syndrome |
|
Short neck, Downturned corners of mouth, Deeply set eye, Short palm, Clinodactyly of the 5th fing... |
ORPHA:1001 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Pectus carinatum, High palate... |
ORPHA:93315 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Short foot, Narrow palm, Abnormal ulnar metaphysis morphology, Small hand |
ORPHA:177910 |
Nager Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Joint stiffness, Abnormality of the lower limb, No... |
ORPHA:245 |
Miller-Dieker Syndrome |
|
Sacral dimple, Anteverted nares, Abnormal upper lip morphology, Clinodactyly of the 5th finger, S... |
ORPHA:531 |
Pierpont Syndrome |
|
Uplifted earlobe, Short neck, Brachycephaly, Deeply set eye, Widely spaced teeth, Prominent finge... |
ORPHA:487825 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Arachnodactyly, Pectus excavatum, Secundum atrial septal defect, Brachycephaly, Pectus carinatum,... |
OMIM:619910 |
Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, Osteoarthritis, Brachycephaly, Pectus carinatum, High palate, Bilater... |
OMIM:615582 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Joint laxity, Pes planus, Mandibular prognathia, Sandal gap, Depressed nasal bridge, Kyphosis, Bu... |
OMIM:300354 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Camptodactyly of finger, Micrognathia, Cryptorchidism, Wide nasal brid... |
ORPHA:2863 |
Robinow-Sorauf Syndrome |
|
Hallux valgus, Broad hallux, Malar flattening, Craniosynostosis, Long nose, Bilateral ptosis, Pan... |
OMIM:180750 |
Vitamin D-Dependent Rickets, Type 2A |
|
Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed rib cage, Femoral bowing... |
OMIM:277440 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Kyphoscoliosis, Postaxial hand p... |
ORPHA:65759 |
Non-Syndromic Bicoronal Craniosynostosis |
|
Metacarpal synostosis, Brachydactyly |
ORPHA:35099 |
Zimmermann-Laband Syndrome 3 |
|
Broad nasal tip, Kyphosis, Aplasia of the distal phalanx of the 5th toe, Flexion contracture, Syn... |
OMIM:618658 |
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Mandibular prognathia, Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia |
ORPHA:2252 |
Trisomy 4P |
|
Low-set, posteriorly rotated ears, Depressed nasal bridge, Camptodactyly of finger, Hypospadias, ... |
ORPHA:1738 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Talipes, Recurrent fractures, Craniosynostosis, Narrow m... |
ORPHA:83 |
Rothmund-Thomson Syndrome |
|
Delayed eruption of teeth, Hypoplasia of the ulna, Plantar hyperkeratosis, Osteopenia, Abnormal t... |
ORPHA:2909 |
Intellectual Developmental Disorder, Autosomal Dominant 59 |
|
Sacral dimple, Short foot, Long philtrum, Short palm, Brachydactyly |
OMIM:618522 |
Focal Facial Dermal Dysplasia Type Iii |
|
Epicanthus, Sparse lower eyelashes, Lacrimation abnormality, Highly arched eyebrow, Abnormal sacr... |
ORPHA:1807 |
Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, High, narrow palate, Protruding ear, Vertebral segmentation defect, Microd... |
ORPHA:96169 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Respiratory distress, Wide nose, Rocker bottom foot, 4-layered lissencephaly, ... |
ORPHA:89844 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Absent eyebrow, Short metacarpal, Inguinal hernia, Craniosynostosis, Micrognathia,... |
ORPHA:166035 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Limited elbow movement, Short neck, Coxa vara, Pectus carinatum, Delayed ca... |
OMIM:183900 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Single transverse palmar crease, Micrognathia, Clinodactyly, Hypotelorism, Glossoptosis, Deeply s... |
OMIM:613604 |
Muenke Syndrome |
|
Clinodactyly, Brachycephaly, High palate, Short middle phalanx of toe, Thimble-shaped middle phal... |
OMIM:602849 |
Roifman-Chitayat Syndrome |
|
Osteopenia, Short metacarpal, Lacrimal duct stenosis, Depressed nasal bridge, Short neck, Short m... |
OMIM:613328 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Abnormal thorax morphology, Small hand, Narrow palm, Azoosp... |
ORPHA:1445 |
Dysostosis Multiplex, Ain-Naz Type |
|
Glenoid fossa hypoplasia, Hip dislocation, Hemivertebrae, Flat acetabular roof, Elongated femoral... |
OMIM:619345 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Dental crowding, Single transverse palmar crease, Micrognathia, Oligodontia, High palate, Short p... |
OMIM:617061 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Micrognathia, Small hand, Fibular hypoplasia, Downtur... |
ORPHA:444077 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Increased intervertebra... |
OMIM:224300 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Natal tooth, Mandibular prognathia, Broad long bones, Dental crowding, Coxa valga, Ca... |
OMIM:269300 |
Craniodigital-Intellectual Disability Syndrome |
|
Narrow nasal bridge, Finger syndactyly, Micrognathia, Short nose, Spina bifida occulta |
ORPHA:1514 |
Laron Syndrome |
|
Limb undergrowth, Short long bone |
OMIM:262500 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple prenatal fractures, Severe gener... |
OMIM:259420 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th... |
ORPHA:2502 |
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures |
|
Thin upper lip vermilion, Dental crowding, Brachydactyly |
OMIM:618879 |
Brachydactyly Type B2 |
|
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Short neck, Lobulated tongue, Thoracic dysplasia, Narrow chest, Short palm, N... |
OMIM:269860 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Absent tragus, Micrognathia, Hypoplasia of the maxilla, Conductive hearing impairment, Atrial sep... |
ORPHA:79113 |
Cooper-Jabs Syndrome |
|
Low-set, posteriorly rotated ears, Frontal bossing, Anteverted nares, Camptodactyly of finger, Pr... |
ORPHA:1488 |
Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth, Scoliosis, Camptodac... |
OMIM:619751 |
Aicardi Syndrome |
|
Protruding ear, Short philtrum, Pachygyria, Intestinal polyposis, Prominence of the premaxilla, C... |
ORPHA:50 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Metaphyseal chondrodysplasia, Depressed nasal ridge, Abnormal form of the... |
ORPHA:175 |
48,Xyyy Syndrome |
|
Pes planus, Depressed nasal bridge, Short neck, Abnormal foot morphology, Thick lower lip vermili... |
ORPHA:99329 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Syndactyly, Depressed nasal bridge, Broad na... |
OMIM:619736 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Hemivertebrae, Abnormal form of the vertebral bodies, Clinodactyly of the 5... |
ORPHA:2759 |
Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Short neck, Brachycephaly, Tetraphocomelia, Knee flexion contracture, High palate, ... |
OMIM:268300 |
Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Short metacarpal, Short metatarsal, Oligodontia, Brachydactyly |
OMIM:613382 |
Trisomy 13 |
|
High, narrow palate, Abnormal lung lobation, Hypotelorism, Deeply set eye, Narrow chest, Atrial s... |
ORPHA:3378 |
Achondrogenesis, Type Ii |
|
Microretrognathia, Absent vertebral body mineralization, Barrel-shaped chest, Broad long bones, S... |
OMIM:200610 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Depressed nasal bridge, Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypopl... |
OMIM:119800 |
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema |
|
Diastema, Hypoplasia of the radius, Nonopposable triphalangeal thumb |
OMIM:179250 |
Cardiospondylocarpofacial Syndrome |
|
Brachydactyly, High, narrow palate, Abnormal form of the vertebral bodies, Short palm, Failure of... |
ORPHA:3238 |
Hypophosphatasia, Infantile |
|
Death in infancy, Micromelia, Bowing of the legs, Abnormality of the dentition, Craniosynostosis,... |
OMIM:241500 |
Shprintzen-Goldberg Syndrome |
|
Osteopenia, Apnea, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Abnormal form of... |
ORPHA:2462 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Short neck, Death in childhood, Bifid uvula, Anteverted nares, Cryptorchidism, Patent ductus arte... |
OMIM:612938 |
Bartsocas-Papas Syndrome 1 |
|
Short neck, Bilateral cryptorchidism, Cicatricial lagophthalmos, Hypoplasia of the maxilla, Flexi... |
OMIM:263650 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Thoracic hypoplasia, Micromelia, Micrognathia, Wide nasal bridge, Short... |
OMIM:224410 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... |
OMIM:603546 |
Cardioacrofacial Dysplasia 1 |
|
Postaxial polydactyly, Accessory oral frenulum, Diastema, Conical tooth, Hypoplasia of the maxill... |
OMIM:619142 |
Achard Syndrome |
|
Joint laxity, Arachnodactyly, Micrognathia, Broad skull, Brachycephaly |
OMIM:100700 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Exaggerated cupid's bow, Rocker bottom foot, Anteverted nares, Wide mouth, Delayed eruption of pe... |
OMIM:618506 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Anteverted nares, Single transverse palmar crease, Narrow nasal ridge, Short n... |
OMIM:236500 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Dental crowding, Convex nasal ridge, Micrognathia, Short neck, Generalized joint laxi... |
ORPHA:251028 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Narrow chest, Scoliosis, Brachydactyly |
OMIM:613819 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Osteoarthritis, Generalized joint laxit... |
OMIM:618000 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Progressive cataract, Optic nerve dysplasia, Developmental cataract |
OMIM:246000 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Thoracic kyphoscoliosis, Vertebral fusion, Exaggerated median tongue furrow, Dental crowding, Fro... |
ORPHA:313892 |
Orofaciodigital Syndrome Xvii |
|
Prominent metopic ridge, Median cleft lip, Prominent nose, Short middle phalanx of the 2nd finger... |
OMIM:617926 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Narrow nasal bridge, Irregularity of vertebral bodies, Convex nasal ridge, Hypoplasia of the odon... |
ORPHA:85172 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Brachycephaly, Metatar... |
OMIM:259600 |
Symphalangism, Proximal, 1A |
|
Stapes ankylosis, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... |
OMIM:185800 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate... |
OMIM:609655 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... |
OMIM:600785 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone morpholo... |
OMIM:144750 |
20P12.3 Microdeletion Syndrome |
|
Broad hallux phalanx, Depressed nasal bridge, Thickened helices, Hypertelorism, Hypoplasia of the... |
ORPHA:261295 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Short neck, Irregular vertebral endplates, Posterior scalloping of vertebral bodies, Long fibula,... |
OMIM:610442 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
|
Short foot, Abnormal hand morphology, Small hand, Cleft palate |
OMIM:300261 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Camptodactyly of finger, Prominent nasal bridge, Tapered finger, Hypoplasia of the maxilla, Micro... |
ORPHA:85279 |
Astley-Kendall Dysplasia |
|
Epiphyseal stippling, Micromelia |
ORPHA:85175 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Small scrotum, Increased density of long bones, Single transvers... |
OMIM:269150 |
Microtriplication 11Q24.1 |
|
Wide nose, Short neck, Metatarsus adductus, Limitation of joint mobility, Small hand, Cleft palat... |
ORPHA:289522 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Hypoplastic right heart, Micrognathia, Preaxial polydactyly, Brachycephaly, High palate, Atrial s... |
OMIM:618142 |
Mucolipidosis Type Iii |
|
Craniofacial hyperostosis, Joint stiffness, Hyperlordosis, Cleft palate, Reduced bone mineral den... |
ORPHA:577 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Sin... |
OMIM:619503 |
Frontometaphyseal Dysplasia 2 |
|
Congenital hip dislocation, Bicuspid aortic valve, Elbow contracture, Deep philtrum, Short metata... |
OMIM:617137 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Ulnar deviation of the wrist, Camptodactyly of finger, Dep... |
ORPHA:1529 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Small scrotum, Hypotelorism, Downturned corners of mouth, Advanced eruption of teeth, Prominence ... |
ORPHA:2215 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short lingual frenulum, Micromelia, Fused teeth, High palate, Narrow chest, Thoracic dysplasia, M... |
OMIM:614091 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the epiphysis of the femoral head, Micrognathia, Coxa vara, Narrow greater sciatic... |
ORPHA:93316 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Single transverse palmar crease, Micrognathia, Choanal stenosis, Micropenis... |
ORPHA:83617 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Limb undergrowth, Abnormal cortical bone morphology, Increased bone mineral density, Abnormal lim... |
ORPHA:2204 |
Tarsal-Carpal Coalition Syndrome |
|
Tarsal synostosis, Cubitus valgus, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints... |
OMIM:186570 |
Camurati-Engelmann Disease |
|
Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick... |
ORPHA:1328 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Furrowed tongue, Abnormal pelvic ... |
ORPHA:2928 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Joint hyp... |
OMIM:614856 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Craniofacial hyperostosis, Entropion, Flat nasal alae, Cryptorchidis... |
ORPHA:910 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Rocker bottom foot, Single transverse palmar crease, Micrognathia, Microcephaly, Cryptorchidism, ... |
OMIM:611890 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Anteverted nares, Ovoid vertebral bodies, Short hallux, ... |
ORPHA:1517 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Peho-Like Syndrome |
|
Open mouth, Retrognathia, Short nose, Tapered finger |
OMIM:617507 |
Cerebrofaciothoracic Dysplasia |
|
Epicanthus, Wide nose, Short neck, Synophrys, Hemivertebrae, Rib fusion, Sprengel anomaly, Verteb... |
ORPHA:1394 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o... |
OMIM:606895 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal rib mor... |
ORPHA:2345 |
Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac... |
OMIM:253010 |
Osteoarthritis With Mild Chondrodysplasia |
|
Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endpla... |
OMIM:604864 |
Oculomaxillofacial Dysostosis |
|
Median cleft lip, Camptodactyly of finger, Abnormality of the dentition, Abnormality of the humer... |
ORPHA:1794 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Joint laxity, Thin upper lip vermilion, Brachydactyly, Limited elbow extension and supination, In... |
ORPHA:401935 |
Occipital Horn Syndrome |
|
Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Pectus carinatum, Narrow chest, Short ... |
ORPHA:198 |
Trichorhinophalangeal Syndrome Type 2 |
|
Thin upper lip vermilion, Bilateral single transverse palmar creases, Talipes, Abnormality of the... |
ORPHA:502 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Joint laxity, High, narrow palate, Dental malocclusion, Brachydactyly |
OMIM:619692 |
Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand |
OMIM:610140 |
Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact... |
OMIM:183600 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Abnormal thorax morphology, Recurrent... |
ORPHA:508542 |
Cardiospondylocarpofacial Syndrome |
|
Pseudoepiphyses, Atrial septal defect, Conductive hearing impairment, Patent foramen ovale, Joint... |
OMIM:157800 |
Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Distal clavicular thinning, Micromelia, Male pseudohermaphroditism, Upslanted p... |
OMIM:600092 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Prominent nasal tip, Scapular winging, Lumbar hyperlordosis, Anteverte... |
OMIM:612921 |
Orofaciodigital Syndrome Xix |
|
Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Broad ... |
OMIM:620107 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Congenital hip dislocation, Cardiomegaly, Dextrotransposition of the great ... |
OMIM:306955 |
Oculofaciocardiodental Syndrome |
|
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, Patent ductus arteriosus, ... |
ORPHA:2712 |
Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... |
OMIM:187760 |
Aicardi Syndrome |
|
Proximal placement of thumb, Hemivertebrae, Pachygyria, Prominence of the premaxilla, Anteverted ... |
OMIM:304050 |
Kury-Isidor Syndrome |
|
Finger syndactyly, Sacral dimple, Tented upper lip vermilion, Anteverted nares, Rocker bottom foo... |
OMIM:619762 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology, Downturned corners of mouth, Abnormal epiphysis morphology, Enamel hypop... |
ORPHA:2643 |
Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Osteopenia, Thin upper lip vermilion, Joint hypermobility, Abnormality of the hand, Abnormality o... |
ORPHA:576283 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... |
OMIM:611040 |
Acrofrontofacionasal Dysostosis |
|
Brachydactyly, Camptodactyly of finger, Micromelia, Broad nasal tip, Non-midline cleft lip, Cleft... |
ORPHA:1784 |
Raine Syndrome |
|
Mandibular prognathia, Micromelia, Micrognathia, Short neck, Brachycephaly, Protruding ear, Choan... |
OMIM:259775 |
Abruzzo-Erickson Syndrome |
|
Toe syndactyly, Short toe, Cleft palate, Ulnar deviation of finger, Radioulnar synostosis, Abnorm... |
ORPHA:921 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosi... |
OMIM:313400 |
Fanconi Anemia, Complementation Group O |
|
Death in infancy, Miscarriage, Proximal placement of thumb, Absent thumb, Short thumb, Rectal atr... |
OMIM:613390 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Micrognathia, Short neck, Downturned corners of mouth, Oligodontia, Short philtrum, Joint laxity,... |
ORPHA:391408 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ... |
OMIM:303600 |
Acrofacial Dysostosis, Catania Type |
|
Smooth philtrum, Finger syndactyly, Microretrognathia, Bilateral single transverse palmar creases... |
ORPHA:1786 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Abnormal clavicle morphology, Micrognathia, Abnormality of the ear, Abnorm... |
ORPHA:2710 |
4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Depressed nasal bridge, Micromelia, Abnormality of the dentition, Short neck, Kyp... |
ORPHA:238750 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Small scrotum, Brachydactyly, Camptodactyly of finger, Highly arched eyebrow... |
ORPHA:2083 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Pseudoaminopterin Syndrome |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Orofacial cleft, High pala... |
ORPHA:221120 |
Achondrogenesis, Type Ib |
|
Micromelia, Hypoplastic ilia, Stillbirth, Narrow chest, Absent or minimally ossified vertebral bo... |
OMIM:600972 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Prominent nose, Long nose, Depressed nasal ridge, Abnormal form of the ver... |
ORPHA:2769 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... |
OMIM:612576 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Mandibular prognathia, Bicuspid aortic valve, Brachycephaly, Atrial septal defect, Clinodactyly o... |
OMIM:619721 |
Immunodeficiency 43 |
|
Hypoplasia of the ulna, Radial bowing |
OMIM:241600 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
Coffin-Siris Syndrome 2 |
|
High palate, Short philtrum, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Delayed sk... |
OMIM:614607 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Metaphyseal chondrodysplasi... |
ORPHA:93317 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Pectus... |
OMIM:178110 |
Micromelic Bone Dysplasia With Cloverleaf Skull |
|
Micromelia |
OMIM:156830 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Stapes ankylosis, Toe syndactyly, Broad hallux, Underdeveloped nasal alae, Long nose, Congenital ... |
OMIM:184460 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Multiple small verteb... |
OMIM:619795 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Thoracic hypoplasia, Short neck, Hypo... |
OMIM:187600 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Metaphyseal dysplasia, Bowing of the legs, Delayed skeletal maturation, Reduced bone mineral dens... |
OMIM:617974 |
Laron Syndrome |
|
Delayed eruption of teeth, Hypoplastic nasal bridge, Aplasia/Hypoplasia involving the nose, Micro... |
ORPHA:633 |
Distal Deletion 10Q |
|
Single transverse palmar crease, Micrognathia, Prominent nose, 2-3 toe cutaneous syndactyly, Shor... |
ORPHA:96148 |
Acromelic Frontonasal Dysostosis |
|
Syndactyly, Cleft upper lip, Broad nasal tip, Bifid nasal tip, Preaxial polydactyly, Preaxial foo... |
OMIM:603671 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
Metacarpal 4-5 Fusion |
|
Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t... |
OMIM:309630 |
Cooks Syndrome |
|
Split hand, Broad thumb, Triphalangeal thumb, Brachydactyly |
ORPHA:1487 |
Mycetoma |
|
Back pain, Abnormality of the knee, Osteomyelitis, Abnormality of the hand, Structural foot defor... |
ORPHA:2583 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hyperextensibility of the finger joints, Patellar hypoplasia, High palate, Short philtrum, Thorac... |
ORPHA:3041 |
Ivic Syndrome |
|
Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad... |
ORPHA:2307 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... |
OMIM:193220 |
2Q24 Microdeletion Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Short neck, Long fingers, Bullet-shaped distal phalanx o... |
ORPHA:1617 |
Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, Anteverted ears, Hypotelorism, High palate, Widely spaced teeth, Prominent... |
OMIM:610443 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Frontal bossing, Sacral dimple, Craniosynostosis, Underdeveloped nasal alae, Micrognathia, Dolich... |
ORPHA:1516 |
48,Xxyy Syndrome |
|
Hypoplasia of penis, Flat occiput, Apnea, Abnormal shoulder morphology, Clinodactyly of the 5th f... |
ORPHA:10 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Triph... |
OMIM:154400 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Abnormal dental enamel ... |
ORPHA:2050 |
Mullegama-Klein-Martinez Syndrome |
|
Prominent nose, Micrognathia, Short philtrum, Clinodactyly of the 5th finger, Bifid uvula, Depres... |
OMIM:301022 |
Polydactyly, Postaxial, Type A8 |
|
Short stature, Postaxial polydactyly, Genu valgum |
OMIM:618123 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Sandal gap, Arachnodactyly, Micromelia, Anteverted nares, Genu valgum, Joint hyperflexibility, Hi... |
ORPHA:1035 |
Trisomy 8Q |
|
Hypoplasia of penis, Micrognathia, Short neck, Orofacial cleft, Protruding ear, Long thorax, High... |
ORPHA:1752 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Depressed nasal bridge, Ventricular septal defect, Hypospadias, Micrognathia, Missing... |
OMIM:220210 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Brachycephaly, Abnormal form of ... |
ORPHA:819 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Micrognathia, Short neck, Limitation of joint mobility, Abnormality of the e... |
ORPHA:1486 |
Meckel Syndrome, Type 8 |
|
Short neck, Cleft upper lip, Depressed nasal ridge, Cleft palate, Polydactyly, Talipes equinovaru... |
OMIM:613885 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Proximal placement of thumb, Micrognathia, Prominent nose, High, narrow pa... |
ORPHA:435638 |
Tonne-Kalscheuer Syndrome |
|
Micrognathia, Prominent nose, Hypotelorism, Downturned corners of mouth, Widely spaced teeth, Mic... |
OMIM:300978 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Pes planus, Short femur, Dental crowding, Ta... |
OMIM:300990 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Deep philtrum, Brachycephaly, High palate, Clinodactyly of the 5th finger, Syndactyly, Vertebral ... |
OMIM:227330 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ... |
OMIM:616108 |
Trisomy 8P |
|
Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Abnormal a... |
ORPHA:264450 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Rocker bottom foot, Micrognathia, Cleft palate, Talipes equinovarus, Arthrogryposis multiplex con... |
OMIM:616570 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Short distal phalanx of toe, Natal tooth, Brachydactyly, Mandibular prognathia, Single transverse... |
OMIM:601957 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Everted upper lip vermilion, Hearing impairment, Abnormality of the dentit... |
OMIM:182290 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Tented upper lip vermilion, Flat occiput, Flexion contracture, Pectus carin... |
OMIM:619383 |
Chromosome 8Q21.11 Deletion Syndrome |
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Syndactyly, Short metacarpal, Epicanthus, Short neck, Micrognathia, Cryptorchidism, Underdevelope... |
OMIM:614230 |
Legg-Calvé-Perthes Disease |
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Joint dislocation, Abnormality of the dentition, Cartilage destruction, Delayed skeletal maturati... |
ORPHA:2380 |
Cornelia De Lange Syndrome 5 |
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Proximal placement of thumb, Micrognathia, Short neck, Brachycephaly, Downturned corners of mouth... |
OMIM:300882 |
Weaver Syndrome |
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Hypoplasia of penis, Micrognathia, Accelerated skeletal maturation, Deep philtrum, Long philtrum,... |
ORPHA:3447 |
Stickler Syndrome, Type I |
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Arthropathy, Micrognathia, Osteoarthritis, Conductive hearing impairment, Bifid uvula, Arachnodac... |
OMIM:108300 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
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Thin upper lip vermilion, Rhizomelia, Short iliac bones, Metaphyseal widening, Wide nasal bridge,... |
OMIM:614376 |
Robinow Syndrome, Autosomal Dominant 1 |
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Short lingual frenulum, Dental crowding, Micrognathia, Short neck, Orofacial cleft, Downturned co... |
OMIM:180700 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
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Thin upper lip vermilion, Brachydactyly, Joint stiffness, Anosmia, Genu valgum, Hypoplasia of the... |
ORPHA:1295 |
Leber Congenital Amaurosis 8 |
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Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:613835 |
Aymé-Gripp Syndrome |
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Congenital diaphragmatic hernia, Shallow orbits, Clinodactyly of the 5th finger, Prominent metopi... |
ORPHA:1272 |
Phaver Syndrome |
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Broad hallux phalanx, Depressed nasal bridge, Camptodactyly of finger, Joint stiffness, Short thu... |
ORPHA:2876 |
Congenital Myopathy 10A, Severe Variant |
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Respiratory distress, Camptodactyly of finger, Pectus excavatum, Cleft palate, Respiratory insuff... |
OMIM:614399 |
Trisomy 20P |
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Micrognathia, Short neck, Brachycephaly, Abnormal form of the vertebral bodies, Reduced bone mine... |
ORPHA:261318 |
Mucopolysaccharidosis Type 6 |
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Epiphyseal dysplasia, Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, Thick lower ... |
ORPHA:583 |
Dislocation Of The Hip-Dysmorphism Syndrome |
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Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Anteverted nar... |
ORPHA:2412 |
Congenital Myopathy 22B, Severe Fetal |
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Respiratory distress, Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Micrognath... |
OMIM:620369 |
Dermatosparaxis Ehlers-Danlos Syndrome |
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Osteopenia, Joint dislocation, Micrognathia, Coxa vara, Hernia, Abnormality of subcutaneous fat t... |
ORPHA:1901 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
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Hypergonadotropic hypogonadism, Short neck, Obesity, Azoospermia, Cubitus valgus, Abnormality of ... |
ORPHA:2183 |
Pentasomy X |
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Camptodactyly of finger, Micrognathia, Small hand, Wide nasal bridge, Short foot, Radioulnar syno... |
ORPHA:11 |
Cardiocranial Syndrome, Pfeiffer Type |
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Contracture of the proximal interphalangeal joint of the 2nd finger, Episodic tachypnea, Microgna... |
ORPHA:2872 |
Rubinstein-Taybi Syndrome |
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Micrognathia, Clinodactyly of the 5th finger, Finger syndactyly, Broad hallux phalanx, Highly arc... |
ORPHA:783 |
Suleiman-El-Hattab Syndrome |
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Single transverse palmar crease, Protruding ear, Downturned corners of mouth, High palate, Atrial... |
OMIM:618950 |
Jansen-De Vries Syndrome |
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Thin upper lip vermilion, Anteverted nares, Hyperlordosis, Small hand, Wide mouth, Short foot, Br... |
OMIM:617450 |
Apert Syndrome |
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Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Hypoplasia of the maxilla, Ve... |
ORPHA:87 |
Robinow Syndrome, Autosomal Dominant 3 |
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Hypoplastic right heart, Micrognathia, Short neck, Anteriorly placed anus, Downturned corners of ... |
OMIM:616894 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
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Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Depressed nasal bridge, Craniosynostosis... |
OMIM:614732 |
Charge Syndrome |
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Abnormal palmar dermatoglyphics, External genital hypoplasia, Micrognathia, Secundum atrial septa... |
OMIM:214800 |
Cataract 9, Multiple Types |
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Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
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Hip osteoarthritis, Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly |
OMIM:619248 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
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Abnormal clavicle morphology, Abnormal dental morphology, Hypospadias, Micrognathia, Pectus excav... |
ORPHA:2522 |
Gillessen-Kaesbach-Nishimura Syndrome |
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Micrognathia, Short neck, Metaphyseal widening, Flexion contracture, Abnormal lung lobation, Brac... |
OMIM:263210 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
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Short distal phalanx of toe, Anteverted nares, Micrognathia, Short nose, Delayed eruption of perm... |
OMIM:619356 |
Partial Chromosome Y Deletion |
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Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Unilateral lung agenesis, Hypoplasia of the maxilla, Hemivertebrae, Simplified gyral pattern, Pro... |
ORPHA:500150 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
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Osteomyelitis, Rocker bottom foot, Recurrent fractures, Micrognathia, Prominent nose, Talipes equ... |
ORPHA:453510 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
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Genu recurvatum, Anteverted nares, Reduced bone mineral density, Downturned corners of mouth, Sle... |
ORPHA:1185 |
Periventricular Nodular Heterotopia 7 |
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Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Dental cr... |
OMIM:617201 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... |
OMIM:600081 |
Nicolaides-Baraitser Syndrome |
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Enlarged joints, Single transverse palmar crease, Short metatarsal, Prominent interphalangeal joi... |
OMIM:601358 |
Cantu Syndrome |
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Short neck, Large for gestational age, Metaphyseal widening, Narrow chest, Erlenmeyer flask defor... |
OMIM:239850 |
Spastic Paraplegia 20, Autosomal Recessive |
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Ulnar deviation of the hand, Kyphoscoliosis, Flexion contracture, Hyperextensible hand joints, Sh... |
OMIM:275900 |
Malan Syndrome |
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Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Pectus excavatum, Long fingers,... |
OMIM:614753 |
Ulnar-Mammary Syndrome |
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Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... |
OMIM:181450 |
Leber Congenital Amaurosis 2 |
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Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... |
OMIM:204100 |
Mosaic Trisomy 20 |
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Micrognathia, Vertebral segmentation defect, Narrow chest, Limited pronation/supination of forear... |
ORPHA:1724 |
Pseudopseudohypoparathyroidism |
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Short distal phalanx of the 3rd finger, Short metatarsal, Short 5th finger, Short distal phalanx ... |
ORPHA:79445 |
Bullous Dystrophy, Hereditary Macular Type |
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Microcephaly, Tapered finger, Short finger, Death in childhood, Acrocyanosis |
OMIM:302000 |
Cornelia De Lange Syndrome 1 |
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Single transverse palmar crease, Proximal placement of thumb, Micromelia, Micrognathia, High, nar... |
OMIM:122470 |
Prieto Syndrome |
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11 pairs of ribs, Coxa valga, Prominent nose, Abnormality of the dentition, Cryptorchidism, Hyper... |
OMIM:309610 |
Marinesco-Sjögren Syndrome |
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Short palm, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnormal finger morp... |
ORPHA:559 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
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Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect |
OMIM:608681 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
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Wide nose, Anteverted nares, Depressed nasal bridge, Micrognathia, Pyloric stenosis, Small hand, ... |
ORPHA:96184 |
Pfeiffer Syndrome Type 1 |
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Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Depress... |
ORPHA:93258 |
Radial Hemimelia |
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Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H... |
ORPHA:93321 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
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Parachute mitral valve, Prominent nose, Deeply set eye, Short philtrum, Atrial septal defect, Pul... |
OMIM:618316 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
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Decreased palmar creases, Micrognathia, Congenital contracture, Short philtrum, Joint contracture... |
ORPHA:352490 |
Acrocallosal Syndrome |
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Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... |
OMIM:200990 |
Congenital Disorder Of Glycosylation, Type Ie |
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Short palm, Respiratory distress, Flat occiput, Depressed nasal bridge, Ankle flexion contracture... |
OMIM:608799 |
Alpha-Mannosidosis |
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Mandibular prognathia, Short neck, Widely spaced teeth, Hypoplastic inferior ilia, Chronic otitis... |
ORPHA:61 |
Roberts Syndrome |
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Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Short neck, Knee flex... |
ORPHA:3103 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
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Osteopenia, Progeroid facial appearance, Hypoplasia of the maxilla, Sensorineural hearing impairm... |
OMIM:608154 |
Auriculocondylar Syndrome 2A |
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Respiratory distress, Dental crowding, Apnea, Micrognathia, Glossoptosis, Mandibular condyle apla... |
OMIM:614669 |
Radio-Tartaglia Syndrome |
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Dental crowding, Micrognathia, High, narrow palate, Deeply set eye, High palate, Short philtrum, ... |
OMIM:619312 |
Hajdu-Cheney Syndrome |
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Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Bone pain, Pectus carinatum, Downtu... |
ORPHA:955 |
Progressive Pseudorheumatoid Dysplasia |
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Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joi... |
OMIM:208230 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
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Tapered finger, Hypoplasia of the maxilla, Long fingers, Hypertelorism, Flexion contracture, Resp... |
OMIM:218000 |
Lateral Meningocele Syndrome |
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Dental crowding, Micrognathia, Short neck, High, narrow palate, Abnormal form of the vertebral bo... |
ORPHA:2789 |
Joubert Syndrome 18 |
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Joint laxity, Trident pelvis, Bowing of the long bones, Postaxial polydactyly, Kyphoscoliosis, Cl... |
OMIM:614815 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
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Short toe, Short finger, Clinodactyly of the 5th finger, Short 5th metacarpal, Brachydactyly |
OMIM:604381 |
Monosomy 18P |
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Kyphoscoliosis, Micrognathia, Carious teeth, Short neck, Pectus excavatum, Wide nasal bridge, Cle... |
ORPHA:1598 |
Renpenning Syndrome |
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Mandibular prognathia, Prominent nose, High, narrow palate, Short philtrum, Clinodactyly of the 5... |
ORPHA:3242 |
Mesomelia-Synostoses Syndrome |
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Microretrognathia, Ulnar deviation of the hand, Abnormal vertebral morphology, Progressive forear... |
OMIM:600383 |
Aredyld Syndrome |
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Mandibular prognathia, Craniofacial hyperostosis, Abnormal dental enamel morphology, Abnormal nas... |
ORPHA:1133 |
Zechi-Ceide Syndrome |
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Wide nose, Sandal gap, Cleft upper lip, Underdeveloped nasal alae, Short metatarsal, Wide nasal b... |
OMIM:612916 |
Congenital Disorder Of Glycosylation, Type Iic |
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Short foot, Bulbous nose, Periodontitis, Brachydactyly |
OMIM:266265 |
Rothmund-Thomson Syndrome Type 2 |
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Osteopenia, Joint dislocation, Long nose, Patellar hypoplasia, Short phalanx of finger, Genu varu... |
ORPHA:221016 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
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Micrognathia, Pectus excavatum, Osteoarthritis, Cleft palate, Pectus carinatum, Glossoptosis, Abn... |
ORPHA:166100 |
Brachydactyly, Type E1 |
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Short metacarpal, Short metatarsal, Straight clavicles, Multiple impacted teeth, Short clavicles,... |
OMIM:113300 |
Meckel Syndrome 14 |
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Occipital encephalocele, Micrognathia, Short neck, Single ventricle, Microretrognathia, Syndactyl... |
OMIM:619879 |
2Q32Q33 Microdeletion Syndrome |
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Broad hallux phalanx, Toe clinodactyly, Dental crowding, Arachnodactyly, Anteverted nares, Microg... |
ORPHA:251019 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
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Death in infancy, Talipes, Camptodactyly of finger, Micrognathia, Narrow mouth, Short nose, Abnor... |
ORPHA:1495 |
8Q22.1 Microdeletion Syndrome |
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Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Abnormality of the dent... |
ORPHA:178303 |
Bardet-Biedl Syndrome 7 |
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Depressed nasal bridge, Postaxial polydactyly, Hypertelorism, 2-3 toe syndactyly, Deeply set eye,... |
OMIM:615984 |
Hypophosphatemic Rickets, X-Linked Dominant |
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Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Enamel hypominera... |
OMIM:307800 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
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Limb joint contracture, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Craniosy... |
ORPHA:284417 |
Whistling Face Syndrome, Recessive Form |
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Shoulder flexion contracture, Prominent nasal bridge, Micrognathia, Underdeveloped nasal alae, Tr... |
OMIM:277720 |
Nasopalpebral Lipoma-Coloboma Syndrome |
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Lipomas of eyelids, Absent lacrimal punctum, Telecanthus, Depressed nasal bridge, Sparse eyebrow,... |
OMIM:167730 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
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Craniosynostosis, Micrognathia, Cleft palate, Thin ribs, Slender long bone, Decreased calvarial o... |
OMIM:618265 |
Seckel Syndrome 5 |
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11 pairs of ribs, Pes planus, Selective tooth agenesis, Prominent nasal bridge, Micrognathia, Cle... |
OMIM:613823 |
Brachydactyly-Nystagmus-Cerebellar Ataxia |
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Short metacarpal, Short metatarsal, Brachydactyly |
OMIM:113400 |
Diaphanospondylodysostosis |
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Respiratory distress, Missing ribs, Short neck, Myelomeningocele, Short thorax, Cleft palate, Nar... |
ORPHA:66637 |
Pseudohypoparathyroidism Type 1C |
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Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79444 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
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Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
Kagami-Ogata Syndrome |
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Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Atrial septal defect, Anteverted na... |
OMIM:608149 |
Tarp Syndrome |
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Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Atrial septal defect, N... |
OMIM:311900 |
Trisomy 9P |
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Sacral dimple, Dental crowding, Bilateral single transverse palmar creases, Short neck, Abnormal ... |
ORPHA:236 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
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Finger syndactyly, Abnormal dental enamel morphology, Joint stiffness, Prominent nose, Kyphosis, ... |
ORPHA:1005 |
Edinburgh Malformation Syndrome |
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Anteverted nares, Choanal atresia, Micrognathia, Joint stiffness, Long fingers, Ulnar deviation o... |
ORPHA:1895 |
Temple Syndrome |
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Wide nose, Anteverted nares, Depressed nasal bridge, Micrognathia, Flexion contracture, Small han... |
OMIM:616222 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
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Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Kyphosis, Short toe, Delayed skele... |
ORPHA:3085 |
White Forelock With Malformations |
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Finger syndactyly, Deep philtrum, Abnormal rib morphology, Joint hyperflexibility, Clinodactyly o... |
ORPHA:2475 |
Exudative Vitreoretinopathy 6 |
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Retinal detachment, Cataract, Patchy atrophy of the retinal pigment epithelium, Chorioretinal atr... |
OMIM:616468 |
Image Syndrome |
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Metaphyseal dysplasia, Depressed nasal bridge, Micromelia |
ORPHA:85173 |
Blount Disease |
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Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... |
ORPHA:2768 |
Bardet-Biedl Syndrome 16 |
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Respiratory distress, Recurrent respiratory infections, External genital hypoplasia, Bronchioliti... |
OMIM:615993 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
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Narrow nasal bridge, Edema of the dorsum of feet, Tapered finger, Flexion contracture, Hyperexten... |
ORPHA:544503 |
Calvarial Doughnut Lesions With Bone Fragility |
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Osteopenia, Recurrent fractures, Carious teeth, Osteoporosis, Femoral bowing, Platyspondyly, Scol... |
OMIM:126550 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
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Decreased palmar creases, Micrognathia, Deep philtrum, Brachycephaly, Short philtrum, Clinodactyl... |
OMIM:615834 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
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Neuropathic spinal arthropathy, Dental crowding, Depressed nasal bridge, Kyphoscoliosis, Deep phi... |
ORPHA:397709 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
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Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Deformed rib cage, Femoral bowing... |
OMIM:264700 |
Prader-Willi Syndrome Due To Translocation |
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Respiratory distress, Flat occiput, External genital hypoplasia, Micrognathia, Prominent nose, Sh... |
ORPHA:177907 |
Exfoliation Syndrome |
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Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
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Hyperlordosis, Short neck, Short thorax, Abnormal form of the vertebral bodies, Abnormal femoral ... |
ORPHA:3218 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
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Micrognathia, Deep philtrum, Brachycephaly, Downturned corners of mouth, Bifid uvula, Anteverted ... |
ORPHA:404440 |
Proximal Symphalangism |
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Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Metacarpophalangeal... |
ORPHA:3250 |
Osteogenesis Imperfecta, Type Xvii |
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Joint laxity, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Dentinogenesis imperfecta, Hip ... |
OMIM:616507 |
Aspartylglucosaminuria |
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Mandibular prognathia, Pes planus, Abnormal morphology of ulna, Abnormality of the dentition, Car... |
ORPHA:93 |
Banki Syndrome |
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Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo... |
ORPHA:1228 |
Osteogenesis Imperfecta, Type Xxi |
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Barrel-shaped chest, Pes planus, Recurrent fractures, Coxa valga, Bowing of the legs, Pectus exca... |
OMIM:619131 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
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Thin upper lip vermilion, Tented upper lip vermilion, Broad nasal tip, Wide nasal bridge, Shorten... |
OMIM:615716 |
20Q11.2 Microduplication Syndrome |
|
Bifid scrotum, Pectus carinatum, Short palm, Clinodactyly of the 5th finger, Abnormal nasal bridg... |
ORPHA:363659 |
Trigonocephaly 1 |
|
Omphalocele, Epicanthus, Craniosynostosis, Synophrys, Long penis, Wide nasal bridge, Upslanted pa... |
OMIM:190440 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
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Lateral clavicle hook, Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of the ... |
OMIM:615630 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Brachydactyly, Polydactyly, Abnormality of the dentition |
OMIM:615982 |
Peters-Plus Syndrome |
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Hypoplasia of the vagina, Short lingual frenulum, Single transverse palmar crease, Proximal place... |
OMIM:261540 |
Mosaic Trisomy 16 |
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Single transverse palmar crease, Abnormal lung morphology, Anteriorly placed anus, Atrial septal ... |
ORPHA:1708 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Short palm, Pes planus, Dental crowding, Abnormality of the hand, Abnormality of the dentition, U... |
ORPHA:476126 |
Marinesco-Sjogren Syndrome |
|
Short metacarpal, Hypergonadotropic hypogonadism, Coxa valga, Kyphosis, Flexion contracture, Shor... |
OMIM:248800 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Depressed nasal bridge, Choanal atresia, Missing ribs, Short neck, Esophageal a... |
OMIM:619859 |
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome |
|
Short thumb, Osteoarthritis, Brachydactyly |
ORPHA:435804 |
Mosaic Trisomy 8 |
|
Micrognathia, Short neck, Protruding ear, Deeply set eye, Vertebral segmentation defect, High pal... |
ORPHA:96061 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Recurrent fractures, Vertebra... |
OMIM:610967 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Pro... |
ORPHA:235 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
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Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, A... |
OMIM:619797 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Bruck Syndrome 2 |
|
Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Femoral bow... |
OMIM:609220 |
Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ... |
ORPHA:1113 |
Rin2 Syndrome |
|
Irregular dentition, Pes planus, Gingival overgrowth, Increased susceptibility to fractures, Abno... |
ORPHA:217335 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e... |
ORPHA:1473 |
Autosomal Dominant Robinow Syndrome |
|
Hypoplasia of penis, Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormality of th... |
ORPHA:3107 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Micrognathia, Diastema, Short neck, Underdeveloped nasal alae, Dental malocclusion, Broad columel... |
ORPHA:436245 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Broad hallux phalanx, Frontal bossing, Toe syndactyly, Turricephaly, Hyper... |
ORPHA:1540 |
Arthrogryposis, Distal, Type 5D |
|
Congenital hip dislocation, Limited elbow movement, Micrognathia, Short neck, Calcaneovalgus defo... |
OMIM:615065 |
Feingold Syndrome |
|
Hallux valgus, Brachydactyly, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Micrognat... |
ORPHA:1305 |
Waardenburg Syndrome Type 1 |
|
Mandibular prognathia, Telecanthus, White eyelashes, White eyebrow, Lacrimation abnormality, Unde... |
ORPHA:894 |
Doors Syndrome |
|
Respiratory distress, Short lingual frenulum, Abnormal finger morphology, Brachycephaly, Hemivert... |
ORPHA:79500 |
Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Femoral bowing, Scoliosis |
OMIM:615066 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Multiple rib fractures, Crumpled long bones, Death in infancy, Rhizomelia, Protrusio ... |
OMIM:610682 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Congenital hip dislocation, Short neck, Accelerated s... |
ORPHA:373 |
Myhre Syndrome |
|
Mandibular prognathia, External genital hypoplasia, Hypoplasia of the maxilla, Epispadias, Short ... |
ORPHA:2588 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Depressed nasal bridge, Choanal atresia, Wide anterior fontan... |
OMIM:207410 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Joint dislocation, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toe... |
ORPHA:3201 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects |
|
Microretrognathia, Joint dislocation, Joint laxity, Prominent nose, Bulbous nose, Wide nasal brid... |
OMIM:606220 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... |
ORPHA:3003 |
Progressive Osseous Heteroplasia |
|
Osteoarthritis, Limitation of joint mobility, Ectopic ossification in muscle tissue, Brachydactyly |
ORPHA:2762 |
Linear Verrucous Nevus Syndrome |
|
Short metacarpal, Toe syndactyly, Genu recurvatum, Reduced bone mineral density, Scoliosis |
ORPHA:2611 |
De Sanctis-Cacchione Syndrome |
|
Entropion, Bilateral cryptorchidism, Gonadal hypoplasia, Conjunctivitis, Bilateral coxa valga, Ec... |
OMIM:278800 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Depressed nasal ridge, Brachycephaly, Deeply set eye, Clinodactyly of the 5t... |
ORPHA:1606 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Wide nose, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... |
OMIM:300845 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Short fourth metatarsal, Anteverted nares, Short neck, Depressed nasal ridge, Gingival overgrowth... |
ORPHA:464288 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, Short palm, Short phalanx of ... |
OMIM:249420 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Micromelia, Prominent nose, Abnormal cerebral vascular morphology, Coxa vara, Hypoplastic iliac w... |
ORPHA:2637 |
Ulnar-Mammary Syndrome |
|
Abnormal morphology of the radius, Abnormal clavicle morphology, Camptodactyly of finger, Abnorma... |
ORPHA:3138 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... |
OMIM:120200 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Epicanthus, Broad nasal tip, Precocious puberty, Cryptorchidism, Synophrys, 2-3 toe syndactyly, G... |
ORPHA:3306 |
Developmental And Epileptic Encephalopathy 95 |
|
Joint laxity, Short fourth metatarsal, Brachydactyly, Multiple joint contractures, Single transve... |
OMIM:618143 |
Alg6-Cdg |
|
Shortening of all distal phalanges of the fingers, Macroglossia, Protein-losing enteropathy, Scol... |
ORPHA:79320 |
Smith-Kingsmore Syndrome |
|
Thin upper lip vermilion, Rhizomelia, Depressed nasal bridge, Thoracic hypoplasia, Short proximal... |
OMIM:616638 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Telecanthus, Micromelia, Male pseudohermaphroditism, Increase... |
ORPHA:1422 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Microretrognathia, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Abnormality of the... |
ORPHA:2994 |
Hypophosphatasia |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormality of the dentition, Ab... |
ORPHA:436 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Bicuspid aortic valve, Single transverse palmar crease, Proximal placement of thumb, Limited elbo... |
OMIM:610759 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Hypoplasia of the nasal bone, Knee flexion contracture, Epiphyseal stippling, Ta... |
OMIM:118650 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Death in early adulthood, Hypoplastic scapulae, Femoral retroversion, Micromelia, Kyphosis, Orofa... |
ORPHA:79107 |
Floating-Harbor Syndrome |
|
Enlarged joints, Short neck, Hypoplasia of the maxilla, Long nose, Deeply set eye, Humeral pseuda... |
ORPHA:2044 |
Endocrine-Cerebroosteodysplasia |
|
Small scrotum, Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, T... |
OMIM:612651 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Micrognathia, Prominent nose, Lo... |
ORPHA:2636 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, High, narrow palate,... |
ORPHA:957 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Thin upper lip vermilion, Anteverted nares, Single transverse palmar crease, Depressed nasal brid... |
OMIM:613443 |
Al-Raqad Syndrome |
|
Joint laxity, Thin upper lip vermilion, Sandal gap, Narrow mouth, Short nose, Brachydactyly |
OMIM:616459 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Dextrocardia, M... |
ORPHA:2257 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contractures, Single trans... |
ORPHA:536471 |
Nievergelt Syndrome |
|
Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal... |
OMIM:163400 |
Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the... |
ORPHA:193 |
X-Linked Hypophosphatemia |
|
Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,... |
ORPHA:89936 |
Crane-Heise Syndrome |
|
Finger syndactyly, Abnormally ossified vertebrae, Toe syndactyly, Hypoplastic scapulae, Anteverte... |
ORPHA:1512 |
Baller-Gerold Syndrome |
|
Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Prominent nasal b... |
ORPHA:1225 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Joint dislocation, Hyperparathyroidism, Coarse metaphyseal trabecularization, Osteomalacia, Recur... |
ORPHA:93160 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hyperextensibility of the finger joints, Dental crowding, Micrognathia, Hypoplasia of the maxilla... |
OMIM:309520 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Short neck, Abnormal form of the vertebral bodies,... |
ORPHA:233 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Prominent nasal bridge, Precocious puberty, Short toe, Obesity, Cone-shaped epiphyses... |
OMIM:619269 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Intellectual Developmental Disorder, X-Linked 9 |
|
Macrotia, Short distal phalanx of finger |
OMIM:309549 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Short metatarsal, Type E brachydactyly, Short 4th metacarpal |
OMIM:113301 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Limitation of joint mobility, Upper limb undergrowth, Short foot, Concave nasal ridge, Toe clinod... |
ORPHA:166277 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of the hand, Abnormality of the dentition, Supernumerary tooth, Oligodontia, Short 5t... |
ORPHA:1264 |
Mucopolysaccharidosis, Type X |
|
Spatulate ribs, Hyperlordosis, Diastema, Open bite, Broad clavicles, Wide nasal bridge, Genu valg... |
OMIM:619698 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Protruding e... |
OMIM:300534 |
Halperin-Birk Syndrome |
|
Micrognathia, Flexion contracture, Hip dislocation, Aspiration, Perimembranous ventricular septal... |
OMIM:618651 |
Chromosome 16P13.3 Duplication Syndrome |
|
Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Short neck, Tracheobroncho... |
OMIM:613458 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Micrognathia, Microcephaly, Cryptorchidism, Postaxial hand polydactyly, Non-midline ... |
ORPHA:2075 |
Gm1-Gangliosidosis, Type Ii |
|
Protruding tongue, Coxa valga, Joint stiffness, Thoracolumbar kyphosis, Gingival overgrowth, Hypo... |
OMIM:230600 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, External genital hypoplasia, High, narrow palate, Epispadias, Abnormal fin... |
ORPHA:2658 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Proximal placement of thumb, Abnormal lung lobation, Vertebral segmentatio... |
ORPHA:1120 |
Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the to... |
ORPHA:989 |
Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Thin upper lip vermilion, Death in infancy, Neonatal respiratory distress, ... |
OMIM:615042 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger ... |
DECIPHER:46 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Hypoplasia of the maxilla, Flexion contracture, Hyperextensibility at wrists, Pectus carinatum, P... |
ORPHA:481152 |
Exudative Vitreoretinopathy 4 |
|
Peripheral retinal avascularization, Posterior vitreous detachment, Vitreous hemorrhage, Exudativ... |
OMIM:601813 |
Chromosome 16Q22 Deletion Syndrome |
|
Frontal bossing, Prominent metopic ridge, Broad hallux, Single transverse palmar crease, Depresse... |
OMIM:614541 |
Leukoencephalopathy With Vanishing White Matter 2 |
|
Cataract, Optic atrophy |
OMIM:620312 |
Synostoses, Tarsal, Carpal, And Digital |
|
Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... |
OMIM:186400 |
Teebi Hypertelorism Syndrome 1 |
|
Omphalocele, Natal tooth, Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, Microg... |
OMIM:145420 |
49,Xxxxy Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Small scrotum, Short neck, Pulmonary embolism, Depres... |
ORPHA:96264 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Patellar hypoplasia, Hypothyroidism, Short phalanx of finger, Genu varum, Short metac... |
ORPHA:221008 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Mandibular prognathia, Micrognathia, Prominent nose, Hemivertebrae, Depressed nasal ridge, Downtu... |
OMIM:156200 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Limb undergrowth, Abnormal metaphysis morphology, Depressed nasal ridge, Narrow chest |
ORPHA:1861 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Abnormal lung lobation, Brachycephal... |
OMIM:265380 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Tapered finger, Micrognathia, Short neck, Wide nasal bridge, Narrow palate, Hypoplasia of teeth, ... |
OMIM:620250 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Mandibular prognathia, Osteopenia, Chronic gastritis, Bicuspid aortic valve, Single transverse pa... |
OMIM:150230 |
Coloboma Of Macula And Skeletal Anomalies |
|
Hallux valgus, Coxa valga, Cleft palate, Contracture of the distal interphalangeal joint of the 5... |
OMIM:216800 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Small scrotum, Short neck, Pulmonary embolism, Depres... |
ORPHA:96263 |
Ohdo Syndrome |
|
Joint laxity, Epicanthus, Small scrotum, Anteverted nares, Depressed nasal bridge, Blepharophimos... |
OMIM:249620 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Flat occiput, Short neck, Flexion contracture, Brachycephaly, Protruding ear, High palate, Atrial... |
OMIM:617452 |
Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Intestinal malro... |
ORPHA:93259 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, Micrognathia, Broad nasal tip, 2-3 toe syndactyly, Cleft palate, Small thenar em... |
OMIM:239800 |
Cleft Palate-Large Ears-Small Head Syndrome |
|
Micrognathia, Pectus excavatum, Gingival overgrowth, Cleft palate, Ulnar deviation of finger, Sho... |
ORPHA:2013 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, Barrel-shaped chest,... |
OMIM:226980 |
Meckel Syndrome, Type 9 |
|
Limb undergrowth, Occipital encephalocele, Talipes equinovarus |
OMIM:614209 |
Floating-Harbor Syndrome |
|
Prominent nose, Short middle phalanx of the 2nd finger, Short neck, Glandular hypospadias, Downtu... |
OMIM:136140 |
8Q24.3 Microdeletion Syndrome |
|
Thoracic scoliosis, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Shor... |
ORPHA:508488 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Co... |
ORPHA:2334 |
Keipert Syndrome |
|
Broad hallux phalanx, Tented upper lip vermilion, Depressed nasal bridge, Prominent nasal bridge,... |
ORPHA:2662 |
Orofaciodigital Syndrome Type 5 |
|
High, narrow palate, Bifid uvula, Cleft soft palate, Accessory oral frenulum, Hypertelorism, Supe... |
ORPHA:2919 |
Mucolipidosis Iii Gamma |
|
Abnormality of the hand, Joint stiffness, Flat capital femoral epiphysis, Short neck, Hyperlordos... |
OMIM:252605 |
Non-Distal Duplication 13Q |
|
Arachnodactyly, Abnormality of the dentition, Micrognathia, Postaxial hand polydactyly, Thin verm... |
ORPHA:1702 |
49,Xyyyy Syndrome |
|
External genital hypoplasia, Abnormality of the testis size, Micrognathia, Generalized joint laxi... |
ORPHA:99330 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Syndactyly, Epicanthus, Depressed nasal bridge, Abnormality of the hand, S... |
ORPHA:369891 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Prominent nose, Brachycephaly, Hypotelorism, Atrial septal defect, Bifid uv... |
OMIM:300968 |
Heart-Hand Syndrome, Slovenian Type |
|
Abnormal foot morphology, Brachydactyly |
ORPHA:168796 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Apnea, Micrognathia, Proximal femoral metaphyseal irregularity, Tachypne... |
ORPHA:397715 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Toe syndactyly, Micrognathia, Split hand, Cleft palate, Split foot |
OMIM:183700 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Short neck, Broad nasal tip, Small hand, Abnormal rib morphology, Broad columella, De... |
ORPHA:488434 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Wormian bones... |
OMIM:608612 |
Rapadilino Syndrome |
|
Slender nose, Absent thumb, Aplasia/Hypoplasia of the patella, High, narrow palate, Cleft palate,... |
OMIM:266280 |
Hirschsprung Disease-Type D Brachydactyly Syndrome |
|
Short phalanx of hallux, Short distal phalanx of the thumb, Aganglionic megacolon, Brachydactyly |
ORPHA:2150 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Proximal placement of thumb, Micrognathia, Deep philtrum, Conductive hearin... |
OMIM:610536 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Mandibular prognathia, Single transverse palmar crease, Broad nasal tip, Clinodactyly, Flexion co... |
ORPHA:391372 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Depressed nasal bridge, Postaxial polydactyly, Lateral clavicle hook, Preaxial polyda... |
OMIM:615503 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Ventricular septal defect, Hearing impairment, Hypertelorism, Hypoplasia of the maxill... |
OMIM:614261 |
Myopia 17, Autosomal Dominant |
|
Retinal hole, Presenile cataracts |
OMIM:608367 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Single transverse palmar crease, Brachycephaly, Conotruncal defect, Microp... |
OMIM:610253 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Pseudohypoparathyroidism Type 1A |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79443 |
Neu-Laxova Syndrome |
|
Osteopenia, External genital hypoplasia, Micromelia, Micrognathia, Flexion contracture, Depressed... |
ORPHA:2671 |
Bartsocas-Papas Syndrome |
|
Finger syndactyly, Median cleft lip, Toe syndactyly, Talipes, Aplasia/Hypoplasia of the distal ph... |
ORPHA:1234 |
Craniofrontonasal Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Sprengel anomaly, Clinodactyly of the 5th finger, Jo... |
OMIM:304110 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Bent Bone Dysplasia Syndrome 1 |
|
Bent long bone, Natal tooth, Micrognathia, Hypertelorism, Hypoplastic pubic bone, Gingival overgr... |
OMIM:614592 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Optic disc pallor, Chorioretin... |
OMIM:251270 |
Cole-Carpenter Syndrome 1 |
|
Osteopenia, Recurrent fractures, Micrognathia, Coronal craniosynostosis, Reduced bone mineral den... |
OMIM:112240 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Mandibular prog... |
OMIM:231070 |
Distal Deletion 10P |
|
Hypoplasia of penis, Micrognathia, Short neck, Clinodactyly of the 5th finger, Bilateral single t... |
ORPHA:1580 |
Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
Stickler Syndrome, Type V |
|
Retinal detachment, Cataract, Vitreoretinopathy |
OMIM:614284 |
Macs Syndrome |
|
Joint laxity, Epicanthus, Hypergonadotropic hypogonadism, Single transverse palmar crease, Palpeb... |
OMIM:613075 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Stiff neck, Micrognathia, Short neck, Narrow palate, Femoral bowing, Macroglo... |
OMIM:617022 |
Lowry-Wood Syndrome |
|
Prominent nose, Squared iliac bones, Hip dislocation, Limited elbow extension, Elbow flexion cont... |
OMIM:226960 |
Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
Nablus Mask-Like Facial Syndrome |
|
Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, Micropenis, Anteverted na... |
OMIM:608156 |
Czech Dysplasia |
|
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac... |
OMIM:609162 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract |
OMIM:616722 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Metaphyseal dysplasia, Short metacarpal, Frontal bossing, Ventricular septal defect, Craniosynost... |
OMIM:250410 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Synophrys, Flexion contracture, Clinodactyly of the 5th finger, Joint laxity, Hypospadias, Anteve... |
OMIM:619293 |
Harel-Yoon Syndrome |
|
Mandibular prognathia, Micrognathia, Talipes equinovalgus, Pectus carinatum, Hip dysplasia, Scoli... |
OMIM:617183 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Kyphoscoliosis, Hypopla... |
OMIM:615349 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Anteverted nares, Short neck, Elbow dis... |
OMIM:264180 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, High, narrow ... |
ORPHA:2554 |
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome |
|
Arachnodactyly, Micrognathia, Long nose, Cone-shaped epiphysis, Joint hyperflexibility, Palmoplan... |
ORPHA:2824 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Tapered finger, Thick low... |
OMIM:619854 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Thin upper lip vermilion, Tented upper lip vermilion, Sandal gap, Depressed nasal bridge, Tapered... |
OMIM:618430 |
16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Unilateral ptosis, Epicanthus, Thick eyebrow, Failure to thrive, Decreased respons... |
ORPHA:485405 |
Glutamine Deficiency, Congenital |
|
Anteverted nares, Depressed nasal bridge, Micromelia, Flexion contracture, Wide nasal bridge, Thi... |
OMIM:610015 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Dental crowding, Long nose, Downturned corners of mouth, High palate, Clinodactyly of the 5th fin... |
OMIM:617602 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Hypoplasia of penis, Hypogonadotropic hypogonadism, Prominent nasal br... |
ORPHA:3068 |
Waardenburg Syndrome, Type 3 |
|
Mandibular prognathia, Scapular winging, Aganglionic megacolon, Camptodactyly of finger, Prominen... |
OMIM:148820 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Epicanthus, Hypospadias, Depressed nasal bridge, Cryptorchidism, Polydactyly, Short nose, Hypopla... |
OMIM:616910 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Arachnodactyly, Micrognathia, Shallow orbits, Short nose, Downslanted palpebral fissures, Delayed... |
ORPHA:1129 |
Schwartz-Jampel Syndrome |
|
Apnea, Micromelia, Micrognathia, Short neck, Coxa vara, Pectus carinatum, High palate, Wrist flex... |
ORPHA:800 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Overlapping toe, Short neck, Pectus excavatum, Cleft lip, Deep philtrum, Bulbo... |
OMIM:618571 |
Chitayat Syndrome |
|
Hallux valgus, Anteverted nares, Depressed nasal bridge, Pectus excavatum, Short columella, Thick... |
OMIM:617180 |
Carey-Fineman-Ziter Syndrome |
|
Anteverted nares, Aplasia/Hypoplasia of the tongue, Micrognathia, Pierre-Robin sequence, Aplasia ... |
ORPHA:1358 |
Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Femur fracture, Delayed eruption of primary teeth, Micrognat... |
OMIM:619322 |
Specific Granule Deficiency 2 |
|
Osteopenia, Death in infancy, Brachydactyly, Sandal gap, Conical tooth, Death in childhood, Tooth... |
OMIM:617475 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Joint stiffness, Micrognathia, Microcephaly, Cryptorchidism, Cleft pal... |
ORPHA:1166 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Patellar hypoplasia, Protruding ear, Congenital contracture, Widely spaced teeth, Atrial septal d... |
ORPHA:261279 |
Perlman Syndrome |
|
Ptosis, Hypoplasia of penis, Inguinal hernia, Femoral hernia, Epicanthus, Anteverted nares, Micro... |
ORPHA:2849 |
Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor... |
OMIM:259450 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Depressed nasal bridge, Coxa valga, Microgna... |
OMIM:619833 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... |
OMIM:212550 |
Miller-Dieker Lissencephaly Syndrome |
|
Single transverse palmar crease, Micrognathia, Clinodactyly of the 5th finger, Pachygyria, Thick ... |
OMIM:247200 |
Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Cleft ala nasi, Osteopathia striata, Short metatarsal, Anteriorly pla... |
OMIM:305600 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Carious teeth, Thin clavicles, Small hand, Th... |
ORPHA:93324 |
Morm Syndrome |
|
Cataract, Retinal dystrophy, Retinal atrophy |
ORPHA:75858 |
Coxoauricular Syndrome |
|
Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe... |
ORPHA:1508 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Slender nose, Micrognathia, Cryptorchidism, Pectus carinatum, Scoliosis, Joint contracture, Short... |
OMIM:615419 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Joint laxity, Dental crowding, Arachnodactyly, Narrow mouth, High palate, Bilateral talipes equin... |
OMIM:615539 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Microretrognathia, Abnormal clavicle morphology, Abnormality of the philtrum, Hypospadias, Abnorm... |
ORPHA:276422 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Coffin-Siris Syndrome 7 |
|
Thin upper lip vermilion, Wide nose, Anteverted nares, Depressed nasal bridge, Sagittal craniosyn... |
OMIM:618027 |
Short Stature, Dauber-Argente Type |
|
Delayed eruption of teeth, Long toe, Osteopenia, Arachnodactyly, Decreased fibular diameter, Long... |
OMIM:619489 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... |
OMIM:241530 |
Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Overlapping toe, Cleft palate, High palate, Scoliosis, Open mouth |
OMIM:620021 |
Sifrim-Hitz-Weiss Syndrome |
|
Anteriorly placed anus, Atrial septal defect, Micropenis, Bifid uvula, Hypogonadotropic hypogonad... |
OMIM:617159 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short metacarpal, Microcephaly, Abnormal cartilage matrix, Epiphyseal stippling, Lissencephaly, T... |
ORPHA:86822 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Elbow contracture, Ulnar deviation of the wrist, Allergic rhinitis, Pectus excavatum,... |
OMIM:618162 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Craniofaciofrontodigital Syndrome |
|
Osteopenia, Respiratory distress, Bicuspid aortic valve, Abnormal cerebral vascular morphology, C... |
ORPHA:363705 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Coxa vara, Clinodactyly of the 5th finger, Arachnodactyly, Prematurely aged... |
ORPHA:3342 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, High palate, Prominent finger... |
OMIM:300558 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee... |
OMIM:151050 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Protein-losing entero... |
OMIM:235510 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Joint laxity, Syndactyly, Depressed nasal bridge, Ventricular septal defect, Cutis marmorata, Hyp... |
OMIM:602501 |
Brachyolmia Type 3 |
|
Barrel-shaped chest, Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondy... |
OMIM:113500 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thin upper lip vermilion, Thoracolumbar scoliosis, Micrognathia, Underdeveloped nasal alae, Micro... |
OMIM:616549 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Small hypothenar eminence, Wide nose, Arachnodactyly, Joint hypermobility, Thenar mus... |
ORPHA:2463 |
Coffin-Siris Syndrome 3 |
|
Joint laxity, Wide nose, Anteverted nares, Depressed nasal bridge, Short distal phalanx of the 5t... |
OMIM:614608 |
Rudiger Syndrome |
|
Death in infancy, Depressed nasal bridge, Single transverse palmar crease, Flexion contracture, H... |
OMIM:268650 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Rod-cone dystrophy, Cataract |
OMIM:619082 |
Alg9-Cdg |
|
Short neck, Micrognathia, Narrow greater sciatic notch, Shallow orbits, Abnormal bone ossificatio... |
ORPHA:79328 |
Orofaciodigital Syndrome Type 4 |
|
Joint dislocation, Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate... |
ORPHA:2753 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Intestinal malrotation, Genu valgum, Wide mouth, Joint hypermobility, Duodenal atresia |
OMIM:617798 |
3Mc Syndrome 2 |
|
Limited elbow movement, Downturned corners of mouth, High palate, Abnormal vertebral morphology, ... |
OMIM:265050 |
Mal De Meleda |
|
Congenital symmetrical palmoplantar keratosis, Brachydactyly |
OMIM:248300 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Convex nasal ridge, Micromelia, Micrognathia, Cervical k... |
ORPHA:666 |
Holoprosencephaly |
|
Hypoplasia of penis, Flat occiput, Short neck, Deep philtrum, Depressed nasal ridge, Abnormal for... |
ORPHA:2162 |
Orofaciodigital Syndrome Type 6 |
|
Apnea, Episodic tachypnea, Micrognathia, Bilateral cryptorchidism, Preaxial polydactyly, Finger c... |
ORPHA:2754 |
Treacher-Collins Syndrome |
|
Hypoplasia of penis, Small scrotum, Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Gloss... |
ORPHA:861 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... |
OMIM:618728 |
Satoyoshi Syndrome |
|
Pes planus, Short metacarpal, Malabsorption, Short metatarsal, Osteolytic defects of the phalange... |
OMIM:600705 |
Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Long nose, Brachycephaly, Partial duplication of the distal phalanx of... |
OMIM:101400 |
Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, Brachycephaly,... |
OMIM:234100 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Braddock-Carey Syndrome 1 |
|
Anteverted nares, Hyperlordosis, Clinodactyly, Pierre-Robin sequence, Small hand, Wide nasal brid... |
OMIM:619980 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Mandibular prognathia, Kyphosis, Synophrys, Truncal obesity, Scoliosis, Short nose, Thick eyebrow |
ORPHA:2429 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Bone pain, Deformed rib cag... |
ORPHA:289157 |
Geleophysic Dysplasia 2 |
|
Thin upper lip vermilion, Ovoid vertebral bodies, Joint stiffness, Limitation of joint mobility, ... |
OMIM:614185 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Viss Syndrome |
|
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Prominent superficial blood v... |
OMIM:619472 |
Stickler Syndrome, Type Ii |
|
Arachnodactyly, Anteverted nares, Depressed nasal bridge, Micrognathia, High, narrow palate, Long... |
OMIM:604841 |
Deafness, Autosomal Dominant 9 |
|
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Micromelia, Micrognathia, Short neck, Hemivertebrae, Abnormal lung lobation,... |
ORPHA:99776 |
3Q29 Microdeletion Syndrome |
|
Dental crowding, Prominent nasal bridge, Abnormality of the dentition, Tapered finger, Pectus exc... |
ORPHA:65286 |
Trisomy 1Q |
|
Small scrotum, Hypotelorism, Microretrognathia, Arachnodactyly, Depressed nasal bridge, Hypertelo... |
ORPHA:261344 |
Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Bilateral single transverse palmar creases, Micromelia, Short neck, Long philtr... |
ORPHA:50810 |
Marden-Walker Syndrome |
|
Micrognathia, Short neck, High, narrow palate, Abnormal sternum morphology, Congenital contractur... |
OMIM:248700 |
Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con... |
OMIM:617304 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Micrognathia, Short neck, Abnormal lung lobatio... |
ORPHA:818 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
7Q31 Microdeletion Syndrome |
|
Prominent nose, Hypoplasia of the maxilla, Hypoplasia of the semicircular canal, Atrial septal de... |
ORPHA:251061 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, ... |
OMIM:619148 |
Alagille Syndrome 1 |
|
Long nose, Hemivertebrae, Deeply set eye, Atrial septal defect, Hypoplasia of the ulna, Depressed... |
OMIM:118450 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Bicuspid aortic valve, Micrognathia, Cardiomegaly, Short neck, Accelerated skeletal m... |
OMIM:245600 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Osteopenia, Genu recurvatum, Single transverse palmar crease, Micrognathia, Flexion contracture, ... |
OMIM:130070 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Bilateral single transverse palmar creases, Joint stiffness, Micrognathia, High, narrow palate, S... |
ORPHA:2516 |
Abruzzo-Erickson Syndrome |
|
Radioulnar synostosis, Cleft palate |
OMIM:302905 |
Isolated Aniridia |
|
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly |
ORPHA:250923 |
Oculodentodigital Dysplasia |
|
Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Microdontia, Prematur... |
OMIM:164200 |
Cartilage-Hair Hypoplasia |
|
Metaphyseal widening, Coxa vara, Femoral bowing, Narrow chest, Short palm, Joint laxity, Lumbar h... |
OMIM:250250 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Osteopenia, Thin upper lip vermilion, Depressed nasal bridge, Joint hypermobility, Long nose, Pec... |
OMIM:618590 |
Trisomy 12P |
|
Micrognathia, Short neck, Wide nasal bridge, Cleft palate, Downturned corners of mouth, Large han... |
ORPHA:1699 |
Vater/Vacterl Association |
|
Occipital encephalocele, Abnormal nasopharynx morphology, Preaxial polydactyly, Abnormal sternum ... |
OMIM:192350 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Pectus carinatum, Genu valgum, Be... |
OMIM:255710 |
Intellectual Disability-Strabismus Syndrome |
|
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Short nec... |
ORPHA:363528 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Telecanthus, Wide nose, Abnormal eyelash morphology, Sparse eyebrow, Hypoplas... |
ORPHA:2399 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Hypo... |
ORPHA:3206 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short tibia, Short femur, Talipes equinovarus |
OMIM:620306 |
Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Limited elbow movement, Limited w... |
OMIM:617809 |
20P13 Microdeletion Syndrome |
|
Thin upper lip vermilion, Finger syndactyly, Tented upper lip vermilion, Prominent nasal bridge, ... |
ORPHA:313781 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Microretrognathia, Hip contracture, Joint laxity, Overlapping toe, Rocker bottom foot, Bilateral ... |
ORPHA:488642 |
Tetrasomy 18P |
|
Large hands, Thin vermilion border, Scoliosis, Narrow mouth, Short nose, Long philtrum |
ORPHA:3307 |
Geleophysic Dysplasia 1 |
|
Osteopenia, Anteverted nares, Camptodactyly of finger, Coxa valga, Joint stiffness, Pectus excava... |
OMIM:231050 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Micrognathia, Limitation of joint mobility, Symphalangism affecting the ... |
ORPHA:2547 |
Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Natal tooth, Hypoplastic ischia, Bowing of the legs, Micrognathia, Abnormality of the... |
ORPHA:313855 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Broad nasal tip, Hypoplasia of the maxilla, Abnormality of the dentition, Osteolysis, Proptosis, ... |
ORPHA:2776 |
Desmosterolosis |
|
Micromelia, Micrognathia, Pachygyria, Bifid uvula, Low-set, posteriorly rotated ears, Increased b... |
ORPHA:35107 |
Xp22.13P22.2 Duplication Syndrome |
|
Mandibular prognathia, Tapered finger, Pectus excavatum, Broad nasal tip, Microcephaly, Recurrent... |
ORPHA:284180 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Bifid scrotum, Micrognathia, Cutaneous finger syndactyly, Clinodactyly of the 5th finger, Hypospa... |
OMIM:613026 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Lowry-Maclean Syndrome |
|
Osteopenia, Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, High, narro... |
ORPHA:2409 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Attached earlobe, Short neck, Upper limb peromelia, Hypoplasia of the maxi... |
ORPHA:1299 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Clinodactyly, Brachydactyly |
OMIM:610023 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Ulnar deviation of the hand, Ankle swelling, Micrognathia, Wrist swelling, Hypoplasia... |
OMIM:166300 |
Nance-Horan Syndrome |
|
Mandibular prognathia, Short metacarpal, Prominent nasal bridge, Prominent nose, Abnormality of t... |
ORPHA:627 |
Cardiofaciocutaneous Syndrome |
|
Anteverted nares, Abnormal morphology of ulna, Depressed nasal bridge, Short neck, Pectus excavat... |
ORPHA:1340 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Long nose, Brachycephaly, Deeply set ey... |
OMIM:257850 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Gm1 Gangliosidosis |
|
Mandibular prognathia, Depressed nasal bridge, Camptodactyly of finger, Joint stiffness, Hyperlor... |
ORPHA:354 |
5Q14.3 Microdeletion Syndrome |
|
Toe syndactyly, Anteverted nares, Short philtrum, Open mouth, Short nose |
ORPHA:228384 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
Epiphyseal Dysplasia, Baumann Type |
|
Carpal bone aplasia, Epiphyseal dysplasia, Pes planus, Joint laxity, Hypoplasia of the femoral he... |
OMIM:610797 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
Rhyns Syndrome |
|
Osteopenia, Radial bowing, Osteoporosis, Short long bone, Short femoral neck, Brachydactyly |
OMIM:602152 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Joint laxity, Inguinal hernia, Epicanthus, Telecanthus, Delayed closure of the anteri... |
OMIM:225410 |
Distal Deletion 9P |
|
Short neck, Abnormality of the dentition, High, narrow palate, Wide nasal bridge, Cleft palate, E... |
ORPHA:1642 |
Zechi-Ceide Syndrome |
|
Mandibular prognathia, Wide nose, Sandal gap, Cleft lip, Short metatarsal, Wide nasal bridge, Cle... |
ORPHA:217017 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Arachnodactyly, Overlapping toe, Thoracolumbar scoliosis, Micrognathia, Metatarsus adductus, High... |
ORPHA:436003 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Sacral dimple, Epicanthus, Telecanthus, Depressed nasal bridge, Highly arched eyebrow, Prominent ... |
OMIM:618828 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Mandibular prognathia, Joint laxity, Lumbar hyperlordosis, Arachnodactyly, Prominent nasal bridge... |
ORPHA:457359 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Tibial bowing, Femoral bowing, Narrow chest, Neonatal death, Lumbar hyperlo... |
OMIM:616482 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormal foot morphology, Preaxial polydactyly, Scoliosis, Spi... |
ORPHA:64754 |
Down Syndrome |
|
Joint laxity, Aganglionic megacolon, Sandal gap, Bilateral single transverse palmar creases, Prot... |
ORPHA:870 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Single transvers... |
OMIM:309583 |
Larsen-Like Syndrome |
|
Joint laxity, Frontal bossing, Joint dislocation, Kyphoscoliosis, Hypertelorism, Wide anterior fo... |
OMIM:608545 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
Spermatogenic Failure 8 |
|
Azoospermia, Cryptozoospermia, Oligozoospermia |
OMIM:613957 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Bifid scrotum, Respiratory distress, Flat occiput, Anteriorly placed anus, Choanal stenosis, High... |
OMIM:123790 |
Acrofrontofacionasal Dysostosis 1 |
|
Mandibular prognathia, Short metacarpal, Mixed hearing impairment, Cleft upper lip, Pectus excava... |
OMIM:201180 |
Intellectual Disability, Buenos-Aires Type |
|
Mandibular prognathia, Abnormal dental morphology, Microcephaly, Open bite, Hypertelorism, Dental... |
ORPHA:3079 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Low-set, posteriorly rotated ears, Frontal bossing, Hypospadias, Micrognathia, Microcephaly, Cryp... |
ORPHA:98791 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Hyperextensibility of the finger joints, Flat occiput, Short neck, Brachycephaly, High palate, At... |
ORPHA:505237 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Mandibular prognathia, Micrognathia, Cryptorchidism, Pectus carinatum, Upslanted palpebral fissur... |
ORPHA:496790 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Mixed hearing impairment, Dental crowding, Hypertelorism, Metaphyseal wide... |
OMIM:123000 |
Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Relative macrocephaly, Syndactyly, Frontal bossing, Bifid scrotum, Hypospadias, Dysmenorrhea, Mic... |
ORPHA:397590 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Ventricular septal defect, Recurrent frac... |
ORPHA:2772 |
Spermatogenic Failure 81 |
|
Male infertility, Multiple non-erupting secondary teeth, Acrosomal hypoplasia, Oligozoospermia, R... |
OMIM:620277 |
Presynaptic Congenital Myasthenic Syndromes |
|
Microretrognathia, Joint laxity, Neuropathic spinal arthropathy, Congenital hip dislocation, Cyan... |
ORPHA:98914 |
Congenital Myasthenic Syndrome |
|
Microretrognathia, Joint laxity, Neuropathic spinal arthropathy, Congenital hip dislocation, Cyan... |
ORPHA:590 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... |
OMIM:618469 |
Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Intestinal malro... |
ORPHA:93260 |
Stickler Syndrome |
|
Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Depressed nasal ridge... |
ORPHA:828 |
Bainbridge-Ropers Syndrome |
|
Micrognathia, Synophrys, Contracture of the proximal interphalangeal joint of the 4th finger, Cho... |
OMIM:615485 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... |
OMIM:221900 |
Sweeney-Cox Syndrome |
|
Flat occiput, Uplifted earlobe, Micrognathia, Bilateral cryptorchidism, Brachycephaly, High palat... |
OMIM:617746 |
Sotos Syndrome |
|
Mandibular prognathia, Accelerated skeletal maturation, High, narrow palate, High palate, Otitis ... |
OMIM:117550 |
Toriello-Carey Syndrome |
|
Micrognathia, Short neck, Anteriorly placed anus, Anotia, High palate, Narrow chest, Thickened he... |
ORPHA:3338 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Craniosynostosis, Coxa valga, Hypoplastic vertebral bodies, Clinodactyly of the 5th finger, Short... |
ORPHA:2163 |
Frontonasal Dysplasia 2 |
|
Telecanthus, Aplasia of the nasal bone, Sparse eyelashes, Cleft ala nasi, Anteverted nares, Depre... |
OMIM:613451 |
Retinitis Pigmentosa 2 |
|
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... |
OMIM:312600 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Osteopenia, Prominent metopic ridge, Craniosynostosis, Underdeveloped nasal alae, Cryptorchidism,... |
ORPHA:453499 |
Noonan Syndrome 13 |
|
Micrognathia, Short neck, Enlarged thorax, High palate, Widely spaced teeth, Atrial septal defect... |
OMIM:619087 |
De Barsy Syndrome |
|
Osteopenia, Congenital hip dislocation, Generalized joint laxity, Brachycephaly, Coxa vara, Promi... |
ORPHA:2962 |
Tricuspid Atresia |
|
Cyanosis, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventricle, Coarcta... |
ORPHA:1209 |
Chromosome 10Q26 Deletion Syndrome |
|
Congenital hip dislocation, Small scrotum, Single transverse palmar crease, Micrognathia, Promine... |
OMIM:609625 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Death in infancy, Anteverted nares, Camptodactyly of finger, Depres... |
ORPHA:93473 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Long palm, Prominent nasal bridge, Pectus excavatum, Hypoplasia of the max... |
OMIM:300676 |
Baraitser-Winter Syndrome 1 |
|
Epicanthus, Failure to thrive, Anteverted nares, Highly arched eyebrow, Short neck, Cryptorchidis... |
OMIM:243310 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the thumb, Abnormality of the middle ear ossicles, Preaxial hand polydactyl... |
ORPHA:2549 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... |
OMIM:253200 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion... |
ORPHA:1145 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... |
OMIM:135100 |
Contractural Arachnodactyly, Congenital |
|
Osteopenia, Bicuspid aortic valve, Micrognathia, Short neck, Brachycephaly, Pectus carinatum, Kne... |
OMIM:121050 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Wide nasal bridge, Fused cervical vertebrae, Short middle phalanx of fin... |
OMIM:309620 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Abnormal dental morphology, Camptodactyly of finger, Micromelia, Malabsorption, Osteo... |
ORPHA:2176 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Syndactyly, Toe syndactyly, Anteverted nares, Congenital diaphragmatic hernia, Ameli... |
OMIM:601163 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Pulmonary artery atresia, Micropenis, Hypospadias, Hypertelorism, Cryptorchidism, Postaxial foot ... |
OMIM:301056 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
Emanuel Syndrome |
|
Congenital hip dislocation, Multiple joint contractures, Dental crowding, Micrognathia, Deeply se... |
ORPHA:96170 |
Sclerosteosis 1 |
|
Mandibular prognathia, Broad ribs, Sclerotic vertebral endplates, Cortically dense long tubular b... |
OMIM:269500 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Toe syndactyly, Short neck, Cryptorchidism, Platyspondyly, Cone-shaped epiphyses of the distal ph... |
OMIM:618958 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Micrognathia, Short neck, High, narrow palate, Ileus, Congenital contracture, High palate, Short ... |
OMIM:620156 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Short femur, Flexion contracture, Orofacial cleft, Polydactyly |
ORPHA:17 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Microretrognathia, Postaxial hand polydactyly, Long philtrum, Short nose, Abnormal palate morphology |
ORPHA:1389 |
Xylt1-Cdg |
|
Joint laxity, Pes planus, Coxa valga, Flared metaphysis, Cleft palate, Short long bone, Thick ver... |
ORPHA:370930 |
Asbestos Intoxication |
|
Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on exerti... |
ORPHA:2302 |
Developmental And Epileptic Encephalopathy 89 |
|
Microretrognathia, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Flexion co... |
OMIM:619124 |
Monosomy 9Q22.3 |
|
Short neck, Palmar pits, Accelerated skeletal maturation, Cardiac fibroma, Orofacial cleft, Long ... |
ORPHA:77301 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Microretrognathia, Hip contracture, Radial deviation of the hand, Anteverted nares, Rocker bottom... |
OMIM:301041 |
Thakker-Donnai Syndrome |
|
Anteverted nares, Ventricular septal defect, Posteriorly rotated ears, Short neck, Hypertelorism,... |
ORPHA:1780 |
Panner Disease |
|
Limited elbow movement, Abnormality of the humerus, Irregular articular surfaces of the elbow joi... |
ORPHA:97336 |
Cree Mental Retardation Syndrome |
|
Bifid scrotum, Aplasia/Hypoplasia of the ribs, Hypospadias, Rocker bottom foot, Cleft soft palate... |
OMIM:606851 |
Arboleda-Tham Syndrome |
|
Mandibular prognathia, Respiratory distress, Secundum atrial septal defect, Bilateral cryptorchid... |
OMIM:616268 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... |
OMIM:612572 |
Pseudodiastrophic Dysplasia |
|
Omphalocele, Rhizomelia, Phalangeal dislocation, Elbow dislocation, Platyspondyly, Talipes equino... |
ORPHA:85174 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Intellectual Developmental Disorder, Autosomal Recessive 78 |
|
Microretrognathia, Kyphoscoliosis, Pectus excavatum, High palate, Narrow chest, Clinodactyly of t... |
OMIM:620237 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Bifid scrotum, Hypoplasia of the maxilla, Bilateral cryptorchidism, Brachy... |
OMIM:211380 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Distal Monosomy 7Q36 |
|
Micrognathia, Short neck, Pectus excavatum, Non-midline cleft lip, Bulbous nose, Symphalangism af... |
ORPHA:1636 |
Crouzon Syndrome |
|
Mandibular prognathia, Sagittal craniosynostosis, Hypoplasia of the maxilla, Conjunctivitis, Lamb... |
OMIM:123500 |
Chromosome 18Q Deletion Syndrome |
|
Mandibular prognathia, Proximal placement of thumb, Prominent nose, Short neck, Downturned corner... |
OMIM:601808 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Micrognathia, Osteopetrosis, Shallow orbits, Clinodactyly of the ... |
OMIM:617306 |
Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly, Hypertelorism, Complete atrioventricular canal defect, Doubl... |
OMIM:217095 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Hutchinson-Gilford Progeria Syndrome |
|
Prominent superficial blood vessels, Dental crowding, Short lingual frenulum, Micrognathia, Osteo... |
ORPHA:740 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Micrognathia, Kyphosis, Scoliosis, Delayed puberty, Short nose, Distichiasis |
ORPHA:2598 |
Gracile Bone Dysplasia |
|
Death in infancy, Flared metaphysis, Thin ribs, Slender long bone, Decreased skull ossification, ... |
OMIM:602361 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Anteverted nares, Upper limb undergrowth, Thoracic hypoplasia |
OMIM:613124 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormality of the middle ear ossicl... |
OMIM:609166 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Bifid scrotum, Respiratory distress, Anteriorly placed anus, Thickened helices, Cloverleaf skull,... |
ORPHA:1555 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific... |
ORPHA:93360 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Metaphyseal dysplasia, Abnormal nasopharynx morphology, Mixed hearing impa... |
OMIM:218400 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Depressed nasal bridge,... |
ORPHA:2062 |
Hirschsprung Disease With Type D Brachydactyly |
|
Short thumb, Aganglionic megacolon, Type D brachydactyly |
OMIM:306980 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Kyphoscoliosis, Hip dislocation, Wide nasal bridge, High palate, Limb undergrowth, Jo... |
OMIM:618005 |
Auriculocondylar Syndrome |
|
Respiratory distress, Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, M... |
ORPHA:137888 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Neonatal death, Brachydactyly |
OMIM:610498 |
Van Esch-O'Driscoll Syndrome |
|
Sacral dimple, Hypogonadotropic hypogonadism, Depressed nasal bridge, Retrognathia, Upslanted pal... |
OMIM:301030 |
Diamond-Blackfan Anemia 1 |
|
Micrognathia, Short neck, Depressed nasal ridge, Hypoplastic coccygeal vertebrae, High palate, Na... |
OMIM:105650 |
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Micrognathia, Short neck, Calcaneovalgus deformity, Flexion contracture, Brachycephaly, High pala... |
ORPHA:562528 |
Pitt-Hopkins Syndrome |
|
Single transverse palmar crease, Short neck, Short metatarsal, Finger clinodactyly, Deeply set ey... |
ORPHA:2896 |
Mucolipidosis Iii Alpha/Beta |
|
Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregula... |
OMIM:252600 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Short neck, Micrognathia, Short metatarsal, Narrow chest, Clinodactyly of the 5th fin... |
OMIM:266920 |
Laurence-Moon Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Brachydactyly, Epicanthus, Cryptorchidism, Obesity, Hand ... |
ORPHA:2377 |
Greig Cephalopolysyndactyly Syndrome |
|
Accelerated skeletal maturation, Abnormal calvaria morphology, Camptodactyly of toe, Broad hallux... |
OMIM:175700 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni... |
OMIM:603194 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Intestinal polyposis, Depressed nasal bridge, Preaxial hand polydactyly, Foot polydactyly, Lympho... |
ORPHA:210548 |
Fg Syndrome Type 1 |
|
Dental crowding, Single transverse palmar crease, Micrognathia, Prominent nose, Generalized joint... |
ORPHA:93932 |
Cranioectodermal Dysplasia 2 |
|
Micrognathia, Short neck, Ectodermal dysplasia, Fused teeth, High palate, Narrow chest, Widely sp... |
OMIM:613610 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Thin upper lip vermilion, Anteverted nares, Broad nasal tip, Broad columella, Concave nasal ridge... |
OMIM:617763 |
Recombinant 8 Syndrome |
|
Small scrotum, Micrognathia, Downturned corners of mouth, Abnormal sternum morphology, Atrial sep... |
ORPHA:96167 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Thin upper lip vermilion, Everted upper lip vermilion, Micrognathia, Deep philtrum, Pierre-Robin ... |
OMIM:618381 |
Mucopolysaccharidosis, Type Ix |
|
Acetabular erosions, Depressed nasal bridge, Submucous cleft hard palate, Periarticular soft-tiss... |
OMIM:601492 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Short palm, Absent eyebrow, Depr... |
OMIM:268400 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Short neck, D... |
OMIM:618622 |
Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
Holzgreve Syndrome |
|
Hand polydactyly, Cleft palate, Cleft upper lip |
OMIM:236110 |
Fetal Hydantoin Syndrome |
|
Depressed nasal ridge, Cleft palate, Wide mouth, Everted lower lip vermilion, Triphalangeal thumb... |
ORPHA:1912 |
Grant Syndrome |
|
Micrognathia, Down-sloping shoulders, Tibial bowing |
OMIM:138930 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolo... |
OMIM:239300 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Prominent nose, Bilateral cryptorchidism, Pectus carinatum, Downturned corners of mouth, Deeply s... |
OMIM:617796 |
Cerebrofacioarticular Syndrome |
|
Osteopenia, Irregular dentition, Micrognathia, Hypoplasia of the maxilla, Anteriorly placed anus,... |
ORPHA:314679 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Micrognathia, Flexion contracture, Palmoplantar hyperkeratosis, Shallow orbits, Depre... |
OMIM:619127 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Short femur, Tapered finger |
OMIM:618367 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, Vertebral segmentation defect, Shallow orbits, Hypothyroidism, Joint laxity, Prominen... |
ORPHA:352665 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, Vertebral segmentation defect, Shallow orbits, Hypothyroidism, Joint laxity, Prominen... |
ORPHA:453504 |
Baker-Gordon Syndrome |
|
Joint laxity, Epicanthus, Scoliosis, Prominent nasal tip, Short nose |
OMIM:618218 |
Recon Progeroid Syndrome |
|
Joint laxity, Attached earlobe, Prominence of the premaxilla, Arachnodactyly, Anteverted nares, P... |
OMIM:620370 |
Meier-Gorlin Syndrome 3 |
|
Small scrotum, Micrognathia, Hypoplasia of the maxilla, Coxa vara, Patellar hypoplasia, Narrow ch... |
OMIM:613803 |
Monosomy 9P |
|
Proximal placement of thumb, Short neck, Congenital diaphragmatic hernia, Micrognathia, Synophrys... |
ORPHA:261112 |
Temtamy Syndrome |
|
Pes planus, Dental crowding, Micrognathia, Hip dislocation, Hypoplasia of teeth, Short 2nd toe, T... |
OMIM:218340 |
Satoyoshi Syndrome |
|
Abnormality of the knee, Tapered finger, Abnormality of the humerus, Abnormality of the wrist, Hy... |
ORPHA:3130 |
Hypertrichosis Cubiti |
|
Rhizomelia, Prominent nasal bridge, Micromelia, Abnormality of the elbow, Joint hyperflexibility |
ORPHA:2220 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Attached earlobe, Short neck, Deep philtrum, Knee flexion contracture, Microdontia, Hypertelorism... |
OMIM:619194 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Retinitis Pigmentosa 83 |
|
Bone spicule pigmentation of the retina, Vitreous floaters, Posterior subcapsular cataract, Aster... |
OMIM:618173 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Finger syndactyly, Toe syndactyly, Short hallux, Abnormality of the dentition, Abnormal nasal mor... |
ORPHA:3224 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Abnormal pala... |
ORPHA:1506 |
Crouzon Syndrome |
|
Frontal bossing, Turricephaly, Choanal atresia, Hypertelorism, Hypoplasia of the maxilla, Abnorma... |
ORPHA:207 |
Zimmermann-Laband Syndrome |
|
Hallux valgus, Pes planus, Wide nose, Micrognathia, Short neck, Supernumerary tooth, Bulbous nose... |
ORPHA:3473 |
Kabuki Syndrome 2 |
|
Micrognathia, Protruding ear, High palate, Atrial septal defect, Prominent fingertip pads, Atriov... |
OMIM:300867 |
Catifa Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Cleft lip, Cleft palate, Increased overbite, Long ph... |
OMIM:618761 |
White-Sutton Syndrome |
|
Mandibular prognathia, Micrognathia, Short neck, Brachycephaly, Downturned corners of mouth, Shor... |
OMIM:616364 |
6Q25 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Camptodactyly of finger, Rocker bot... |
ORPHA:251056 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... |
OMIM:605432 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract, Attenuation of retinal blood vessels |
OMIM:613826 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Hartsfield Syndrome |
|
Depressed nasal bridge, Craniosynostosis, Non-midline cleft lip, Split hand, Cleft palate, Aplasi... |
ORPHA:2117 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Short neck, Abnormality of the thyroid gla... |
ORPHA:2234 |
Geroderma Osteodysplastica |
|
Beaking of vertebral bodies, Pes planus, Mandibular prognathia, Talipes, Recurrent fractures, Hip... |
ORPHA:2078 |
Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius, Mi... |
ORPHA:1765 |
Charge Syndrome |
|
Bifid scrotum, Abnormal tibia morphology, Hemivertebrae, Eyelid coloboma, Abnormality of bone min... |
ORPHA:138 |
Momo Syndrome |
|
Delayed eruption of teeth, Short neck, Thick lower lip vermilion, Dental malocclusion, Femoral bo... |
ORPHA:2563 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Micrognathia, Microcephaly, Cleft lip, Cryptorchidism, Kyphosis, Hyper... |
OMIM:619123 |
Short Stature With Microcephaly And Distinctive Facies |
|
Microretrognathia, Syndactyly, Osteopenia, Death in infancy, Anteverted nares, Depressed nasal br... |
OMIM:615789 |
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome |
|
Short distal phalanx of finger, Brachytelomesophalangy |
ORPHA:1547 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Mandibular prognathia, Anteverted nares, Tapered finger, Hypertelorism, Conductive hearing impair... |
OMIM:618672 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad nasal tip, Wide nasal bri... |
OMIM:614207 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Abnormal hand morphology, Short digit, Short 5th metacarpal |
ORPHA:228190 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Posteriorly rotated ears, Cleft soft palate, Underdeveloped antitragus, Prominent nose, Abnormal ... |
ORPHA:293725 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Micrognathia, Fasting hyperinsulinemia, Reduced bone mineral density, Fin... |
ORPHA:79474 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Aganglionic megacolon, Prominent nasal bridge, Tapered finger, Bulbous nose, Flexion contracture,... |
OMIM:613870 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Narrow mouth, Split hand... |
OMIM:246560 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Tented upper lip vermilion, Dental crowding, Short neck, Brachycephaly, High palate, Atrial septa... |
OMIM:612582 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Osteolysis, Hyp... |
ORPHA:324964 |
German Syndrome |
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Depressed nasal bridge, Camptodactyly of finger, Micrognathia, Short neck, Cryptorchidism, Hearin... |
ORPHA:2077 |
Witteveen-Kolk Syndrome |
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Decreased response to growth hormone stimulation test, Proximal placement of thumb, Congenital di... |
OMIM:613406 |
Joubert Syndrome 37 |
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Frontal bossing, Wide nose, Lumbar hyperlordosis, Anteverted nares, Posteriorly rotated ears, Pos... |
OMIM:619185 |
Mucolipidosis Ii Alpha/Beta |
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Osteopenia, Micrognathia, Cardiomegaly, Metaphyseal widening, Death in childhood, Progressive alv... |
OMIM:252500 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
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Respiratory distress, Hypoventilation, Prominent metopic ridge, Tented upper lip vermilion, Antev... |
ORPHA:314655 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
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Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, L... |
OMIM:615866 |
Plaa-Associated Neurodevelopmental Disorder |
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Hyperextensibility of the finger joints, Tented upper lip vermilion, Edema of the dorsum of feet,... |
ORPHA:521426 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
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Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, Micrognathia, Underdeveloped nas... |
OMIM:619005 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
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Mandibular prognathia, Prominent nose, Short neck, High, narrow palate, Deep philtrum, Brachyceph... |
OMIM:619950 |
Chromosome 1Q41-Q42 Deletion Syndrome |
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Tented upper lip vermilion, Deep philtrum, Hypotelorism, Deeply set eye, Vertebral segmentation d... |
OMIM:612530 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
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Microcephaly, Hypertelorism, Narrow mouth, Wide nasal bridge, Downturned corners of mouth, Wide m... |
OMIM:617333 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
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Cleft lip, Osteoporosis, Anosmia, Cleft palate, Bifid nose, Hyposmia, Clinodactyly |
OMIM:614838 |
Nail-Patella Syndrome |
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Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Thickening of the later... |
OMIM:161200 |
Cochleosaccular Degeneration-Cataract Syndrome |
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Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
Microcephalic Primordial Dwarfism, Dauber Type |
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Prominent nose, Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Limb undergrowth, ... |
ORPHA:319675 |
Loeys-Dietz Syndrome 4 |
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Bicuspid aortic valve, High, narrow palate, Deeply set eye, Abnormal sternum morphology, High pal... |
OMIM:614816 |
Distal Xq28 Microduplication Syndrome |
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Short lingual frenulum, Epistaxis, Dental crowding, Broad nasal tip, Metatarsus adductus, Hypopla... |
ORPHA:293939 |
Leri-Weill dyschondrostosis (LWD) - SHOX deletion |
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Radial bowing, Madelung deformity, Limited pronation/supination of forearm |
DECIPHER:58 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
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Aplasia/Hypoplasia involving the nose, Inguinal hernia, Hypogonadotropic hypogonadism, Choanal at... |
ORPHA:1135 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
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Dental crowding, Short stature, Postnatal growth retardation, Upper limb asymmetry, High palate, ... |
ORPHA:231140 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
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Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia... |
ORPHA:94066 |
Diabetes Insipidus, Neurohypophyseal |
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Osteopenia, Wide nose, Decreased circulating osteocalcin level, Short nose, Central diabetes insi... |
OMIM:125700 |
Dihydropyrimidinase Deficiency |
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Short phalanx of finger, Talipes equinovarus, Anal atresia |
OMIM:222748 |
Distal Duplication 17Q |
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Hallux valgus, Thin upper lip vermilion, Joint laxity, Arachnodactyly, Overlapping toe, Rhizomeli... |
ORPHA:3379 |
Neuralgic Amyotrophy |
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Scapular winging, Cleft palate, Respiratory insufficiency, Narrow mouth, Sprengel anomaly, Acrocy... |
ORPHA:2901 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
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Delayed eruption of teeth, Delayed skeletal maturation, Hip osteoarthritis, Joint hyperflexibilit... |
ORPHA:63442 |
Short Stature, Brussels Type |
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Microretrognathia, Delayed epiphyseal ossification, Narrow chest, Calcification of cartilage, Mac... |
ORPHA:2867 |
Man1B1-Cdg |
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Flat occiput, Prominent nose, Short neck, Pectus carinatum, Short philtrum, Clinodactyly of the 5... |
ORPHA:397941 |
Kenny-Caffey Syndrome, Type 1 |
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Long clavicles, Carious teeth, Thin clavicles, Small hand, Thin ribs, Short foot, Slender long bo... |
OMIM:244460 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
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Abnormality of the philtrum, Bilateral single transverse palmar creases, Non-midline cleft lip, C... |
ORPHA:1770 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
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Flat capital femoral epiphysis, Delayed skeletal maturation, Genu valgum, Platyspondyly, Genu varum |
OMIM:608361 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
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Bifid scrotum, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, S... |
ORPHA:1772 |
Cleidocranial Dysplasia 2 |
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Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the maxilla, Del... |
OMIM:620099 |
Oculopalatocerebral Syndrome |
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Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
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Tented upper lip vermilion, Micrognathia, Aplasia of the distal phalanx of the 5th finger, Oligod... |
OMIM:608670 |
Spondyloenchondrodysplasia |
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Delayed eruption of teeth, Metaphyseal dysplasia, Bowing of the legs, Hypoplastic ilia, Kyphosis,... |
ORPHA:1855 |
Opitz-Kaveggia Syndrome |
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Multiple joint contractures, Dental crowding, Single transverse palmar crease, Micrognathia, Prom... |
OMIM:305450 |
Frontorhiny |
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Lumbar hyperlordosis, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sin... |
ORPHA:391474 |
Mcdonough Syndrome |
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Mandibular prognathia, Low-set, posteriorly rotated ears, Micrognathia, Pectus excavatum, Promine... |
ORPHA:2471 |
Bardet-Biedl Syndrome 10 |
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Polydactyly |
OMIM:615987 |
Musculocontractural Ehlers-Danlos Syndrome |
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Decreased palmar creases, Cervical kyphosis, Generalized joint laxity, Abnormal sternum morpholog... |
ORPHA:2953 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
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Occipital encephalocele, Postaxial polydactyly |
OMIM:213010 |
Caffey Disease |
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Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon... |
OMIM:114000 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
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Delayed eruption of teeth, Prominent nasal bridge, Osteoporosis, Cone-shaped epiphysis, Platyspon... |
ORPHA:71267 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
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Osteopenia, Thin upper lip vermilion, Recurrent respiratory infections, Respiratory distress, Ext... |
ORPHA:329178 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
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Respiratory distress, Multiple joint contractures, Short neck, Secundum atrial septal defect, Met... |
ORPHA:99646 |
Temple-Baraitser Syndrome |
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Tented upper lip vermilion, Triangular shaped distal phalanx of the thumb, High palate, Thick nas... |
ORPHA:420561 |
Weill-Marchesani Syndrome |
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Short thumb, Limitation of joint mobility, Brachydactyly |
ORPHA:3449 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
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Microretrognathia, Thin upper lip vermilion, Low-set, posteriorly rotated ears, Neonatal respirat... |
ORPHA:457193 |
Warburg Micro Syndrome 3 |
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Small scrotum, Kyphoscoliosis, Blepharophimosis, Micrognathia, Hypoplastic labia minora, Flexion ... |
OMIM:614222 |
Retinitis Pigmentosa 10 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Galactosemia Ii |
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Cataract |
OMIM:230200 |
Restrictive Dermopathy 2 |
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Microretrognathia, Respiratory distress, Cyanosis, Rectal prolapse, Hypoplastic facial bones, Ove... |
OMIM:619793 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
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Micrognathia, Flexion contracture, Brachycephaly, Hypotelorism, Protruding ear, Deeply set eye, O... |
OMIM:309590 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
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Delayed eruption of teeth, Frontal bossing, Anteverted nares, Prominent nasal bridge, Dental crow... |
OMIM:618825 |
Leber Congenital Amaurosis 1 |
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Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Attenuation of ... |
OMIM:204000 |
Cardiofaciocutaneous Syndrome 1 |
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Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Short neck, Deep philtrum, Pec... |
OMIM:115150 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
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Osteopenia, Thoracic scoliosis, Multiple joint contractures, Selective tooth agenesis, Lack of fa... |
ORPHA:2959 |
Andersen-Tawil Syndrome |
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Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Oligodonti... |
ORPHA:37553 |
Meester-Loeys Syndrome |
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Joint dislocation, Abnormal sternum morphology, High palate, Joint contracture, Bifid uvula, Arac... |
OMIM:300989 |
Autosomal Dominant Popliteal Pterygium Syndrome |
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Bifid scrotum, Finger syndactyly, Small scrotum, Toe syndactyly, Choanal atresia, Micrognathia, J... |
ORPHA:1300 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
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Failure to thrive in infancy, Broad nasal tip, Obesity, Malar flattening, Short nose, Retrognathi... |
OMIM:613670 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
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Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
Fatco Syndrome |
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Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... |
ORPHA:2492 |
Jacobsen Syndrome |
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Flat occiput, Micrognathia, Short neck, Flexion contracture, Clitoral hypoplasia, Atrial septal d... |
OMIM:147791 |
Mucolipidosis Type Ii |
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Hip contracture, Inguinal hernia, Epicanthus, Depressed nasal bridge, Prominent metopic ridge, Cr... |
ORPHA:576 |
Camptobrachydactyly |
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Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... |
ORPHA:1319 |
Second Metatarsal-Metacarpal Syndrome |
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Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology |
OMIM:269630 |
Craniolenticulosutural Dysplasia |
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Hypoplasia of the maxilla, High palate, Narrow chest, Microdontia, Premature loss of teeth, Decre... |
ORPHA:50814 |
Weaver Syndrome |
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Mandibular prognathia, Short fourth metatarsal, Flat occiput, Single transverse palmar crease, Ac... |
OMIM:277590 |
Cataract 11, Multiple Types |
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Cataract, Developmental cataract |
OMIM:610623 |
Craniosynostosis 2 |
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Frontal bossing, Turricephaly, Wormian bones, Cleft soft palate, Craniosynostosis, Unicoronal syn... |
OMIM:604757 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
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Syndactyly, Broad hallux, Sandal gap, Micromelia, Single transverse palmar crease, Short neck, Th... |
OMIM:614800 |
Mccune-Albright Syndrome |
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Accelerated skeletal maturation, Bone pain, Abnormal femur morphology, Aneurysmal bone cyst, Hype... |
ORPHA:562 |
Mesomelic Dysplasia, Kantaputra Type |
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Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia |
OMIM:156232 |
Triploidy |
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Hypoplasia of penis, Micrognathia, Short neck, Narrow chest, Decreased skull ossification, Low-se... |
ORPHA:3376 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
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Syndactyly, Arachnodactyly, Microcephaly, Pectus excavatum, Hypertelorism, Overfolded helix, Larg... |
OMIM:619092 |
Bohring-Opitz Syndrome |
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Joint dislocation, Micrognathia, Flexion contracture, Atrial septal defect, Dislocated radial hea... |
OMIM:605039 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
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Respiratory distress, Aplasia of the epiglottis, Narrow chest, Atrioventricular canal defect, Dep... |
OMIM:617088 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Tented upper lip vermilion, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Single trans... |
OMIM:617527 |
Ellis-Van Creveld Syndrome |
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Epispadias, Pectus carinatum, Ectodermal dysplasia, Narrow chest, Hypoplastic iliac wing, Atrial ... |
OMIM:225500 |
Dacryocystitis-Osteopoikilosis Syndrome |
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Dacryocystitis, Increased bone mineral density, Lacrimation abnormality, Osteopoikilosis |
ORPHA:1562 |
Mosaic Trisomy 1 |
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Thoracic scoliosis, Single transverse palmar crease, Orofacial cleft, Finger clinodactyly, Pulmon... |
ORPHA:1692 |
Osteogenesis Imperfecta, Type Vi |
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Joint laxity, Protrusio acetabuli, Vertebral compression fracture, Coxa vara, Increased susceptib... |
OMIM:613982 |
Retinitis Pigmentosa 56 |
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Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
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Tented upper lip vermilion, Broad hallux, Single transverse palmar crease, Anteverted nares, Depr... |
OMIM:614105 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
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Vertebral fusion, Elbow contracture, Microcephaly, Hyperlordosis, Kyphosis, Achilles tendon contr... |
OMIM:606612 |
Rhombencephalosynapsis |
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Microretrognathia, Finger syndactyly, Aganglionic megacolon, Anteverted nares, Esophageal atresia... |
ORPHA:59315 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Absent external genitalia, Missin... |
OMIM:271520 |
16P11.2P12.2 Microdeletion Syndrome |
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Microretrognathia, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Proximal placement ... |
ORPHA:261211 |
Ventriculomegaly With Defects Of The Radius And Kidney |
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Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb |
OMIM:602200 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
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Wide nose, Choanal atresia, Microcephaly, Pectus excavatum, Esophageal atresia, Muscular ventricu... |
OMIM:619227 |
Oculocerebrorenal Syndrome Of Lowe |
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Mandibular prognathia, Hyperparathyroidism, Micrognathia, Lacrimation abnormality, Abnormal denta... |
ORPHA:534 |
Char Syndrome |
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No permanent dentition, Depressed nasal ridge, Short philtrum, Clinodactyly of the 5th finger, Me... |
ORPHA:46627 |
Trisomy 18 |
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Pointed helix, Atrial septal defect, Bilateral single transverse palmar creases, Microretrognathi... |
ORPHA:3380 |
21Q22.11Q22.12 Microdeletion Syndrome |
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Short proximal phalanx of the 5th finger, Thin upper lip vermilion, Sacral dimple, Dental crowdin... |
ORPHA:261323 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
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Turricephaly, Apnea, Single transverse palmar crease, Micrognathia, Metatarsus adductus, Dolichoc... |
OMIM:214110 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
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Short nose, Sandal gap, Long philtrum |
OMIM:300887 |
Synpolydactyly 2 |
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Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
Oculocerebrofacial Syndrome, Kaufman Type |
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Respiratory distress, Clitoral hypertrophy, Flat occiput, Arachnodactyly, Micrognathia, Microceph... |
ORPHA:2707 |
22Q11.2 Deletion Syndrome |
|
Micrognathia, Short neck, Abnormal lung lobation, Abnormal aortic arch morphology, Short philtrum... |
ORPHA:567 |
Fanconi Anemia, Complementation Group I |
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Absent thumb, Short neck, Short thumb, Hypoplasia of the radius, Fused cervical vertebrae, Short ... |
OMIM:609053 |
Waardenburg Syndrome Type 3 |
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Narrow nasal bridge, Atrial septal defect, Tented upper lip vermilion, Camptodactyly of finger, H... |
ORPHA:896 |
Esophageal Atresia |
|
Respiratory distress, Bronchitis, Clinodactyly, Abnormality of the ear, Aspiration, Abnormal vert... |
ORPHA:1199 |
Congenital Disorder Of Glycosylation, Type Il |
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Depressed nasal bridge, Short neck, Kyphosis, Hip dislocation, Wide mouth, Long philtrum, Short nose |
OMIM:608776 |
Oncogenic Osteomalacia |
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Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal foot morphology, Fibro... |
ORPHA:352540 |
Marshall Syndrome |
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Anteverted nares, Depressed nasal bridge, Abnormality of the dentition, Micrognathia, Hypoplasia ... |
ORPHA:560 |
Leber Congenital Amaurosis 16 |
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Optic disc pallor, Cataract |
OMIM:614186 |
Anophthalmia Plus Syndrome |
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Choanal atresia, Abnormal nasal morphology, Non-midline cleft lip, Cleft palate, Bilateral cleft ... |
ORPHA:1104 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
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Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Pierre-Robin sequence, A... |
OMIM:602196 |
17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly, Tracheoesophageal fistula, Cleft palate, Abnormal vertebral mo... |
ORPHA:261272 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Micrognathia, Short neck, High palate, Short palm, Anteverted nares, Depressed nasal bridge, Tape... |
OMIM:272430 |
Non-Distal Deletion 10Q |
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Brachydactyly, Wide nasal bridge, Clinodactyly of the 5th finger, Overlapping fingers, Bilateral ... |
ORPHA:1581 |
Lamb-Shaffer Syndrome |
|
Broad nasal tip, Micrognathia, Microcephaly, Decreased head circumference, Fused cervical vertebr... |
ORPHA:530983 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he... |
OMIM:128980 |
Keppen-Lubinsky Syndrome |
|
Decreased testicular size, Narrow nasal bridge, Failure to thrive, Lipodystrophy, Micrognathia, U... |
ORPHA:435628 |
Trisomy 17P |
|
Hypoplasia of penis, Micrognathia, Prominent nose, Short neck, Flexion contracture, Orofacial cle... |
ORPHA:261290 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Tented upper lip vermilion, Short neck, Large fleshy ears, High palate, Narrow chest, Atrial sept... |
ORPHA:280633 |
Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Wide nose, Ventricular septal defect, Underdeveloped nasal alae, Bifid nasal tip, ... |
ORPHA:398156 |
19P13.3 Microduplication Syndrome |
|
Kyphoscoliosis, Micrognathia, Prominent nose, Long fingers, Underdeveloped nasal alae, Hip disloc... |
ORPHA:447980 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Vertebral segmentation defect, Abnormality of the uterus, Atrial sept... |
ORPHA:2970 |
Mgat2-Cdg |
|
Osteopenia, Respiratory distress, Dental crowding, Low-set, posteriorly rotated ears, Hypertelori... |
ORPHA:79329 |
Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Abnormal salivary gland morphology, Abnormal digit morphology, Syndactyly, Finger s... |
ORPHA:2363 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Death in infancy, Arachnodactyly, Micrognathia, Bulbous nose, Wide nasal bridge, Cleft palate, Na... |
ORPHA:93946 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Thoracic kyphoscoliosis, Reduced vital capacity, Cyanosis, Orthopnea, Weakness of the intrinsic h... |
ORPHA:98913 |
Peho Syndrome |
|
Tented upper lip vermilion, Edema of the dorsum of feet, Tapered finger, Open mouth, Retrognathia... |
OMIM:260565 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Osteopenia, Congenital hip dislocation, Hypotelorism, Protruding ear, Deeply set eye, High palate... |
OMIM:612940 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad hallux, Broad nasal tip, ... |
OMIM:614749 |
Mogs-Cdg |
|
Respiratory distress, Absent brainstem auditory responses, Thoracic scoliosis, Wide nose, Left ve... |
ORPHA:79330 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Ventricular... |
ORPHA:1782 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Micrognathia, Microcephaly, Hypertelorism, Bulbous nose, Wide nasal bridge,... |
ORPHA:261304 |
Cornelia De Lange Syndrome |
|
Proximal placement of thumb, Micromelia, Micrognathia, Short neck, Downturned corners of mouth, W... |
ORPHA:199 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal... |
OMIM:140000 |
Joubert Syndrome 10 |
|
Frontal bossing, Postaxial polydactyly, Deep philtrum, Wide nasal bridge, Thick vermilion border,... |
OMIM:300804 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Single transverse palmar crease, Microcephaly, Muscular ventricular septal defect, Adducted thumb... |
OMIM:620062 |
Auriculoosteodysplasia |
|
Abnormal clavicle morphology, Elbow dislocation, Hip dysplasia, Aplasia/Hypoplasia of the radius,... |
ORPHA:114 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Adenoiditis, Cardiomegaly, Flexion contracture, Abnormal form of th... |
ORPHA:581 |
Glass Syndrome |
|
Dental crowding, Anterior tibial bowing, Conical tooth, Micrognathia, Long nose, Oligodontia, Hig... |
OMIM:612313 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Micrognathia, Joint stiffness, Hyperlordosis, Narrow ... |
ORPHA:1323 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Rod-cone dystrophy, Cataract, Retinal coloboma |
OMIM:601794 |
Fanconi Anemia, Complementation Group W |
|
Abnormal radial ray morphology, Hypoplasia of the radius, Absent thumb, Duodenal atresia |
OMIM:617784 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Prominent nasal bridge, Abnormality of canin... |
ORPHA:364577 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Recurrent fractures... |
OMIM:300554 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Cyanosis, Abnormal coronary artery morphology, Ventricul... |
ORPHA:860 |
Keutel Syndrome |
|
Recurrent respiratory infections, Wide nose, Depressed nasal bridge, Ventricular septal defect, H... |
ORPHA:85202 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve... |
OMIM:610168 |
Vacterl Association With Hydrocephalus |
|
Absent thumb, Radial club hand, Abnormality of the vertebral column, Stillbirth, Abnormal vertebr... |
OMIM:276950 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Aplasia/Hypoplasia of the clavicles, Convex nasal ridge, Abnormal fingertip morphology, Abnormali... |
ORPHA:90154 |
Ring Chromosome 10 Syndrome |
|
Frontal bossing, Sandal gap, Aganglionic megacolon, Micrognathia, Pectus excavatum, Tapered finge... |
ORPHA:1438 |
Specc1L-Related Hypertelorism Syndrome |
|
Brachycephaly, Orofacial cleft, Atrial septal defect, Clinodactyly of the 5th finger, Advanced er... |
ORPHA:1519 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia, Sacrococcygeal teratoma |
ORPHA:1757 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Dental crowding, Short neck, Rectal prolapse, Short metatarsal, Brachycephaly, Deeply set eye, Hi... |
OMIM:617157 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 4th toe, Hypoplasia of the max... |
ORPHA:397973 |
Hydrolethalus |
|
Low-set, posteriorly rotated ears, Micromelia, Micrognathia, Cryptorchidism, Postaxial hand polyd... |
ORPHA:2189 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Anteverted nares, Down-sloping shoulders, Prominent nasal bridge, Micrognathia... |
ORPHA:1974 |
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome |
|
Epicanthus, Small scrotum, Cryptorchidism, Synophrys, Wide nasal bridge, Scoliosis, Thick eyebrow... |
ORPHA:1970 |
Double Outlet Right Ventricle |
|
Cyanosis, Depressed nasal bridge, Intestinal malrotation, Ventricular septal defect, Hyperteloris... |
ORPHA:3426 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Rocker bottom foot, Equinovarus deformity, Micrognathia, Calcaneovalg... |
ORPHA:3078 |
Müllerian Aplasia And Hyperandrogenism |
|
Short neck, Cleft palate, Shield chest, Short philtrum, Cubitus valgus, Brachydactyly |
ORPHA:247768 |
Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li... |
OMIM:311200 |
Meier-Gorlin Syndrome 4 |
|
Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Microcephaly, Pa... |
OMIM:613804 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Premature thelarche, Protruding ear, Deeply set eye, Widely spaced teeth, Micropenis, Hypospadias... |
ORPHA:268261 |
Juberg-Hayward Syndrome |
|
Aplasia/Hypoplasia of the thumb, Cleft upper lip, Abnormal toe morphology, Abnormal carpal morpho... |
OMIM:216100 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Congenital ptosis, Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Osteopenia, Recurrent respiratory infections, Osteomyelitis, Recurrent... |
ORPHA:2314 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Osteopenia, Anosmia, Osteoporosis, Cleft palate, Genu valgum |
OMIM:614880 |
Pontocerebellar Hypoplasia, Type 10 |
|
Kyphoscoliosis, Tapered finger, Short neck, Cryptorchidism, Synophrys, Highly arched eyebrow, Bul... |
OMIM:615803 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Flat occiput, Single transverse palmar crease, Micrognathia, High, narrow palate, High palate, De... |
OMIM:214100 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Prominent nose, Tapered finger, Long fingers, Microcephaly, Thick lower lip vermilion, Simplified... |
OMIM:614407 |
Okur-Chung Neurodevelopmental Syndrome |
|
Single transverse palmar crease, Micrognathia, Simplified gyral pattern, High palate, Clinodactyl... |
OMIM:617062 |
Gorlin-Chaudhry-Moss Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Hypertelorism, Patent ductus arteriosus,... |
ORPHA:2095 |
Noonan Syndrome |
|
Micrognathia, Pectus carinatum, Enlarged thorax, High palate, Thickened helices, Clinodactyly of ... |
ORPHA:648 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Hand oligodactyly, Aplasia of the ulna |
OMIM:276822 |
9Q21.13 Microdeletion Syndrome |
|
Talipes, Craniosynostosis, Wide nasal ridge, Abnormal tongue morphology, Downturned corners of mo... |
ORPHA:531151 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Coxa valga, Hypoplasia of the maxilla, Hypertelorism, Sensor... |
OMIM:109120 |
15Q Overgrowth Syndrome |
|
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta... |
ORPHA:314585 |
Schilbach-Rott Syndrome |
|
Hypospadias, Posteriorly rotated ears, Prominent nose, Micrognathia, Long nose, 2-3 toe cutaneous... |
OMIM:164220 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, High, narrow palate, Anteriorly placed anus, Right ventricular dilatation, ... |
OMIM:612863 |
Acromelic Frontonasal Dysplasia |
|
Median cleft lip, Broad nasal tip, Bifid nasal tip, Patellar hypoplasia, Wide mouth, Talipes equi... |
ORPHA:1827 |
Adams-Oliver Syndrome 3 |
|
Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx of finger, Sho... |
OMIM:614814 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ventricular septal defect, Selective tooth agenesis, Hypospadias, Conical tooth, Hypoplasia of th... |
OMIM:106260 |
Orofaciodigital Syndrome V |
|
Lobulated tongue, High palate, Bifid uvula, Hamartoma of tongue, Hypertelorism, Postaxial foot po... |
OMIM:174300 |
Say Syndrome |
|
Ulnar deviation of the 3rd finger, Micrognathia, Tapered finger, Cleft palate, Short distal phala... |
OMIM:181180 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Dental crowding, Micrognathia, High, narrow palate, Downturned corners of mouth, Clinodactyly of ... |
ORPHA:96182 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Bicuspid aortic valve, Single transverse palmar crease, Protruding ear, Downturned corners of mou... |
ORPHA:329224 |
14Q22Q23 Microdeletion Syndrome |
|
Small scrotum, Anterior pituitary hypoplasia, Adrenal hypoplasia, Micrognathia, Short palm, Clino... |
ORPHA:264200 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Joint laxity, Anteverted nares, Prominent nasal bridge, Short 5th finger, Scoliosis, Acromesomeli... |
ORPHA:500159 |
Orofaciodigital Syndrome Type 1 |
|
Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly of the 5t... |
ORPHA:2750 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Frontal bossing, Ventricular septal defect, Hypogonadotropic hypogonadism, Hypo... |
OMIM:206900 |
Marden-Walker Syndrome |
|
Micrognathia, Epispadias, Abnormal form of the vertebral bodies, Pectus carinatum, Bifid uvula, A... |
ORPHA:2461 |
19P13.12 Microdeletion Syndrome |
|
Short neck, Brachycephaly, Short palm, Atrial septal defect, Clinodactyly of the 5th finger, Cond... |
ORPHA:254346 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Aganglionic megacolon, Malabsorption, Pectus excavatum, Reduced bone mineral density, Long fibula... |
ORPHA:935 |
Erythrokeratodermia Variabilis |
|
Brachydactyly, Patchy palmoplantar hyperkeratosis, Tapered finger |
ORPHA:317 |
Aminopterin/Methotrexate Embryofetopathy |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Micrognathia, Pulmonary arter... |
ORPHA:1908 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Atrial septal defect, Toe syndactyly, Ventricular septal defect, Intestinal malrotation, Dextroca... |
OMIM:619657 |
Alkuraya-Kucinskas Syndrome |
|
Overlapping toe, Anteverted nares, Depressed nasal bridge, Micrognathia, Abnormal foot morphology... |
OMIM:617822 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Mandibular prognathia, Synophrys, Upslanted palpebral fissure, Macroorchidism, Short nose, Joint ... |
OMIM:300143 |
Al Kaissi Syndrome |
|
High, narrow palate, Hemivertebrae, Brachycephaly, Atrial septal defect, Depressed nasal bridge, ... |
OMIM:617694 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Pes planus, Sandal gap, Tapered finger, Cleft lip, Small hand, Cleft palate, Downturned corners o... |
OMIM:618089 |
Genitopatellar Syndrome |
|
Small scrotum, Apnea, Hypoplastic ischia, Micrognathia, Prominent nose, Knee flexion contracture,... |
ORPHA:85201 |
Bardet-Biedl Syndrome 19 |
|
Atrial septal defect, Ventricular septal defect, Mesoaxial hand polydactyly, Postaxial polydactyl... |
OMIM:615996 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Thin upper lip vermilion, Pes planus, Prominent nasal bridge, Craniosynostosis, Broad nasal tip, ... |
OMIM:618050 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Prominent superficial veins, Down-sloping shoulders, Kyphoscoliosis, Micrognathia, Pectus excavat... |
OMIM:616817 |
Leukodystrophy, Hypomyelinating, 10 |
|
Anteverted nares, Arachnodactyly, Bulbous nose, Thin vermilion border, Long philtrum, Short nose,... |
OMIM:616420 |
Trisomy 10P |
|
Thumb contracture, Anteverted nares, Depressed nasal bridge, Abnormality of the hand, Micrognathi... |
ORPHA:171929 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Mandibular prognathia, Tented upper lip vermilion, Bicuspid aortic valve, Single transverse palma... |
OMIM:619720 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Single transverse palmar crease, Deep philtrum, Protruding ear, Deeply set eye, Short philtrum, J... |
OMIM:620098 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Vacterl/Vater Association |
|
Bifid scrotum, Occipital encephalocele, Hypoplasia of penis, Abnormal intervertebral disk morphol... |
ORPHA:887 |
8P Inverted Duplication/Deletion Syndrome |
|
Micrognathia, Short neck, High, narrow palate, Clinodactyly of the 5th finger, Micropenis, Small ... |
ORPHA:96092 |
Meier-Gorlin Syndrome 5 |
|
Prominent metopic ridge, Small earlobe, Micrognathia, Elbow dislocation, Hypoplasia of the maxill... |
OMIM:613805 |
Galloway-Mowat Syndrome 7 |
|
Hallux valgus, Arachnodactyly, Single transverse palmar crease, Kyphoscoliosis, Micrognathia, Pec... |
OMIM:618348 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Coxa vara, Tibial bowing, Enthesitis, Hypophosphatemic rickets, Sclerotic vertebral endplates, Ge... |
ORPHA:289176 |
Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Postaxial hand polydactyly, Cleft palate, Postaxial foot polydactyly, Po... |
OMIM:607361 |
Insulin-Like Growth Factor I, Resistance To |
|
Micrognathia, Deeply set eye, High palate, Atrial septal defect, Patent foramen ovale, Long philt... |
OMIM:270450 |
Bruck Syndrome |
|
Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspon... |
ORPHA:2771 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Hypergonadotropic hypogonadism, Abnormality of the middle ear ossicles, Hyperte... |
ORPHA:90646 |
Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Frontal bossing, Ulnar deviation of the hand, Hypospadias, Sacral dimple... |
OMIM:614175 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Atrial septal defect, Frontal bossing, Abnormal mitral valve morphology, Prominent nose, Microcep... |
ORPHA:1292 |
Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Micrognathia, Esophageal atresia, Broad thumb, Smooth philtrum, Brachydactyly |
OMIM:614526 |
Microphthalmia, Syndromic 2 |
|
Anteverted ears, 2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Atr... |
OMIM:300166 |
Hogue-Janssen Syndrome 2 |
|
Prominent metopic ridge, Tented upper lip vermilion, Broad hallux, Anteverted nares, Postaxial po... |
OMIM:616362 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Epistaxis, Epiphyseal stippling, Short nose, Joint hemorrhage, Short distal phalanx of finger |
OMIM:277450 |
Xk Aprosencephaly Syndrome |
|
Abnormal morphology of the radius, Abnormal nostril morphology, Anal atresia, Narrow mouth |
ORPHA:3469 |
Cleft Palate, Deafness, And Oligodontia |
|
Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition... |
OMIM:216300 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Broad proximal phalanges of the hand, Choanal atresia, Cleft upper lip, High, narrow palate, Depr... |
OMIM:607597 |
Craniofacioskeletal Syndrome |
|
Micrognathia, Short philtrum, Short palm, Atrial septal defect, Clinodactyly of the 5th finger, B... |
OMIM:300712 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... |
OMIM:610256 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Posterior plagiocephaly, Oligodontia, Widely spaced teeth, Short 4th toe, Mi... |
OMIM:615873 |
Myotubular Myopathy With Abnormal Genital Development |
|
Bifid scrotum, Death in infancy, Respiratory distress, Hypospadias, Unilateral cryptorchidism, Bi... |
OMIM:300219 |
Tbck-Related Intellectual Disability Syndrome |
|
11 pairs of ribs, Broad toe, Mandibular prognathia, Tented upper lip vermilion, Short neck, Pectu... |
ORPHA:488632 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Micrognathia, Short neck, Intrauterine growth retardation, Micropenis, Anteverted nares, Cleft so... |
ORPHA:2282 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Inguinal hernia, Sandal gap, Abnormal dental enamel morphology, Supernumerar... |
ORPHA:1812 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Rod-cone dystrophy, Cataract, Retinal coloboma |
ORPHA:363741 |
Coffin-Siris Syndrome 12 |
|
Micrognathia, Hypotelorism, Protruding ear, Deeply set eye, High palate, Patent foramen ovale, Si... |
OMIM:619325 |
You-Hoover-Fong Syndrome |
|
Kyphoscoliosis, Accessory oral frenulum, Pectus excavatum, Cleft palate, Clinodactyly, Brachydactyly |
OMIM:616954 |
Coffin-Siris Syndrome 11 |
|
Frontal bossing, Prominent metopic ridge, Depressed nasal bridge, Cleft soft palate, Uplifted ear... |
OMIM:618779 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori... |
OMIM:602772 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Micrognathia, Short neck, High palate, Triphalangeal thumb, Adenocarcinoma... |
ORPHA:124 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
Osteogenesis Imperfecta, Type Iv |
|
Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Reduced bone mineral density, Incre... |
OMIM:166220 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Single transverse palmar crease, Micrognathia, Secundum atrial septal defect, Deep philtrum, Shor... |
OMIM:619951 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Short neck, Metaphyseal widening, Flexion contracture, Pectus carinatum, De... |
OMIM:617303 |
Ohdo Syndrome, X-Linked |
|
Small scrotum, Micrognathia, Prominent nose, High palate, Narrow chest, Widely spaced teeth, Micr... |
OMIM:300895 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Mandibular prognathia, Microretrognathia, Sacral dimple, Epicanthus, Tapered finger, Wide nasal b... |
OMIM:613603 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, High, narrow ... |
ORPHA:464738 |
Distal 22Q11.2 Microdeletion Syndrome |
|
High, narrow palate, Deeply set eye, Short palm, Clinodactyly of the 5th finger, Atrial septal de... |
ORPHA:261330 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Pes planus, Congenital hip dislocation, Anteverted nares, Carious teeth, Narrow mouth, Wide anter... |
OMIM:219200 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... |
OMIM:615994 |
Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Cryptorchidism, Wide anterior... |
OMIM:300963 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Absent lacrimal punctum, Hypoplasia of penis, Diabetes mellitus, Hypos... |
ORPHA:2315 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Hypospadias, Postaxial polydactyly, Abnormal tongue physiology, Microcephaly, Anteverted ears, Wi... |
ORPHA:544254 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Kaufman Oculocerebrofacial Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Long palm, Intestinal malrotation, Single t... |
OMIM:244450 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Thin upper lip vermilion, Overlapping toe, High, narrow palate, Bulbous nose, Cleft palate, Anter... |
OMIM:618494 |
Al-Gazali Syndrome |
|
Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Micrognathia, Bi... |
OMIM:609465 |
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae, Coxa valga |
OMIM:271620 |
Braddock-Carey Syndrome 2 |
|
Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Clinodactyly, Retrognathia |
OMIM:619981 |
Adnp Syndrome |
|
Respiratory distress, Single transverse palmar crease, Abnormal finger morphology, Brachycephaly,... |
ORPHA:404448 |
Ayme-Gripp Syndrome |
|
Mandibular prognathia, Brachycephaly, Depressed nasal bridge, Tapered finger, Hypertelorism, Wide... |
OMIM:601088 |
Weill-Marchesani Syndrome 3 |
|
Joint stiffness, Brachydactyly |
OMIM:614819 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Mosaic Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Micrognathia, Short neck, High, narrow palate, Dermatoglyphic ... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Micrognathia, Short neck, High, narrow palate, Dermatoglyphic ... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Bicuspid aortic valve, Micrognathia, Short neck, High, narrow palate, Dermatoglyphic ... |
ORPHA:881 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Bicuspid aortic valve, Micrognathia, Short neck, High, narrow palate, Dermatoglyphic ... |
ORPHA:99413 |
Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Polydactyly |
OMIM:615397 |
Fetal Akinesia Deformation Sequence 1 |
|
Elbow contracture, Micrognathia, Short neck, High, narrow palate, Congenital contracture, High pa... |
OMIM:208150 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Agyria, Spinal rigidity, Flexion contracture, Dilated cardiomyopathy, Myocardial f... |
OMIM:253800 |
Aspergillosis |
|
Sinusitis, Abnormal long bone morphology, Intracranial hemorrhage, Cough, Chronic pulmonary obstr... |
ORPHA:1163 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Micrognathia, Missing ribs, Short neck, Hypertelorism, Abnormal rib morp... |
ORPHA:1834 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Broad hallux, Sandal gap, Thick nasal alae, Persistence of primary teeth, Conical tooth, Clinodac... |
OMIM:618727 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Scapular winging, Anteverted nares, Micrognathia, Pectus excavatum, Submucous cleft hard palate, ... |
OMIM:619122 |
Dpm1-Cdg |
|
Tented upper lip vermilion, Sandal gap, Depressed nasal bridge, Micrognathia, High, narrow palate... |
ORPHA:79322 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e... |
OMIM:618022 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Epicanthus, Sclerotic vertebral body, Kyphosis, Metaphyseal widening, Bulbous nose, Craniofacial ... |
OMIM:618476 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Abnormal pinna morphology, Cleft upper lip, Short neck, Sensorineural ... |
OMIM:214300 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Micrognathia, Cardiomegaly, Neonatal death, Anteverted nares, Depres... |
OMIM:608013 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... |
OMIM:618195 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Narrow nasal bridge, Abnormal dental enamel morphology, Elbow dislocation, Conductive hearing imp... |
ORPHA:3236 |
Leber Congenital Amaurosis |
|
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract |
ORPHA:65 |
15q26 overgrowth syndrome |
|
Long toe, Mandibular prognathia, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Taper... |
DECIPHER:81 |
Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Short neck, Accelerated skeletal maturation, Flexion contracture, Pectus carinatu... |
OMIM:253220 |
16P13.11 Microdeletion Syndrome |
|
Thin upper lip vermilion, Exaggerated cupid's bow, Camptodactyly of finger, Anteverted nares, Cle... |
ORPHA:261236 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Osteopenia, Frontal bossing, Turricephaly, Wide cranial sutures, Recurrent fra... |
OMIM:616294 |
Short Stature-Micrognathia Syndrome |
|
Joint laxity, Rhizomelia, Bowing of the legs, Coxa valga, Micrognathia, Metaphyseal widening, 2-3... |
OMIM:617164 |
49,Xxxyy Syndrome |
|
Mandibular prognathia, Low-set, posteriorly rotated ears, External genital hypoplasia, Abnormalit... |
ORPHA:261534 |
Pseudohypoparathyroidism, Type Ib |
|
Short metacarpal, Brachydactyly |
OMIM:603233 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Micromelia |
OMIM:273680 |
Chromosome 5Q12 Deletion Syndrome |
|
Long toe, Frontal bossing, Sacral dimple, Ventricular septal defect, Posteriorly rotated ears, Pr... |
OMIM:615668 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Syndactyly, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Pectus carinatum, Long p... |
OMIM:616430 |
Gm1 Gangliosidosis Type 1 |
|
Depressed nasal bridge, Spatulate ribs, Broad nasal tip, Gingival overgrowth, Pectus carinatum, H... |
ORPHA:79255 |
Short Syndrome |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Hypertelorism, Abnormal zygomati... |
ORPHA:3163 |
Hydrolethalus Syndrome 1 |
|
Median cleft lip, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplicatio... |
OMIM:236680 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postaxial polydactyly, Short neck, Kyphoscoliosis, Abnormal thorax morphology, Hemive... |
OMIM:302960 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Xerostomia, Preaxial polydactyly, Conical incisor, Radial deviation of t... |
OMIM:149730 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Depressed nasal ridge, Anteverted nares, Hypospadias, Short nose |
ORPHA:1355 |
Momo Syndrome |
|
Delayed eruption of teeth, Frontal bossing, Underfolded helix, Cutis marmorata, Short neck, Hyper... |
OMIM:157980 |
Kapur-Toriello Syndrome |
|
Intestinal malrotation, Camptodactyly of finger, Cleft upper lip, Single transverse palmar crease... |
OMIM:244300 |
Distal Deletion 6P |
|
Wide nose, Anteverted nares, Depressed nasal bridge, Abnormality of the dentition, Micrognathia, ... |
ORPHA:96125 |
C Syndrome |
|
Micromelia, Micrognathia, Short neck, High palate, Clinodactyly of the 5th finger, Bilateral sing... |
ORPHA:1308 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta... |
OMIM:300998 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Thin bony cortex, Anteverted nares, Increased intervertebral space, Thick ... |
OMIM:619727 |
Stevens-Johnson Syndrome |
|
Dyspareunia, Entropion, Conjunctivitis, Weight loss |
ORPHA:36426 |
Wiedemann-Steiner Syndrome |
|
Decreased response to growth hormone stimulation test, Accelerated skeletal maturation, Synophrys... |
ORPHA:319182 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Mandibular prognathia, Osteopenia, Proximal placement of thumb, Short neck, Brachycephaly, Thorac... |
OMIM:212066 |
Shwachman-Diamond Syndrome 1 |
|
Ovoid vertebral bodies, Anterior rib cupping, Metaphyseal sclerosis, Metaphyseal chondrodysplasia... |
OMIM:260400 |
Pontine Tegmental Cap Dysplasia |
|
Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis, Failure to thrive, Ptosis |
OMIM:614688 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Single transverse palmar crease, Uplifted earlobe, Pectus carinatum, ... |
OMIM:616449 |
Distal Triplication 15Q |
|
Micrognathia, Flexion contracture, Abnormal sternum morphology, High palate, Atrial septal defect... |
ORPHA:314588 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of the knee, Micrognathia, Crowded maxillary incisors, Lower limb asymmetry, Abnormal... |
ORPHA:2063 |
Chromosome 18P Deletion Syndrome |
|
Barrel-shaped chest, Toe syndactyly, Anteverted nares, Posteriorly rotated ears, Micrognathia, Sh... |
OMIM:146390 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Dental crowding, Prominent nose, Cardiomegaly, High, narrow palate, Short philtrum, Widely spaced... |
OMIM:300967 |
Caudal Regression Syndrome |
|
Missing ribs, Joint stiffness, Cryptorchidism, Abnormal iliac wing morphology, Aplasia/Hypoplasia... |
ORPHA:3027 |
Toluene Embryopathy |
|
Epicanthus, Micrognathia, Tapered finger, Cryptorchidism, Hypoplasia of the zygomatic bone, Short... |
ORPHA:1920 |
Hurler Syndrome |
|
Short neck, Metaphyseal widening, Flexion contracture, Microdontia, Hypoplasia of the femoral hea... |
OMIM:607014 |
Aneurysm-Osteoarthritis Syndrome |
|
Osteoarthritis, Knee osteoarthritis, Pectus carinatum, Joint laxity, Arachnodactyly, Osteoporosis... |
ORPHA:284984 |
Synaptic Congenital Myasthenic Syndromes |
|
Mandibular prognathia, Abnormality of the knee, Scapular winging, Respiratory distress, Hypoventi... |
ORPHA:98915 |
Burn-Mckeown Syndrome |
|
Mandibular prognathia, Ventricular septal defect, Choanal atresia, Prominent nasal bridge, Microg... |
OMIM:608572 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... |
ORPHA:3216 |
Hydrolethalus Syndrome 2 |
|
Postaxial hand polydactyly, Anencephaly, Cleft palate, Postaxial foot polydactyly, Preaxial foot ... |
OMIM:614120 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Recurrent fractures, Biconcave flattened vertebrae, Femoral bowing, Increased suscept... |
OMIM:166200 |
19P13.13 Microdeletion Syndrome |
|
Thin upper lip vermilion, Pes planus, Sandal gap, Anteverted nares, Depressed nasal bridge, Pectu... |
ORPHA:357001 |
Spondylocamptodactyly Syndrome |
|
Platyspondyly, Camptodactyly of finger, Scoliosis |
ORPHA:3180 |
17Q24.2 Microdeletion Syndrome |
|
Micrognathia, Short neck, Deeply set eye, Short philtrum, Abnormality of the wrist, Hypertelorism... |
ORPHA:529962 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Micrognathia, Protruding ear, Deeply set eye, High palate, Short philtrum, Clinodactyly of the 5t... |
OMIM:618443 |
Enhanced S-Cone Syndrome |
|
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis |
OMIM:268100 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Small scrotum, Bicuspid aortic valve, Micrognathia, High, narrow palate, B... |
OMIM:612289 |
Stankiewicz-Isidor Syndrome |
|
Sacral dimple, Ventricular septal defect, Hypospadias, Micrognathia, Absent thumb, Short thumb, P... |
OMIM:617516 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Cleft palate, Radioulnar synostosis, Short middle phalanx of the 4th finger, Overlapping fingers,... |
OMIM:616738 |
Branchiooculofacial Syndrome |
|
Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Short neck, Premature... |
OMIM:113620 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Flat occiput, Micrognathia, Short neck, High palate, Narrow chest, Protein-losing enteropathy, Mi... |
OMIM:235255 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Small scrotum, Congenital diaphragmatic hernia, Micrognathia, 2-3 toe cutaneous syndactyly, Laryn... |
OMIM:618454 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Xeroderma Pigmentosum, Variant Type |
|
Entropion, Conjunctivitis, Ectropion |
OMIM:278750 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Rocker bottom foot, Single transverse palmar crease, Bro... |
OMIM:272950 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Epicanthus, Tapered finger, Short 3rd toe, Short thumb, Hypothyroidism, Split hand, Wide nasal br... |
OMIM:618569 |
Jaberi-Elahi Syndrome |
|
Depressed nasal bridge, Joint stiffness, Kyphosis, Short nose, Pectus carinatum, Talipes equinova... |
OMIM:617988 |
Chops Syndrome |
|
Anteverted nares, Ventricular septal defect, Thickened helices, Microcephaly, Hypertelorism, High... |
OMIM:616368 |
Primrose Syndrome |
|
Hypoplasia of the maxilla, Bilateral cryptorchidism, Flexion contracture, Brachycephaly, Knee fle... |
OMIM:259050 |
Scarf Syndrome |
|
Bifid scrotum, Ptosis, Inguinal hernia, Epicanthus, Craniosynostosis, Short neck, Cryptorchidism,... |
ORPHA:3134 |
Cockayne Syndrome A |
|
Mandibular prognathia, Prominent nose, Ivory epiphyses of the phalanges of the hand, Square pelvi... |
OMIM:216400 |
3Mc Syndrome |
|
Craniosynostosis, Hyperlordosis, Abnormal nasal morphology, Hip dislocation, Limited pronation/su... |
ORPHA:293843 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Thin upper lip vermilion, Anteverted nares, Bulbous nose, Thick lower lip vermilion, Gingival ove... |
OMIM:220500 |
Cockayne Syndrome B |
|
Mandibular prognathia, Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplas... |
OMIM:133540 |
Fanconi Anemia, Complementation Group P |
|
Micrognathia, Absent thumb, Short thumb, Bulbous nose, Hypoplasia of the radius |
OMIM:613951 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Mandibular prognathia, Syndactyly, Clinodactyly, Short nose |
OMIM:618087 |
Dystonia-Deafness Syndrome 1 |
|
Hypoplastic scapulae, Kyphoscoliosis, Femoral retroversion, Cleft upper lip, Cleft palate |
OMIM:607371 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Dental crowding, Downturned corners of mouth, Widely spaced teeth, Short philtrum, Broad hallux, ... |
OMIM:301044 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Lumbar hyperlordosis, Camptodactyly of finger, Wrist swelling, Knee osteoarthritis, Osteoporosis,... |
ORPHA:2848 |
Xeroderma Pigmentosum, Complementation Group D |
|
Keratoconjunctivitis sicca, Entropion, Conjunctivitis, Ectropion |
OMIM:278730 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, High palate, Conductive hearing imp... |
OMIM:102500 |
Xeroderma Pigmentosum, Complementation Group E |
|
Entropion, Conjunctivitis, Ectropion |
OMIM:278740 |
Cataract 16, Multiple Types |
|
Posterior polar cataract, Retinal dystrophy, Lenticonus, Developmental cataract |
OMIM:613763 |
Microphthalmia, Syndromic 8 |
|
Mandibular prognathia, Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary ce... |
OMIM:601349 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... |
OMIM:615986 |
Menke-Hennekam Syndrome 1 |
|
Micrognathia, Flexion contracture, Depressed nasal ridge, Cutaneous syndactyly of toes, Clinodact... |
OMIM:618332 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Osteopenia, Choanal atresia, Cleft upper lip, Anosmia, Cleft palate, Tooth agenesis, Ectrodactyly... |
OMIM:147950 |
Maternal Phenylketonuria |
|
Anteverted nares, Ventricular septal defect, Micrognathia, Bifid distal phalanx of the thumb, Eso... |
ORPHA:2209 |
Nance-Horan Syndrome |
|
Prominent nasal bridge, Prominent nose, Diastema, Mulberry molar, Broad finger, Supernumerary max... |
OMIM:302350 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Limb joint contracture, Micrognathia, Microcephaly, Flexion contracture, 2-3 toe syndactyly, Ging... |
OMIM:618186 |
Uveal Melanoma |
|
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... |
ORPHA:39044 |
Goldberg-Shprintzen Syndrome |
|
Aganglionic megacolon, Prominent nasal bridge, Ventricular septal defect, Tapered finger, Hypopla... |
OMIM:609460 |
Acrofrontofacionasal Dysostosis 2 |
|
Bifid scrotum, Syndactyly, Wide nose, Sacral dimple, Broad hallux, Hypospadias, Posteriorly rotat... |
OMIM:239710 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Thickened ribs, Flexion contracture, Increased size of nasopharyngeal adenoids, Abnormal tricuspi... |
ORPHA:217085 |
Cerebrooculonasal Syndrome |
|
Brachycephaly, Downturned corners of mouth, High palate, Conductive hearing impairment, Long phil... |
OMIM:605627 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Aplasia/Hypoplasia involving the nose, Micrognathia, Missing ribs,... |
ORPHA:3301 |
Ellis Van Creveld Syndrome |
|
Abnormal oral mucosa morphology, Micromelia, Epispadias, Conical incisor, Narrow chest, Atrial se... |
ORPHA:289 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Microcephaly, Recurrent lower respiratory tract infections, Perimembranous ventricular septal def... |
OMIM:619170 |
Toxic Epidermal Necrolysis |
|
Weight loss, Abnormal vagina morphology, Conjunctivitis, Entropion |
ORPHA:537 |
Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Mandibular prognathia, Cleft upper lip, Pectus excavatum, Cleft palate, Palmoplantar cutis laxa, ... |
OMIM:268850 |
Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Pes planus, Sandal gap, Tapered finger, Micrognathia, Preaxial hand polydactyly, S... |
OMIM:620072 |
Xeroderma Pigmentosum, Complementation Group A |
|
Entropion, Conjunctivitis, Ectropion |
OMIM:278700 |
Jacobsen Syndrome |
|
Short neck, Abnormal form of the vertebral bodies, Long hallux, Broad columella, Abnormality of t... |
ORPHA:2308 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Delayed skeletal maturation, Mitral valve prola... |
OMIM:601216 |
Nestor-Guillermo Progeria Syndrome |
|
Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Right atrial enlargem... |
OMIM:614008 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Telecanthus, Anteverted nares, Cachexia, Short neck, Sparse eyebrow, D... |
ORPHA:884 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
11 pairs of ribs, Hyperextensibility of the finger joints, Prominent nasal bridge, Micrognathia, ... |
OMIM:618356 |
Morbid Obesity And Spermatogenic Failure |
|
Obesity, Oligozoospermia, Azoospermia, Type II diabetes mellitus, Infertility |
OMIM:615703 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Flat occiput, Depressed nasal bridge, Single transverse palmar crease, Microcephaly, Conductive h... |
OMIM:617412 |
Woolly Hair Nevus |
|
Brachydactyly, Widely-spaced incisors |
ORPHA:79414 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... |
ORPHA:83451 |
Xeroderma Pigmentosum, Complementation Group C |
|
Entropion, Conjunctivitis, Ectropion |
OMIM:278720 |
Barber-Say Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, High palate, Widely spaced teeth,... |
OMIM:209885 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Joint dislocation, Thoracic scoliosis, Equinus calcaneus, Micrognathia, Prominent vei... |
ORPHA:536532 |
Peho Syndrome |
|
Anteverted nares, Tapered finger, Flexion contracture, Limitation of joint mobility, Gingival ove... |
ORPHA:2836 |
Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Abnormal thoracic spine morphology, Abnormal pelvis bone morphology,... |
ORPHA:464329 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, External genital hypoplasia, Micrognathia, Short neck, Ambiguous genital... |
OMIM:249000 |
Degcags Syndrome |
|
Osteopenia, Micrognathia, Prominent nose, Hypotelorism, Premature graying of hair, High palate, A... |
OMIM:619488 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Thickened ribs, Flexion contracture, Increased size of nasopharyngeal adenoids, Abnormal tricuspi... |
ORPHA:217093 |
Kleefstra Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Bicuspid aortic valve, Br... |
ORPHA:261494 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Medial calcification of large arteries, Cardiomegaly, Abnormal retinal arte... |
ORPHA:51608 |
Camptobrachydactyly |
|
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Bresek Syndrome |
|
Aganglionic megacolon, Postaxial hand polydactyly, Hemivertebrae, Cleft palate, Scoliosis, Neonat... |
ORPHA:85284 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Depressed nasal bridge, Micrognathia, 2-3 toe cutaneous syndactyly, Flexion contracture, 3-4 fing... |
OMIM:620029 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... |
ORPHA:50815 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Short neck, Brachycephaly, Anter... |
ORPHA:247262 |
Noonan Syndrome 1 |
|
Micrognathia, Short neck, High, narrow palate, Abnormal sternum morphology, High palate, Atrial s... |
OMIM:163950 |
X-Linked Intellectual Disability, Snyder Type |
|
Unilateral ptosis, Mandibular prognathia, Synophrys, Pectus carinatum, Long toe, Hypospadias, Ara... |
ORPHA:3063 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Micrognathia, Esophageal atresia, Hypoplasia of the radius, Hip dislocatio... |
ORPHA:3412 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Osteopenia, Single transverse palmar crease, Micrognathia, Rectal prolapse, Death in childhood, E... |
OMIM:613177 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Prominent superficial blood vessels, Congenital hip dislocation, Brachycephaly, Hypotelorism, Nar... |
OMIM:219150 |
Genitopatellar Syndrome |
|
Small scrotum, Congenital hip dislocation, Micrognathia, Prominent nose, Knee flexion contracture... |
OMIM:606170 |
Alpha-Mannosidosis, Infantile Form |
|
Mandibular prognathia, Osteopenia, Thickened ribs, Short neck, Brachycephaly, Pectus carinatum, C... |
ORPHA:309282 |
Diamond-Blackfan Anemia 7 |
|
Osteopenia, Small hypothenar eminence, Choanal atresia, Short thumb, Osteoporosis, Cleft palate, ... |
OMIM:612562 |
Craniolenticulosutural Dysplasia |
|
Osteopenia, High palate, Narrow chest, Bifid uvula, Joint laxity, Anteverted nares, Hypertelorism... |
OMIM:607812 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Single transverse palmar crease, Reduced forced expiratory volume in one second, Increased verteb... |
OMIM:613385 |
Native American Myopathy |
|
Joint laxity, Micrognathia, Cryptorchidism, Conductive hearing impairment, Cleft palate, Abnormal... |
ORPHA:168572 |
Bardet-Biedl Syndrome 3 |
|
Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
Mannosidosis, Alpha B, Lysosomal |
|
Mandibular prognathia, Increased vertebral height, Depressed nasal ridge, Gingival overgrowth, Fe... |
OMIM:248500 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Broad ribs, Broad metacarpals, Depressed nasal bridge, Tapered finger, Precocious puberty, Cleft ... |
OMIM:301066 |
Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, Neonatal wrinkled skin of hands and feet, Coxa vara, High... |
OMIM:278250 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Short lingual frenulum, Downturned corners of mouth, Short philtrum, Atrial septal defect, Microd... |
OMIM:617360 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Micrognathia, Epispadias, Preaxial polydactyly, Simplified gyral pattern... |
OMIM:615948 |
Microphthalmia, Isolated 8 |
|
Entropion, Short palpebral fissure |
OMIM:615113 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Thin upper lip vermilion, Hypoplasia of the maxilla, Bulbous nose, Subcortical band heterotopia, ... |
OMIM:618737 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Esophageal varix, Foot oligodactyly, Brachydactyly |
OMIM:616589 |
Lathosterolosis |
|
Toe syndactyly, Anteverted nares, Micrognathia, Lumbosacral meningocele, Postaxial hand polydacty... |
OMIM:607330 |
Fryns Syndrome |
|
Bifid scrotum, Tented upper lip vermilion, Single transverse palmar crease, Proximal placement of... |
OMIM:229850 |
Adenylosuccinate Lyase Deficiency |
|
Prominent metopic ridge, Short nose, Anteverted nares |
ORPHA:46 |
Deeah Syndrome |
|
Prominent nasal tip, Cervical hemivertebrae, Epicanthus, Decreased response to growth hormone sti... |
OMIM:619004 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Joint laxity, Atrial septal defect, Arachnodactyly, Micrognathia, Underdeveloped nasal alae, Hype... |
OMIM:300986 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, High palate, Atrial septal defect, Patent fora... |
ORPHA:457279 |
Hemifacial Microsomia With Radial Defects |
|
Non-midline cleft lip, Cleft palate, Orofacial cleft, Triphalangeal thumb, Short mandibular rami,... |
OMIM:141400 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme... |
OMIM:613810 |
Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Depressed nasal bridge, Single transverse palmar crease, Protruding t... |
OMIM:619777 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Underdeveloped superior crus of antihelix, Micrognathia, Protruding ear, Sprengel anomaly, Microp... |
ORPHA:293967 |
Cranioectodermal Dysplasia 3 |
|
Joint laxity, Sandal gap, Rhizomelia, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, Sa... |
OMIM:614099 |
Joubert Syndrome 14 |
|
Encephalocele, Tented upper lip vermilion, Ventricular septal defect, Prominent nasal bridge, Pos... |
OMIM:614424 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Thick lower lip vermilion, N... |
OMIM:608624 |
Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Single transverse palmar crease, Short philtrum, Clinodactyly of the 5th f... |
ORPHA:1449 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Tapered finger, Broad nasal tip, Submucous clef... |
OMIM:619680 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract, Retinopathy |
OMIM:183800 |
Hamamy Syndrome |
|
Osteopenia, Micrognathia, Brachycephaly, High palate, Clinodactyly of the 5th finger, Atrial sept... |
OMIM:611174 |
Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Bicuspid aortic valve, Delayed eruption of primary teeth, Micrognathia, Hypoplas... |
OMIM:616367 |
Keutel Syndrome |
|
Sinusitis, Cartilaginous ossification of nose, Deep philtrum, Pulmonary artery hypoplasia, Emphys... |
OMIM:245150 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Bowing of the long bones, Choanal atresia, Micrognathia, Hypertelori... |
OMIM:156400 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ... |
OMIM:184100 |
Buratti-Harel Syndrome |
|
Atrial septal defect, Dilation of Virchow-Robin spaces, Broad hallux, Hypospadias, Posteriorly ro... |
OMIM:619314 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Arthropathy, Bicuspid aortic valve, Premature thelarche, Abnormal hand morphology, Os... |
ORPHA:371428 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Short nose, Depressed nasal bridge, Highly arched eyebrow, Ptosis |
ORPHA:438178 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Mandibular prognathia, Sandal gap, Micrognathia, 2-3 toe syndactyly, Small thenar eminence, Joint... |
OMIM:618914 |
Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint... |
OMIM:603543 |
Peters Plus Syndrome |
|
Micromelia, Micrognathia, Short neck, Bicuspid pulmonary valve, Brachycephaly, Abnormal pulmonary... |
ORPHA:709 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Irregular dentition, Single transverse palmar crease, Elbow contracture, Micrognathia, Hypotelori... |
OMIM:615656 |
Paroxysmal Extreme Pain Disorder |
|
Lacrimation abnormality, Mandibular pain |
OMIM:167400 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy |
ORPHA:3156 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Abnormal clavicle morphology, Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasi... |
ORPHA:85165 |
Fg Syndrome 5 |
|
Epicanthus, Depressed nasal bridge, Hypospadias, Anteverted nares, Upslanted palpebral fissure, M... |
OMIM:300581 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Bicuspid aortic valve, Micrognathia, Abnormal curvature of the vertebral column,... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Bicuspid aortic valve, Micrognathia, Abnormal curvature of the vertebral column,... |
ORPHA:353277 |
Down Syndrome |
|
Single transverse palmar crease, Brachycephaly, Hypoplastic iliac wing, Atrial septal defect, Sho... |
OMIM:190685 |
Dent Disease 1 |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Recurrent fractures... |
OMIM:300009 |
Rapp-Hodgkin Syndrome |
|
Conical tooth, Hypoplasia of the maxilla, Anhidrotic ectodermal dysplasia, 2-3 toe cutaneous synd... |
OMIM:129400 |
Alg12-Cdg |
|
Proximal placement of thumb, Micrognathia, Posterior plagiocephaly, Short philtrum, Abnormal bone... |
ORPHA:79324 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Osteopenia, Flat occiput, Short neck, High, narrow palate, Prominent protruding coccyx, Protrudin... |
OMIM:300966 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Flattened metatarsal heads, Osteoarthritis, Platyspondyly, Hip osteoarthritis, Flattened metacarp... |
OMIM:271600 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Cleft upper lip, Micrognathia, Abnormal rib morphology, Cleft palate, Hypoplasia of the uterus, A... |
OMIM:601076 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Scapular winging, Lacrimal duct stenosis, Down-sloping shoulders, Tapered fing... |
OMIM:615560 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract, Retinal dystrophy |
OMIM:610156 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Joint laxity, Hypospadias, Anteverted nares, Depressed nasal bridge, B... |
ORPHA:1465 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Osteopenia, Respiratory distress, Congenital hip dislocation, Prominent nose, Brachycephaly, Abno... |
ORPHA:480880 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ... |
ORPHA:3472 |
Multiple Synostoses Syndrome 4 |
|
Pes planus, Overlapping toe, Tarsal synostosis, Broad foot, Brachydactyly |
OMIM:617898 |
Takenouchi-Kosaki Syndrome |
|
Proximal placement of thumb, Downturned corners of mouth, Abnormal sternum morphology, Short phil... |
OMIM:616737 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Short ... |
OMIM:619750 |
Refsum Disease |
|
Short metacarpal, Sensorineural hearing impairment, Anosmia, Respiratory insufficiency, Cardiomyo... |
ORPHA:773 |
Lathosterolosis |
|
Abnormal thoracic spine morphology, Toe syndactyly, Anteverted nares, Talipes, Micrognathia, Post... |
ORPHA:46059 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Diffuse palmoplantar hyperkeratosis, Acrocyanosis |
ORPHA:86918 |
Chromosome 1P35 Deletion Syndrome |
|
Thin upper lip vermilion, Posteriorly rotated ears, Micrognathia, Microcephaly, Cryptorchidism, H... |
OMIM:617930 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Dolichocephaly, Pectus excavatum, Hypoplasia of t... |
ORPHA:1101 |
Fetal Alcohol Syndrome |
|
Epicanthus, Telecanthus, Anteverted nares, Congenital diaphragmatic hernia, Micrognathia, Joint s... |
ORPHA:1915 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Foot joint contracture, Scarring, Delayed eruption of primary teeth, Crypt... |
ORPHA:90321 |
Pontocerebellar Hypoplasia, Type 2E |
|
Wide nose, Epicanthus, Micrognathia, Flexion contracture, Osteoporosis, Scoliosis, Short nose, Fa... |
OMIM:615851 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Dilated cardiomyopathy, Respiratory insufficiency due to muscle weakness, M... |
OMIM:300580 |
Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, A... |
OMIM:611561 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Wide nose, Tracheomalacia, Micrognathia, Secundum atrial septal defect, Sit... |
OMIM:202650 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Wide nose, Anteverted nares, Abnormal large intestine morphology, Micrognat... |
ORPHA:109 |
Scarf Syndrome |
|
Bifid scrotum, Barrel-shaped chest, Inguinal hernia, Epicanthus, Prominent nasal bridge, Short ne... |
OMIM:312830 |
Choanal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Cyanosis, Craniosynostosis, Upper airway ... |
ORPHA:137914 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Barrel-shaped chest, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widen... |
OMIM:259770 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Hearing impairment, Aplasia/Hypoplasia of the dist... |
ORPHA:1647 |
X Small Rings |
|
Joint laxity, Thin upper lip vermilion, Toe syndactyly, Anteverted nares, Tapered finger, Short n... |
ORPHA:96201 |
Fetal Akinesia Deformation Sequence |
|
Intestinal hypoplasia, Multiple joint contractures, Depressed nasal bridge, Camptodactyly of fing... |
ORPHA:994 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Small for gestational age, Epicanthus, Rhizomelia, Single transverse palmar crease, Decreased res... |
OMIM:614114 |
Distal Deletion 15Q |
|
Flat occiput, Bicuspid aortic valve, Single transverse palmar crease, Micrognathia, 2-3 toe cutan... |
ORPHA:1596 |
Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, Generalized joint laxity, Excessive skin wrinkling on dor... |
ORPHA:2834 |
7Q11.23 Microduplication Syndrome |
|
Short lingual frenulum, Single transverse palmar crease, Micrognathia, Short neck, Hemivertebrae,... |
ORPHA:96121 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Underdeveloped nasal alae, Cleft palate, Short distal phalanx of finger |
OMIM:601355 |
Distal 22Q11.2 Microduplication Syndrome |
|
Mandibular prognathia, Micrognathia, Depressed nasal ridge, Protruding ear, Deeply set eye, High ... |
ORPHA:261337 |
Corneodermatoosseous Syndrome |
|
Abnormal dental enamel morphology, Abnormality of the hand, Carious teeth, Abnormal finger morpho... |
ORPHA:3194 |
Intermediate Uveitis |
|
Cataract, Vitreous haze, Macular scar, Band keratopathy, Epiretinal membrane, Vitreous floaters, ... |
ORPHA:279914 |
Arteriosclerosis, Severe Juvenile |
|
Hip dysplasia, Gastric ulcer, Short phalanx of finger, Dysplasia of second lumbar vertebra |
OMIM:208060 |
20Q13.33 Microdeletion Syndrome |
|
Atrial septal defect, Low-set, posteriorly rotated ears, Hypospadias, Tapered finger, Prominent c... |
ORPHA:261311 |
Ritscher-Schinzel Syndrome 4 |
|
Brachycephaly, Hypotelorism, Deeply set eye, High palate, Short philtrum, Micropenis, Tapered fin... |
OMIM:619435 |
Williams Syndrome |
|
Osteopenia, Hypoplasia of penis, Micrognathia, Abnormal form of the vertebral bodies, Vertebral s... |
ORPHA:904 |
Coffin-Siris Syndrome 1 |
|
Single transverse palmar crease, Conical tooth, Brachycephaly, Prominent interphalangeal joints, ... |
OMIM:135900 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Prominent nose, Microce... |
OMIM:614886 |
Fanconi Anemia, Complementation Group U |
|
Absent thumb, Absent radius, Hypoplasia of the radius, Aplasia of the 1st metacarpal, Absent scap... |
OMIM:617247 |
Faciocardiomelic Syndrome |
|
Osteopenia, Dysharmonic bone age, Anteverted nares, Depressed nasal bridge, Micrognathia, Microce... |
OMIM:612731 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress, Limitation of joint mobility |
ORPHA:2680 |
Fryns Syndrome |
|
Tented upper lip vermilion, Micrognathia, Short neck, Abnormal aortic arch morphology, High palat... |
ORPHA:2059 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Bifid scrotum, Dental crowding, Bicuspid aortic valve, Uplifted earlobe, C... |
ORPHA:261537 |
Arterial Tortuosity Syndrome |
|
Carotid artery dissection, Micrognathia, Flexion contracture, Pectus carinatum, High palate, Bifi... |
OMIM:208050 |
Mucopolysaccharidosis, Type Iiid |
|
Thoracic scoliosis, Thickened ribs, Short neck, Ovoid thoracolumbar vertebrae, Hypoplastic verteb... |
OMIM:252940 |
Congenital Varicella Syndrome |
|
Micromelia |
ORPHA:291 |
Rhiny |
|
Inguinal hernia, Anteverted nares, Short nose |
OMIM:180360 |
Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology, Microcephaly |
ORPHA:2435 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Frontal bossing, Tapered finger, Micrognathia, Microcephaly, Kyphosis, Hypertelorism,... |
ORPHA:2479 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Neonatal respiratory distress, Hydranencephaly, Ventricular septal defect, Trac... |
ORPHA:1393 |
Dahlberg-Borer-Newcomer Syndrome |
|
Brachydactyly, Wide nasal bridge, Short distal phalanx of finger |
ORPHA:1563 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Proximal placement of thumb, Long nose, High palate, Clinodactyly of the 5th finger, Pulmonary ar... |
OMIM:620113 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Rauch-Steindl Syndrome |
|
Attached earlobe, Sacral dimple, Depressed nasal bridge, Miscarriage, Micrognathia, Prominent cru... |
OMIM:619695 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal posterior eye segment morphology, Abnormal corneal epithelium mo... |
ORPHA:67043 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Bifid scrotum, Dental crowding, Bicuspid aortic valve, Uplifted earlobe, C... |
ORPHA:2152 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Lumbar hyperlordosis, Depressed nasal bridge, Ovoid vertebral bodies, Small for gesta... |
OMIM:242900 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Absent radius, Cleft palate, Cleft upper lip |
OMIM:179400 |
Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Micrognathia, Microcephaly, ... |
OMIM:616038 |
Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Platyspondyly, Genu valgum |
OMIM:184095 |
Congenital Heart Defects, Multiple Types, 9 |
|
Miscarriage, Mitral atresia, Aortopulmonary collateral arteries, Pectus excavatum, Arteria lusori... |
OMIM:620294 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Split hand, Vertebral segmentation defect, Foot polydactyly, Phocomelia, Duodenal atresia |
ORPHA:3004 |
Desmosterolosis |
|
Epicanthus, Hypoplastic nasal bridge, Rhizomelia, Anteverted nares, Failure to thrive, Micrognath... |
OMIM:602398 |
Oculoskeletodental Syndrome |
|
Elbow flexion contracture, Wide nasal bridge, Macroglossia, Oligodontia, Abnormal sternum morphol... |
OMIM:618440 |
Oslam Syndrome |
|
Clinodactyly, Radioulnar synostosis, Radial deviation of finger |
OMIM:165660 |
Meier-Gorlin Syndrome 7 |
|
Bowing of the legs, Anteriorly placed anus, Vertebral segmentation defect, High palate, Dislocate... |
OMIM:617063 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Recurrent respiratory infections, Glue ear, Cutis marmorata, Broad nasal tip, Bifid nasal tip, Se... |
OMIM:619758 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the philtrum, Cleft upper lip, Cleft palate, Palmoplantar hyperkeratosis, Cutaneou... |
OMIM:225060 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Joint contracture, Kyphoscoliosis, Microcephaly |
OMIM:617977 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Mandibular prognathia, Epicanthus, Prominent metopic ridge, Palpebral edema, Depressed nasal brid... |
ORPHA:261144 |
Meacham Syndrome |
|
Bicuspid aortic valve, Blind vagina, Death in childhood, Scimitar anomaly, Atrial septal defect, ... |
OMIM:608978 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasia/Hypoplasia of the radius,... |
ORPHA:2476 |
Keppen-Lubinsky Syndrome |
|
Narrow nasal bridge, Lack of facial subcutaneous fat, Decreased serum leptin, Micrognathia, Under... |
OMIM:614098 |
Fucosidosis |
|
Cardiomegaly, Anterior beaking of thoracic vertebrae, Flexion contracture, Anterior beaking of lu... |
OMIM:230000 |
Ablepharon-Macrostomia Syndrome |
|
Ventral hernia, Omphalocele, Short metacarpal, Toe syndactyly, Absent eyebrow, Hypoplasia of eyel... |
OMIM:200110 |
Tatton-Brown-Rahman Syndrome |
|
Mandibular prognathia, Kyphoscoliosis, Hypertelorism, Cryptorchidism, Short toe, Deep philtrum, P... |
ORPHA:404443 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress, Polymicrogyria, Primary microcephaly |
ORPHA:171703 |
Keratosis Pilaris Atrophicans |
|
Absent eyelashes, Epiphora, Sparse eyebrow |
OMIM:604093 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Micrognathia, Hypoplasia of the maxilla, Hemivertebrae, Anotia, Conducti... |
OMIM:164210 |
Progeroid Syndrome, Petty Type |
|
Reduced subcutaneous adipose tissue, Mandibular prognathia, Epicanthus, Failure to thrive, Lipoat... |
ORPHA:2963 |
Microphthalmia, Isolated 4 |
|
Postaxial polydactyly |
OMIM:613094 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Paradoxical respiration, Plantar flexion contracture, Arthrogryposis-like h... |
OMIM:620011 |
Albers-Schönberg Osteopetrosis |
|
Joint dislocation, Osteomyelitis, Recurrent fractures, Carious teeth, Mandibular osteomyelitis, G... |
ORPHA:53 |
Tetrasomy 9P |
|
Joint dislocation, Glue ear, Dental crowding, Micrognathia, Short neck, Downturned corners of mou... |
ORPHA:3310 |
Congenital Disorder Of Deglycosylation 2 |
|
Sacral dimple, Ulnar deviation of the hand, Sandal gap, Genu recurvatum, Hamartoma of tongue, Mic... |
OMIM:619775 |
Brachyolmia, Maroteaux Type |
|
Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis |
ORPHA:93302 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Downturned cor... |
OMIM:620186 |
Distal Deletion 19P |
|
Long toe, Low-set, posteriorly rotated ears, Vaginal hernia, Arachnodactyly, Ventricular septal d... |
ORPHA:96129 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Aplasia of the nasal bone, Micrognathia, Micropenis, Syndactyly, Clitoral hypertrophy, Streak ova... |
OMIM:618820 |
Neonatal Marfan Syndrome |
|
Micrognathia, High, narrow palate, Flexion contracture, Pectus carinatum, Enlarged thorax, Deeply... |
ORPHA:284979 |
Functioning Gonadotropic Adenoma |
|
Osteopenia, Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell ad... |
ORPHA:91348 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Micrognathia, High palate, Emphysema, Prominence of the premaxilla, Arachnodactyly, Depressed nas... |
OMIM:614437 |
Enlarged Parietal Foramina |
|
Craniosynostosis, Cleft lip, Cleft palate, Short clavicles, Broad thumb |
ORPHA:60015 |
Cowden Syndrome 5 |
|
Colonic diverticula, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Kyphosis, Progres... |
OMIM:615108 |
Mend Syndrome |
|
Microretrognathia, Sacral dimple, Overlapping toe, Broad hallux, Prominent nasal bridge, Microgna... |
OMIM:300960 |
3Mc Syndrome 1 |
|
Sacral dimple, Dental crowding, Single interphalangeal crease of fifth finger, Cleft upper lip, C... |
OMIM:257920 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Micrognathia, Cleft upp... |
OMIM:612561 |
Cranioectodermal Dysplasia 4 |
|
Epicanthus, Anteverted nares, Sagittal craniosynostosis, Pectus excavatum, Hip dysplasia, Cutaneo... |
OMIM:614378 |
Dubowitz Syndrome |
|
Single transverse palmar crease, Micrognathia, Protruding ear, High palate, Otitis media, Clinoda... |
OMIM:223370 |
Dermotrichic Syndrome |
|
Blepharophimosis, Depressed nasal bridge, Abnormal vertebral morphology, Short nose |
ORPHA:99688 |
Tetraploidy |
|
Micrognathia, Radial club hand, Cleft palate, Short philtrum, Convex nasal ridge |
ORPHA:3305 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613983 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Telecanthus, Lacrimation abnormality, Prominent nasal bridge, Underd... |
ORPHA:3440 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Dental crowding, Premature graying of hair, High palate, Atrial septal def... |
ORPHA:769 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... |
ORPHA:263479 |
Cowden Syndrome 6 |
|
Colonic diverticula, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Kyphosis, Progres... |
OMIM:615109 |
Ctcf-Related Neurodevelopmental Disorder |
|
Osteopenia, Single transverse palmar crease, Synophrys, Joint contracture of the 5th finger, Clin... |
ORPHA:363611 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
Fumarase Deficiency |
|
Relative macrocephaly, Frontal bossing, Necrotizing enterocolitis, Reduced subcutaneous adipose t... |
OMIM:606812 |
Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Abnormal distal phalanx morphology of finger, Hypoplasia of the premaxilla... |
ORPHA:2673 |
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome |
|
Arthrogryposis multiplex congenita, Limitation of joint mobility, Lacrimation abnormality |
ORPHA:1484 |
Cat-Eye Syndrome |
|
Hip dysplasia, Abnormal rib morphology, Anal atresia |
ORPHA:195 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Mandibular prognathia, Tented upper lip vermilion, Anteverted nares, Single transverse palmar cre... |
OMIM:300912 |
Cataract 3, Multiple Types |
|
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Bifid scrotum, Dental crowding, Bicuspid aortic valve, Uplifted earlobe, C... |
ORPHA:261552 |
Aase-Smith Syndrome I |
|
Death in infancy, Flexion contracture, Cleft palate, Talipes equinovarus, Open mouth, Slender finger |
OMIM:147800 |
Septopreoptic Holoprosencephaly |
|
Microcephaly, Precocious puberty, Perisylvian polymicrogyria, Abnormal rib morphology, Coarctatio... |
ORPHA:280195 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Antever... |
ORPHA:40366 |
Chromosome 3Q29 Duplication Syndrome |
|
Bulbous nose, Wide nasal bridge, Obesity, Multiple palmar creases, Blepharophimosis, Short nose, ... |
OMIM:611936 |
Branchiootic Syndrome |
|
Branchial fistula, Lip pit, Micrognathia, Sensorineural hearing impairment, Abnormality of the in... |
ORPHA:52429 |
Autosomal Recessive Malignant Osteopetrosis |
|
Apnea, Bone pain, Reduced bone mineral density, Narrow chest, Otitis media, Pulmonary artery sten... |
ORPHA:667 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Mandibular prognathia, Hypertelorism, Cryptorchidism, Wide nasal bridge, Genu valgum, Protruding ... |
ORPHA:1778 |
Joubert Syndrome 7 |
|
Encephalocele, Central apnea, Episodic tachypnea, Postaxial polydactyly, Postaxial hand polydacty... |
OMIM:611560 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Hearing impairment, Micrognathia, Hypoplasia of the maxilla, Broad nasal t... |
OMIM:620157 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Reduced forced vital capacity, Kyphosis, Achilles tendon contrac... |
OMIM:607155 |
Tolchin-Le Caignec Syndrome |
|
Abnormal vestibular function, Arachnodactyly, Prominent nose, Micrognathia, Precocious puberty, H... |
OMIM:618971 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Paroxysmal Hemicrania |
|
Stiff neck, Palpebral edema, Diabetes mellitus, Focal sensory seizure with olfactory features, Rh... |
ORPHA:157835 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Tented upper lip vermilion, Small scrotum, Micrognathia, Short neck, Widely-spaced maxillary cent... |
OMIM:309580 |
Fanconi Anemia, Complementation Group F |
|
Sacral dimple, Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Duoden... |
OMIM:603467 |
Amish Lethal Microcephaly |
|
Death in infancy, Cleft soft palate, Spina bifida, Micrognathia, Microcephaly, Limitation of join... |
ORPHA:99742 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Mixed hearing impairment, Short neck, Sensorineural hearing impairment, Abnormal rib morphology, ... |
OMIM:118100 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Inguinal hernia, Epicanthus, Unilateral cryptorchidism, Anterior pituitary hypoplasia, Depressed ... |
OMIM:613457 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Pes planus, Cleft upper lip, Pectus excavatum, Anosmia, Cleft palate, Finger joint hypermobility,... |
OMIM:244200 |
Acrocardiofacial Syndrome |
|
Joint dislocation, Hypoplasia of penis, Atrial septal defect, Finger syndactyly, Death in infancy... |
ORPHA:2008 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Lumbar hyperlordosis, Microcephaly, Spinal rigidity, Dyspnea, Cardiomyopath... |
ORPHA:86812 |
3Q29 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Craniosynostosis, Abnormality of the dentition, Short neck, Deep phil... |
ORPHA:251038 |
Distal Deletion 3P |
|
Micrognathia, Short neck, Brachycephaly, Downturned corners of mouth, High palate, Clinodactyly o... |
ORPHA:1620 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Clubbing, ... |
OMIM:610913 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Depressed nasal bridge, Hamartoma of tongue, Aplastic clavicle, Accessory oral frenulum, Postaxia... |
OMIM:616546 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Joint laxity, Exaggerated cupid's bow, Overlapping toe, Single transverse palmar crease... |
ORPHA:254528 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Microcephaly, Hypoplasia of the maxilla, Brachycephaly, Macrotia, Decrease... |
ORPHA:93950 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Wide nasal bridge, Increased carrying angle, Brachydactyly |
OMIM:247410 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Short palm, Wide nose, Depressed nasal bridge, Micromelia, Cleft upper lip, Micrognathia, Esophag... |
ORPHA:93271 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Umbilical hernia, Pneumonia, Death in infancy |
OMIM:254120 |
Noonan Syndrome 4 |
|
Short neck, Abnormal sternum morphology, Thickened helices, Atrial septal defect, Depressed nasal... |
OMIM:610733 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Wide nose, Short lingual frenulum, Craniosynostosis, Broad nasal tip, Aplasia/Hypopla... |
ORPHA:1521 |
Focal Dermal Hypoplasia |
|
Abnormal palmar dermatoglyphics, Finger syndactyly, Abnormal dental morphology, Abnormal dental e... |
ORPHA:2092 |
Aniridia 3 |
|
Aniridia, Cataract |
OMIM:617142 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia... |
ORPHA:306542 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Frontal bossing, Thoracic scoliosis, Ventricular septal defect, Postaxial polydactyly, Kyphosis, ... |
OMIM:603387 |
Micro Syndrome |
|
Hypoplasia of penis, Anteverted nares, Micrognathia, Joint stiffness, Cryptorchidism, Hypoplastic... |
ORPHA:2510 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Ventricular septal defect, Abnormal dental enamel m... |
ORPHA:1071 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Anal stenosis, Anteverted nares, Depressed nasal bridge, Micrognathia, Short nose, Cleft palate, ... |
OMIM:614080 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Congenital hip dislocation, Limb joint contracture, Small for gestational age, Coxa valga, Lagoph... |
ORPHA:404454 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Cough, A... |
ORPHA:70589 |
Singleton-Merten Syndrome 1 |
|
Osteopenia, Hypoplastic distal radial epiphyses, Cardiomegaly, Hypoplasia of the maxilla, Eruptio... |
OMIM:182250 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Ventricular septal defect, Microcephaly, Cryptorchidism, Postaxial hand pol... |
ORPHA:2519 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla, Short distal phalanx of finger |
OMIM:300266 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse eyebrow, Delayed skeletal maturation, Lacrimation abnormality, Hypothyroidism |
ORPHA:1882 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Desquamative interstit... |
OMIM:265120 |
Camptodactyly, Tall Stature, And Hearing Loss Syndrome |
|
Arachnodactyly, Pectus excavatum, Increased vertebral height, High palate, Scoliosis, Camptodacty... |
OMIM:610474 |
Acrofacial Dysostosis, Cincinnati Type |
|
Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Patent ductus arteriosus,... |
OMIM:616462 |
Warburg Micro Syndrome 2 |
|
Small scrotum, Overlapping toe, Prominent nasal bridge, Cryptorchidism, Flexion contracture, Shor... |
OMIM:614225 |
Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Epicanthus, Telecanthus, Hypospadias, Anteverted nares, Blepharophimos... |
ORPHA:3339 |
Nasolacrimal Duct Cyst |
|
Chronic irritative conjunctivitis, Abnormal lacrimal sac morphology, Dacryocystitis, Ectropion of... |
ORPHA:141083 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Accelerated skeletal maturation, Precocious puberty, Long penis, Oligozoospermi... |
ORPHA:3000 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hypoplasia of the radius, Rectal atresia, Perineal fistula, Rectovaginal fistula, Ectrodactyly, O... |
ORPHA:3016 |
Hereditary Bullous Dystrophy, Macular Type |
|
Turricephaly, External genital hypoplasia, Pneumonia, Microcephaly, Tapered finger, Cryptorchidis... |
ORPHA:1867 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Joint laxity, Thin upper lip vermilion, Lumbar hyperlordosis, Progressive flexion contractures, E... |
ORPHA:522077 |
Adams-Oliver Syndrome |
|
Finger syndactyly, Brachydactyly, Talipes, Abnormality of the lower limb, Absent toe, Split hand,... |
ORPHA:974 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal clavicle morphology, Abnormal dental morphology, Abnormal dental enamel morphology, Apla... |
ORPHA:85199 |
Bardet-Biedl Syndrome 22 |
|
Microcephaly, Postaxial foot polydactyly, Polydactyly, Hypogonadism, Macrocephaly |
OMIM:617119 |
Oslam Syndrome |
|
Carious teeth, Radioulnar synostosis, Clinodactyly of the 5th finger |
ORPHA:2760 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Anteverted nares, Posteriorly rotated ears, Abnormal pinna morphology, Hypopla... |
ORPHA:228396 |
Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c... |
OMIM:612109 |
Burn-Mckeown Syndrome |
|
Prominent nasal bridge, Wide nasal bridge, Short nose, Short palpebral fissure, Bilateral choanal... |
ORPHA:1200 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, Pectus ca... |
OMIM:613795 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Flat occiput, Single transverse palmar crease, Anterior concavity of ... |
OMIM:216340 |
Brittle Cornea Syndrome |
|
Hallux valgus, Pes planus, Arachnodactyly, Abnormality of the dentition, Osteoporosis, Cleft pala... |
ORPHA:90354 |
Lambotte Syndrome |
|
Ventricular septal defect, Microcephaly, Hypertelorism, Macrotia, Atresia of the external auditor... |
OMIM:245552 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Micrognathia, Microcephaly, Submucous cleft hard ... |
ORPHA:2521 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Cyanosis, Progressive microcephaly |
ORPHA:71277 |
Pentalogy Of Cantrell |
|
Talipes, Non-midline cleft lip, Split hand, Abnormal tibia morphology, Cleft palate, Orofacial cl... |
ORPHA:1335 |
Orofaciodigital Syndrome Iii |
|
Hypertelorism, Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Supernumerary tooth, Bulbo... |
OMIM:258850 |
Biemond Syndrome Type 2 |
|
Preaxial polydactyly, Short stature, Delayed puberty |
ORPHA:141333 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Cleft soft palate, Uplifted earlobe, Secundum atrial septal defect, Pie... |
OMIM:620183 |
8P11.2 Deletion Syndrome |
|
Hypoplasia of penis, Sacral dimple, Depressed nasal bridge, Hypogonadotropic hypogonadism, Microg... |
ORPHA:251066 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Anteverted nares, Underdeveloped nasal alae, Glossoptosis, Clinodactyly of the 5th finger, Short ... |
ORPHA:2031 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Death in infancy, Ventricular septal defect, Abnormal cortical gyration, Postaxial polydactyly, M... |
OMIM:614576 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Death in infancy, Tented upper lip vermilion, Aganglionic megacolon, Anteverted nares, Abnormalit... |
ORPHA:847 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Gomez-Lopez-Hernandez Syndrome |
|
Anteverted nares, Decreased response to growth hormone stimulation test, Craniosynostosis, Wide a... |
OMIM:601853 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Abnormality of the hand, Underdeveloped nasal alae, Microcephaly, Cryp... |
OMIM:192430 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Protruding ear, Deeply set eye, Clinodactyly of the 5th finger, Micr... |
ORPHA:464306 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Epicanthus, Wide nose, Hypospadias, Anteverted nares, Depressed nasal bridge, Shor... |
OMIM:257300 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Depressed nasal bridge, Delayed epiphyseal ossification, Macroglossia, Abno... |
ORPHA:226313 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles, Primary amenorrhea, Ambiguous genitalia, Cl... |
OMIM:264270 |
Orthostatic Hypotension 1 |
|
Nasal congestion, High palate, Joint hypermobility, Brachydactyly |
OMIM:223360 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Short neck, Abnormal rib morphology, Azoospermia, Vertebral segmentation defect, Bicornuate uteru... |
ORPHA:2578 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Conductive hearin... |
ORPHA:199306 |
Kagami-Ogata Syndrome |
|
Pursed lips, Anteverted nares, Depressed nasal bridge, Kyphoscoliosis, Micrognathia, Coxa valga, ... |
ORPHA:254519 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Mandibular prognathia, Death in infancy, Thoracic scoliosis, Respiratory distress, Cerebral hemor... |
OMIM:620278 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Joint dislocation, Dental crowding, Genu recurvatum, Calcaneovalgus deformity, Absent phalangeal ... |
ORPHA:230851 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Tongue fasciculations, Respiratory insufficiency |
ORPHA:238329 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Hyperteloris... |
OMIM:137550 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Bifid scrotum, Flat occiput, Epispadias, Depressed nasal ridge, Brachycephaly, Pachygyria, Enceph... |
ORPHA:2211 |
Cowden Syndrome 1 |
|
Colonic diverticula, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Kyphosis, Progres... |
OMIM:158350 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal... |
ORPHA:2438 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Craniosynostosis, Micromelia, Short neck, Postaxial hand polydactyly, Hypoplas... |
OMIM:200995 |
Muenke Syndrome |
|
Tarsal synostosis, Hypertelorism, High, narrow palate, Sensorineural hearing impairment, Brachyce... |
ORPHA:53271 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Flat occiput, Micrognathia, Short neck, High palate, Narrow chest, Protein-losing enteropathy, Ab... |
ORPHA:1655 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Micrognathia, Abnormality of the gingiva, Osteopathia striata, Widely spaced teeth, Pachygyria, H... |
ORPHA:513456 |
Congenital Fibrinogen Deficiency |
|
Cyanosis, Hemorrhagic ovarian cyst, Micropenis, Clubbing of fingers, Gingival bleeding, Left vent... |
ORPHA:335 |
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
|
Down-sloping shoulders, Micrognathia, Short neck, Long fingers, 2-3 toe cutaneous syndactyly, Lon... |
OMIM:301091 |
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Anteverted nares, Supernumerary nipple, Tapered finger, Highly arched eyebrow, Cryptorchidism, Sh... |
OMIM:616728 |
Leopard Syndrome 1 |
|
Mandibular prognathia, Limited elbow movement, Short neck, Depressed nasal ridge, Pectus carinatu... |
OMIM:151100 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose, Small for gestational age |
OMIM:245570 |
Kindler Epidermolysis Bullosa |
|
Flexion contracture, Gingivitis, Inflammation of the large intestine, Colitis, Periodontitis, Sho... |
ORPHA:2908 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Brachycephaly, Hypotelorism, Hyp... |
OMIM:619512 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Micrognathia, Prominent nose, Long nose, Atrial septal defect, Clinodactyly of the 5th finger, At... |
ORPHA:3047 |
Cohen-Gibson Syndrome |
|
Osteopenia, Accelerated skeletal maturation, Flexion contracture, Long ear, Hypoplastic iliac win... |
OMIM:617561 |
Deafness, Conductive, With Malformed External Ear |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Hypogonadism, Low-set ears, Co... |
OMIM:221300 |
Pseudotrisomy 13 Syndrome |
|
Hemivertebrae, Hypotelorism, Atrial septal defect, Micropenis, Encephalocele, Cleft upper lip, Cr... |
OMIM:264480 |
Histidinuria Due To A Renal Tubular Defect |
|
Sensorineural hearing impairment, Macrotia, Short middle phalanx of finger, Rounded middle phalan... |
OMIM:235830 |
8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Wide nose, Hypoplasia of penis, Exaggerated cupid's bow, Camptodactyly of fing... |
ORPHA:284160 |
Johnson Neuroectodermal Syndrome |
|
Choanal atresia, Microcephaly, Carious teeth, Preaxial hand polydactyly, Bulbous nose, Anosmia, C... |
ORPHA:2316 |
Hereditary Acrokeratotic Poikiloderma |
|
Xerostomia, Palmoplantar hyperkeratosis, Gingivitis, Finger syndactyly, Open bite, Abnormal rib m... |
ORPHA:2907 |
Hyperostosis Cranialis Interna |
|
Anosmia, Epiphora, Calvarial hyperostosis, Osteosclerosis of the base of the skull, Hyposmia, Hyp... |
OMIM:144755 |
Lacrimoauriculodentodigital Syndrome 3 |
|
Absent lacrimal punctum, Epicanthus, Absent eyelashes, Short thumb, Partial duplication of thumb ... |
OMIM:620193 |
Joubert Syndrome With Ocular Defect |
|
Aganglionic megacolon, Anteverted nares, Prominent nasal bridge, Cleft palate, Orofacial cleft, H... |
ORPHA:220493 |
Opitz Gbbb Syndrome |
|
Bifid scrotum, Micrognathia, Vertebral segmentation defect, High palate, Atrial septal defect, Pa... |
ORPHA:2745 |
Loeys-Dietz Syndrome 6 |
|
Arachnodactyly, Knee osteoarthritis, Scoliosis, Hip osteoarthritis, Intervertebral disc degeneration |
OMIM:619656 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Delayed eruption of teeth, Epiphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Microm... |
ORPHA:1675 |
Coffin-Siris Syndrome 4 |
|
Narrow nasal bridge, Thin upper lip vermilion, Everted upper lip vermilion, Wide nose, Anteverted... |
OMIM:614609 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Acroosteolysis of distal phalanges (feet), Micrognathia, Flexion contracture, Narrow ... |
OMIM:248370 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, High, narrow palate, Descending thoracic aorta aneurysm, Abn... |
ORPHA:91387 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Joint dislocation, Generalized joint laxity, Brachycephaly, Protruding ear, High palate, Atrial s... |
OMIM:601776 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Cerebellofaciodental Syndrome |
|
Single transverse palmar crease, Short neck, Tapered finger, Cryptorchidism, Sparse eyebrow, Dela... |
OMIM:616202 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Thin upper lip vermilion, Recurrent respiratory infections, Depressed nasal bridge, Single transv... |
ORPHA:466950 |
Gapo Syndrome |
|
Epicanthus, Sparse eyelashes, Anteverted nares, Depressed nasal bridge, Micrognathia, Sparse eyeb... |
OMIM:230740 |
Fanconi Anemia, Complementation Group B |
|
Death in infancy, Absent thumb, Short neck, Esophageal atresia, Tracheoesophageal fistula, Bilate... |
OMIM:300514 |
Lacrimoauriculodentodigital Syndrome 2 |
|
Absent lacrimal punctum, Duplication of thumb phalanx, Abnormal thumb morphology, Carious teeth, ... |
OMIM:620192 |
Mend Syndrome |
|
Micrognathia, High palate, Abnormal nasal bridge morphology, Broad hallux, Asymmetry of the mouth... |
ORPHA:401973 |
Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Abnormality of the stapes, External ear malformation, Conductive hearing impairment, Aplasia/Hypo... |
ORPHA:3232 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Abnormality of the ankle, Carpal s... |
ORPHA:2010 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Flat occiput, Intestinal malrotation, Micrognathia, Short neck, Hypertelorism, Patent ductus arte... |
ORPHA:2001 |
Gyrate Atrophy Of Choroid And Retina |
|
Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Sub... |
ORPHA:414 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Arachnodactyly, Anteverted nares, Depressed nasal bridge, Abnormal thumb morphology, Limitation o... |
ORPHA:2719 |
Limb Body Wall Complex |
|
Cutaneous finger syndactyly, Aplasia of the proximal phalanges of the hand, Spina bifida occulta,... |
ORPHA:2369 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased serum estradiol, Streak ovary, Premature ovarian insufficiency, Duplicated lacrimal pun... |
ORPHA:572333 |
White-Kernohan Syndrome |
|
Synophrys, Broad medial eyebrow, Epicanthus inversus, Hypothyroidism, Joint laxity, Anteverted na... |
OMIM:619426 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor |
OMIM:619649 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Micrognathia, Situs inversus totalis, Upper airway obstruction, High palate... |
OMIM:612776 |
Carey-Fineman-Ziter Syndrome 1 |
|
Anteverted nares, Depressed nasal bridge, Tapered finger, Micrognathia, Spinal rigidity, Broad na... |
OMIM:254940 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress, Achilles tendon contracture, Sensorineural hearing impairment, Shoulder gir... |
ORPHA:2596 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Kyphoscoliosis |
OMIM:619099 |
Donnai-Barrow Syndrome |
|
Omphalocele, Depressed nasal bridge, Congenital diaphragmatic hernia, Wide anterior fontanel, Bic... |
ORPHA:2143 |
Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Gonadal calcification, Oxygen desaturation on exertio... |
ORPHA:60025 |
Phosphoserine Aminotransferase Deficiency |
|
Cyanotic episode, Death in infancy, Secondary microcephaly, Apnea |
OMIM:610992 |
Keratoendotheliitis Fugax Hereditaria |
|
Conjunctival hyperemia, Epiphora |
OMIM:148200 |
Facial Paresis, Hereditary Congenital, 3 |
|
Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Short nose, D... |
OMIM:614744 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Single transverse palmar crease, Talipes, Flexion contracture, Limb undergrowth, Pes cavus |
ORPHA:79243 |
Anonychia-Ectrodactyly |
|
Ectodermal dysplasia, Split hand, Aplasia of metacarpal bones |
OMIM:106900 |
Congenital Gerbode Defect |
|
Ventricular septal defect, Ankle swelling, Crackles, Dyspnea, Right atrial enlargement, Pulmonary... |
ORPHA:99095 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Depressed nasal bridge, Downturned corners of mouth, Everted lower lip vermilion, Widely spaced t... |
OMIM:617865 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Telecanthus, Inguinal hernia, Anteverted nares, Micrognathia, Broad nasal tip, Wide anterior font... |
OMIM:618548 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My... |
OMIM:152950 |
Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis, Intestinal malrotation, Dextrocardia, Mitral atresia, Situs inversus totalis, Common at... |
OMIM:616749 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu... |
OMIM:619773 |
Tetrasomy 15Q26 |
|
Microretrognathia, Arachnodactyly, Kyphoscoliosis, Hypertelorism, Patent ductus arteriosus, Hypop... |
OMIM:614846 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Congenital hip dislocation, Generalized joint laxity, Prominent veins on trunk, High palate, Emph... |
ORPHA:357074 |
Pierson Syndrome |
|
Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya... |
OMIM:609049 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Depressed nasal bridge, Posteriorly rotated ears, Micrognathia, Pectus excavatum, Long fingers, M... |
OMIM:156610 |
Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Camptodactyly of finger, Osteomalacia, Wrist swelling, Cryptorchidism, Kyphosi... |
OMIM:309000 |
Joubert Syndrome 16 |
|
Encephalocele, Polydactyly |
OMIM:614465 |
Nephrotic Syndrome, Type 11 |
|
Arachnodactyly, Micrognathia, Cleft lip, Partial duplication of thumb phalanx, Cleft palate, High... |
OMIM:616730 |
Cleft Velum |
|
Cleft soft palate, Hypoplasia of the maxilla, Velopharyngeal insufficiency, Recurrent otitis medi... |
ORPHA:99772 |
Say-Barber-Miller Syndrome |
|
Micrognathia, Patellar hypoplasia, Knee flexion contracture, Protruding ear, Deeply set eye, High... |
ORPHA:3132 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Clinodactyly, Brachydactyly |
OMIM:618048 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Marfan Syndrome |
|
Osteopenia, Dental crowding, Limited elbow movement, Micrognathia, High, narrow palate, Pectus ca... |
ORPHA:558 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... |
OMIM:610978 |
Mucopolysaccharidosis Type 2 |
|
Irregularity of vertebral bodies, Abnormal tricuspid valve morphology, Conductive hearing impairm... |
ORPHA:580 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Short fourth metatarsal, Single transverse palmar crease, Uplifted earlobe... |
OMIM:619841 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
Lethal Congenital Contracture Syndrome 9 |
|
Micrognathia, Flexion contracture, Congenital contracture, Wrist flexion contracture, Elbow exten... |
OMIM:616503 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver... |
OMIM:184400 |
Alg8-Cdg |
|
Macroglossia, Brachydactyly, Talipes equinovarus, Camptodactyly |
ORPHA:79325 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Meacham Syndrome |
|
Hypoplasia of penis, Abnormal lung lobation, Conotruncal defect, Abnormal fallopian tube morpholo... |
ORPHA:3097 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Recurrent respiratory infections, Tongue atrophy, Respiratory distress, Resp... |
OMIM:211530 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Single transverse palmar crease, Long nose, Clinodactyly of the 5th finger, Hypospadias, Antevert... |
OMIM:619522 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Protruding ear, Wide nasal bridge, Microcephaly |
OMIM:618302 |
Poems Syndrome |
|
Sclerosis of hand bone, Sclerosis of foot bone, Metaphyseal sclerosis, Pericardial effusion, Resp... |
ORPHA:2905 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Barrel-shaped chest, Metaphyseal dysplasia, Lumbar hyperlordosis, Kyphoscoliosis, Short iliac bon... |
OMIM:607944 |
Fetal Valproate Spectrum Disorder |
|
Omphalocele, Epicanthus, Depressed nasal ridge, Short nose |
ORPHA:1906 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Osteoporosis |
ORPHA:2786 |
Kabuki Syndrome |
|
Abnormal dental morphology, Lip pit, Abnormality of the dentition, Vertebral clefting, Small hand... |
ORPHA:2322 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Osteopenia, Cyanosis, Short lingual frenulum, Hypogonadotropic hypogonadism, Partial anosmia, Tot... |
ORPHA:2326 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Increased circulating osteocalcin level, Osteomalacia, Decreased circulating parathyroid hormone ... |
ORPHA:157215 |
Farber Disease |
|
Respiratory distress, Abnormality of the knee, CNS foam cells, Abnormality of the hand, Nodular p... |
ORPHA:333 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Hypertrophic cardiomyopathy, Cyanosis |
ORPHA:91130 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Noonan Syndrome 2 |
|
Micrognathia, Short neck, Pectus carinatum, Abnormal sternum morphology, High palate, Atrial sept... |
OMIM:605275 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Joint laxity, Neonatal insulin-dependent diabetes mellitus, Micrognathia, Precocious puberty, Cry... |
ORPHA:96191 |
3Mc Syndrome 3 |
|
Bifid scrotum, Sacral dimple, Abnormal pinna morphology, Cleft upper lip, Hypertelorism, Cryptorc... |
OMIM:248340 |
Hypophosphatasia, Adult |
|
Arthropathy, Recurrent fractures, Osteomalacia, Carious teeth, Rickets, Increased susceptibility ... |
OMIM:146300 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Thin upper lip vermilion, Toe syndactyly, Bulbous nose, Hypoplasia of the radius, Wide nasal brid... |
ORPHA:140952 |
1Q41Q42 Microdeletion Syndrome |
|
Frontal bossing, Depressed nasal bridge, Hypergonadotropic hypogonadism, Underdeveloped nasal ala... |
ORPHA:250999 |
Laurence-Moon Syndrome |
|
Short stature, Polydactyly, Abnormality of the hand |
OMIM:245800 |
Khan-Khan-Katsanis Syndrome |
|
Sacral dimple, Tented upper lip vermilion, Postaxial polydactyly, Micrognathia, Triangular mouth,... |
OMIM:618460 |
Galloway-Mowat Syndrome |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Hiatus hernia, Abnormality of t... |
ORPHA:2065 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Cyanosis, Lung abscess, Pneumonia, Dyspnea, Clubbing, Intraalve... |
OMIM:610910 |
Congenital Myopathy 17 |
|
Mandibular prognathia, Tented upper lip vermilion, Overlapping toe, Tapered finger, Pectus excava... |
OMIM:618975 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormal morphology of the radius, Median cleft lip, Radial club hand, Cleft palate |
ORPHA:2165 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Anal stenosis, Hypospadias, Hypertelorism, Hypoplasia of the maxilla, Cryp... |
OMIM:601499 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Nephronophthisis 15 |
|
Polydactyly |
OMIM:614845 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Dental crowding, Micromelia, Proximal placement of thumb, Micrognat... |
OMIM:270400 |
Dend Syndrome |
|
Anteverted nares, Downturned corners of mouth, Long philtrum, Clinodactyly of the 4th finger, Sho... |
ORPHA:79134 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Persistent open anterior fontanelle, Single transverse palmar crease, Micrognathia, High palate, ... |
OMIM:614866 |
Pleural Mesothelioma |
|
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal thorax morphology, Abnormal l... |
ORPHA:50251 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Arthropathy, Abnormal metacarpophalangeal joint morphology, Diabetes mellitus, Hypogonadotropic h... |
ORPHA:465508 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Osteopenia, Respiratory distress, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot,... |
OMIM:271225 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Cardiomyopathy, Intrauterine growth retardation, Microcephaly |
ORPHA:26792 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Prominent nasal bridge, Broad nasal tip, Long nose, Tooth malposition, Limb undergrowth, Clinodac... |
OMIM:616541 |
Trichohepatoneurodevelopmental Syndrome |
|
Dental crowding, Downturned corners of mouth, High palate, Widely spaced teeth, Narrow chest, Mic... |
OMIM:618268 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Tented upper lip vermilion, Micrognathia, High, narrow palate, Abnormal lung lobation... |
ORPHA:369837 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Micrognathia, Brachycephaly, Protruding ear, High palate, Short philtrum, ... |
OMIM:309500 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Respiratory distress, Aplasia/Hypoplasia involving the nose, H... |
ORPHA:990 |
Spondyloocular Syndrome |
|
Long toe, Osteopenia, Arachnodactyly, Unilateral cryptorchidism, Femur fracture, Overlapping toe,... |
OMIM:605822 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Sparse eyelashes, Carious teeth, Osteoporosis, Nasolacrimal duct obstruction, Palmoplantar hyperk... |
OMIM:224230 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam... |
OMIM:606842 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Ventricular septal defect, Choanal atresia, Posteriorly rotated ears, Micro... |
OMIM:613309 |
Bohring-Opitz Syndrome |
|
Joint dislocation, Apnea, Micrognathia, Cardiomegaly, Congenital contracture, Prominent palatine ... |
ORPHA:97297 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Mandibular prognathia, Frontal bossing, Camptodactyly of finger, Lip pit, Tapered finger, Microce... |
ORPHA:1236 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short neck, Hemivertebrae, Brachycephaly, Contracture of the proximal interphalangeal joint of th... |
OMIM:618223 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Micrognathia, Hypotelorism, Deeply set eye, High palate, Clinodactyly of the 5th finger, Patent f... |
OMIM:616975 |
Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Prominent nasal bridge, Micrognathia, Short n... |
ORPHA:1587 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Cataract 6, Multiple Types |
|
Posterior polar cataract, Choroideremia, Developmental cataract |
OMIM:116600 |
Digeorge Syndrome |
|
Micrognathia, High, narrow palate, High palate, Short philtrum, Bifid uvula, Hypertelorism, Atele... |
OMIM:188400 |
Graft Versus Host Disease |
|
Dupuytren contracture, Fasciitis, Lipodystrophy, Limited elbow movement, Trismus, Limited shoulde... |
ORPHA:39812 |
Congenital Tracheomalacia |
|
Apnea, Cardiomegaly, Decreased peak expiratory flow, Cough, Atrial septal defect, Emphysema, Sing... |
ORPHA:95430 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Mixed hearing impairment, Posteriorly rotated ears, Micrognathia, Sensorine... |
OMIM:606164 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Dyskeratosis Congenita |
|
Hypoplasia of the maxilla, Premature graying of hair, Periodontitis, Intrauterine growth retardat... |
ORPHA:1775 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Radial bowing |
OMIM:617993 |
Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Aganglionic megacolon, Tarsal synostosis, Postaxial hand polydactyly, Cleft pa... |
ORPHA:2473 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Epicanthus, Telecanthus, Almond-shaped palpebral fissure, Bulbous nose, Wide nasal bridge, Short ... |
OMIM:620292 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Depressed nasal bridge, Ventricular septal defect, Hypospadias, Microcepha... |
OMIM:619103 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Avascular necrosis of the capital femoral epiphysis, Cryptorchidism, Osteoporosis, Epiphora |
OMIM:613990 |
Bartsocas-Papas Syndrome 2 |
|
2-5 finger cutaneous syndactyly, Micrognathia, Wide anterior fontanel, Small hand, Antecubital pt... |
OMIM:619339 |
Lead Poisoning |
|
Delayed eruption of teeth, Decreased female libido, Small for gestational age, Abnormality of the... |
ORPHA:330015 |
Okamoto Syndrome |
|
Tented upper lip vermilion, Primum atrial septal defect, Downturned corners of mouth, Exaggerated... |
ORPHA:2729 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger... |
ORPHA:464 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
Cinca Syndrome |
|
Reduced bone mineral density, Brachydactyly |
ORPHA:1451 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Bowing of the legs, Rickets, Bone pain, Tooth abscess |
ORPHA:89937 |
Classical Ehlers-Danlos Syndrome |
|
Osteopenia, Abnormality of the temporomandibular joint, Osteoarthritis, Generalized joint laxity,... |
ORPHA:287 |
Donnai-Barrow Syndrome |
|
Depressed nasal bridge, Intestinal malrotation, Ventricular septal defect, Broad nasal tip, Hyper... |
OMIM:222448 |
Gm1-Gangliosidosis, Type Iii |
|
Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypo... |
OMIM:230650 |
Acute Interstitial Pneumonia |
|
Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackle... |
ORPHA:79126 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... |
OMIM:263000 |
Gm1-Gangliosidosis, Type I |
|
Beaking of vertebral bodies, Frontal bossing, Death in infancy, Thickened ribs, Abnormal heart va... |
OMIM:230500 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... |
OMIM:203500 |
Poikiloderma With Neutropenia |
|
Joint laxity, Depressed nasal bridge, Micrognathia, Sparse eyebrow, Underdeveloped nasal alae, Ca... |
OMIM:604173 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Osteopenia, High-frequency sensorineural hearing impairment, Mixed hearing impairment, Cleft soft... |
OMIM:614557 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Tented upper lip vermilion, Proximal placement of thumb, Flexion contracture, Downturned corners ... |
ORPHA:487796 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint dislocation, Inguinal hernia, Congenital hip dislocation, Arachnodactyly, Protr... |
OMIM:225400 |
Episodic Ataxia Type 1 |
|
Respiratory distress, Kyphoscoliosis, Vertigo, Scoliosis, Hand clenching |
ORPHA:37612 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Cyanosis, Overlapping toe, Ventricular septal defect, Microcephaly, Partial ano... |
OMIM:617478 |
Hydroa Vacciniforme |
|
Scarring, Epiphora |
ORPHA:330058 |
Holoprosencephaly 13, X-Linked |
|
Micrognathia, Aplasia of the nose, Thoracic hemivertebrae, Patent foramen ovale, Median cleft pal... |
OMIM:301043 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy, Sensorineural hearing impairment, Left ventricular hypert... |
OMIM:616974 |
Hennekam Syndrome |
|
Abnormal oral mucosa morphology, Short philtrum, Narrow chest, Conductive hearing impairment, Pac... |
ORPHA:2136 |
Branchiootorenal Syndrome 1 |
|
Congenital hip dislocation, Lacrimation abnormality, Lacrimal duct stenosis, Lacrimal duct aplasi... |
OMIM:113650 |
Criss-Cross Heart |
|
Cyanosis, Ventricular septal defect, Tricuspid stenosis, Abnormal thorax morphology, Respiratory ... |
ORPHA:1461 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Cyanosis, Ventricular septal defect, Patent ductus arteriosus, ... |
ORPHA:99050 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
Cebalid Syndrome |
|
Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, Congenital diaphragmatic hernia,... |
OMIM:618774 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
Joubert Syndrome With Renal Defect |
|
Aganglionic megacolon, Anteverted nares, Prominent nasal bridge, Cleft palate, Orofacial cleft, H... |
ORPHA:220497 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of penis, Micrognathia, Abnormal lung lobation, Orofacial cleft, Hypotelorism, Absent ... |
ORPHA:2166 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Duodenal ulcer, Malabsorption, Steatorrhea, Short palm, Brachydactyly |
ORPHA:3217 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Single transverse palmar crease, Posteriorly rotated ears, Broad nasal tip, Prot... |
OMIM:618106 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Atrial septal defect, Hypoplastic tricuspid valve, Patent foramen ovale, Patent ductus arteriosus... |
OMIM:600001 |
X-Linked Intellectual Disability, Nascimento Type |
|
Deep philtrum, Downturned corners of mouth, Micropenis, Patent foramen ovale, Depressed nasal bri... |
ORPHA:163956 |
Radial Aplasia, X-Linked |
|
Absent radius, Anal atresia |
OMIM:312190 |
Sunct Syndrome |
|
Palpebral edema, Nasal congestion, Increased tear production, Conjunctival hyperemia, Epiphora, P... |
ORPHA:57145 |
Congenital Sialidosis Type 2 |
|
Protruding tongue, Respiratory tract infection, Cherry red spot of the macula, Gingival overgrowt... |
ORPHA:93400 |
Bardet-Biedl Syndrome 1 |
|
Syndactyly, Aganglionic megacolon, Dental crowding, Postaxial polydactyly, High, narrow palate, P... |
OMIM:209900 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Nasal polyposis, Sinusitis, Dextrocardia,... |
OMIM:606763 |
Proteus Syndrome |
|
Pulmonary embolism, Abnormal finger morphology, Abnormal lung lobation, Abnormal form of the vert... |
ORPHA:744 |
Schisis Association |
|
Micromelia, Tracheoesophageal fistula, Cleft palate, Unilateral cleft lip, Anal atresia |
ORPHA:63862 |
Stromme Syndrome |
|
Jejunal atresia, Prominent nasal bridge, Intestinal malrotation, Micrognathia, Microcephaly, Hype... |
OMIM:243605 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular sept... |
ORPHA:2255 |
Pallister-Killian Syndrome |
|
Small scrotum, Congenital hip dislocation, Single transverse palmar crease, Congenital diaphragma... |
OMIM:601803 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of... |
OMIM:129900 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Thick nasal alae, Micrognathia, Retrognathia, Supernumerary ribs, Short nose, Meckel diverticulum |
ORPHA:163961 |
Larsen-Like Syndrome, Lethal Type |
|
Joint dislocation, Multiple joint dislocation, Abnormal cartilage matrix, Respiratory insufficien... |
OMIM:245650 |
Mucopolysaccharidosis, Type Iiia |
|
Inguinal hernia, Thickened ribs, Joint stiffness, Synophrys, Recurrent upper respiratory tract in... |
OMIM:252900 |
Leukocyte Adhesion Deficiency Type Ii |
|
Mandibular prognathia, Severe periodontitis, Overlapping toe, Depressed nasal bridge, Protruding ... |
ORPHA:99843 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
Walker-Warburg Syndrome |
|
Hypoplasia of penis, Posteriorly rotated ears, Abnormal cortical gyration, Microcephaly, Cryptorc... |
ORPHA:899 |
6Q Terminal Deletion Syndrome |
|
Micrognathia, Short neck, High, narrow palate, Joint laxity, Aplasia/Hypoplasia of the ribs, Low-... |
ORPHA:75857 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Otitis media, Chronic sinusitis, Recurrent bronchitis, High-frequency hearing impair... |
OMIM:300455 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Bicuspid aortic valve, Short neck, Deep philtrum, Finger joint hypermobility, Joint laxity, Antev... |
OMIM:613563 |
Isolated Sedoheptulokinase Deficiency |
|
Inguinal hernia, Flexion contracture, Hip dysplasia, Shallow orbits, Arthrogryposis multiplex con... |
ORPHA:440713 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Small scrotum, Uplifted earlobe, Micrognathia, Short neck, Short palm, Clinodactyly of the 5th fi... |
OMIM:616734 |
Holoprosencephaly 9 |
|
Hypoplasia of the maxilla, Single naris, Hypotelorism, Short philtrum, Micropenis, Depressed nasa... |
OMIM:610829 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Narrow nasal tip, Hypospadias, Anteverted nares, Supernumerary nipple, Tapered finger, Sparse eye... |
ORPHA:477993 |
Macrocephaly/Autism Syndrome |
|
Joint laxity, Epicanthus, Depressed nasal bridge, Penile freckling, Large for gestational age, Ob... |
OMIM:605309 |
Bor Syndrome |
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Branchial cyst, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of ... |
ORPHA:107 |
Noonan Syndrome With Multiple Lentigines |
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Brachycephaly, Pectus carinatum, Severe sensorineural hearing impairment, Atrioventricular canal ... |
ORPHA:500 |
Fraser Syndrome |
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Hypoplasia of penis, Cleft ala nasi, Dental crowding, Small scrotum, Abnormal lung lobation, Orof... |
ORPHA:2052 |
Frontofacionasal Dysplasia |
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Telecanthus, Depressed nasal bridge, Choanal atresia, Blepharophimosis, Bifid nasal tip, Short no... |
ORPHA:1791 |
Joubert Syndrome 27 |
|
Thick lower lip vermilion, Polydactyly |
OMIM:617120 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
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Respiratory distress, Thin upper lip vermilion, Frontal bossing, Tented upper lip vermilion, Ante... |
ORPHA:438216 |
Oculo-Palato-Cerebral Syndrome |
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Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria |
ORPHA:2714 |
Chromosome 1P36 Deletion Syndrome, Proximal |
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Bicuspid aortic valve, Micrognathia, High palate, Atrial septal defect, Parietal bossing, Patent ... |
OMIM:619343 |
Scimitar Syndrome |
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Respiratory distress, Abnormal lung morphology, Pulmonary artery hypoplasia, Cough, Atrial septal... |
ORPHA:185 |
3-Methylglutaconic Aciduria, Type Viib |
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Respiratory distress, Rhizomelia, Micrognathia, Microcephaly, Brachioradialis areflexia, Trismus,... |
OMIM:616271 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
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Rod-cone dystrophy, Subcapsular cataract, Optic atrophy, Cataract |
OMIM:612674 |
Chromosome Xp11.3 Deletion Syndrome |
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Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop... |
OMIM:300578 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
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Joint laxity, Thin upper lip vermilion, Wide nose, Overriding aorta, Sandal gap, Bicuspid aortic ... |
ORPHA:477817 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
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Retinal detachment, Cataract, Optic nerve hypoplasia |
OMIM:615181 |
Loeys-Dietz Syndrome 1 |
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Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve... |
OMIM:609192 |
Radial-Renal Syndrome |
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Absent radius, Absent thumb |
OMIM:179280 |
Ohdo Syndrome, Sbbys Variant |
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Thin upper lip vermilion, Depressed nasal bridge, Micrognathia, Bulbous nose, Cleft palate, Patel... |
OMIM:603736 |
Epithelial Recurrent Erosion Dystrophy |
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Epiphora |
OMIM:122400 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
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Hand clenching, Respiratory distress |
ORPHA:240103 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
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Micrognathia, Hypertelorism, Cryptorchidism, Patent ductus arteriosus, Delayed skeletal maturatio... |
OMIM:614857 |
Autoimmune Pulmonary Alveolar Proteinosis |
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Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Clubbing, Intraalveolar phospholipid accumulat... |
ORPHA:747 |
Absent Eyebrows And Eyelashes With Mental Retardation |
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Absent eyelashes, Absent eyebrow, Short nose, Convex nasal ridge |
OMIM:200130 |
Hereditary Methemoglobinemia |
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Exertional dyspnea, Lip discoloration, Cyanosis, Microcephaly |
ORPHA:621 |
Cdags Syndrome |
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Sagittal craniosynostosis, Rectourethral fistula, Kyphosis, Cleft palate, Rectovaginal fistula, S... |
OMIM:603116 |
Gaucher Disease Type 2 |
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Respiratory distress, Recurrent respiratory infections, Flexion contracture, Cough, Abnormal patt... |
ORPHA:77260 |
Microcephaly 26, Primary, Autosomal Dominant |
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Prominent nasal bridge, Prominent eyelashes, Wide nasal bridge, Upslanted palpebral fissure, Scol... |
OMIM:619179 |
Familial Congenital Mirror Movements |
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Fused cervical vertebrae, Hypogonadotropic hypogonadism |
ORPHA:238722 |
Microphthalmia With Linear Skin Defects Syndrome |
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Respiratory distress, Micrognathia, Epispadias, Abnormality of the ear, Abnormal fallopian tube m... |
ORPHA:2556 |
Congenital Absence/Hypoplasia Of Fingers Excluding Thumb, Unilateral |
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Short thumb, Short metacarpal, Duplication of the distal phalanx of the 5th finger, Abnormal meta... |
ORPHA:973 |
Pulmonary Capillary Hemangiomatosis |
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Cyanosis, Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary... |
ORPHA:199241 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Frontal bossing, Anteverted nares, Depressed nasal bridge, Aganglionic mega... |
ORPHA:1051 |
Bardet-Biedl Syndrome 8 |
|
Hypospadias, Postaxial polydactyly, Situs inversus totalis, Brachycephaly, Hypogonadism |
OMIM:615985 |
Kilquist Syndrome |
|
Mandibular prognathia, Choanal atresia, Coxa valga, 2-3 toe syndactyly, Hypoplasia of teeth, Pect... |
OMIM:619080 |
Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Kyphoscoliosis, Joint stiffness, Synophrys, Recurrent upper respiratory tract inf... |
OMIM:252930 |
Joubert Syndrome 23 |
|
Sensorineural hearing impairment, Tachypnea, Polydactyly, Apnea |
OMIM:616490 |
Holoprosencephaly 7 |
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Flat occiput, Hypotelorism, Hypoplastic nasal septum, Shallow orbits, Parietal bossing, Median cl... |
OMIM:610828 |
Marfan Syndrome |
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Dental crowding, Bicuspid aortic valve, Genu recurvatum, Equinus calcaneus, Micrognathia, Flexion... |
OMIM:154700 |
Tracheobronchopathia Osteochondroplastica |
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Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Septooptic Dysplasia |
|
Short stature, Polydactyly, Short finger |
OMIM:182230 |
Corneal Dystrophy, Meesmann, 1 |
|
Epiphora |
OMIM:122100 |
Axenfeld-Rieger Syndrome |
|
Anal stenosis, Depressed nasal bridge, Hypospadias, Hypertelorism, Hypoplasia of the maxilla, Wid... |
ORPHA:782 |
Ring Chromosome 13 Syndrome |
|
Bifid scrotum, Aplasia/Hypoplasia of the thumb, Micrognathia, Short neck, High palate, Short phil... |
ORPHA:96176 |
Pachyonychia Congenita |
|
Respiratory distress, Natal tooth, Angular cheilitis, Ear pain, Palmoplantar keratoderma, Palmopl... |
ORPHA:2309 |
Corneal Dystrophy, Meesmann, 2 |
|
Epiphora |
OMIM:618767 |
Fanconi Anemia, Complementation Group L |
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Hypoplastic sacrum, Absent thumb, Absent radius, Esophageal atresia, Micrognathia, Short neck, Tr... |
OMIM:614083 |
Familial Visceral Myopathy |
|
Arachnodactyly, Aganglionic megacolon, Camptodactyly of finger, Micrognathia, Joint stiffness, An... |
ORPHA:2604 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Recurrent respiratory infections, Dilation of Virchow-Robin spaces, Antever... |
OMIM:615273 |
Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Cleft ala nasi, Dental crowding, Cutaneous finger syndactyly, Ch... |
OMIM:219000 |
Dravet Syndrome |
|
Limited knee extension, Cyanotic episode, Tibial torsion |
ORPHA:33069 |
Pulmonary Arteriovenous Malformation |
|
Cyanosis, Transient ischemic attack, Epistaxis, Cough, Dyspnea, Clubbing, Pulmonary arteriovenous... |
ORPHA:2038 |
Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Genu recurvatum, Downturned corners of mouth, Deeply set... |
OMIM:619539 |
Microphthalmia, Syndromic 6 |
|
Small scrotum, Single transverse palmar crease, Uplifted earlobe, Micrognathia, Brachycephaly, Pr... |
OMIM:607932 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Flexion contracture, Pulmonary hypoplasia, Left ventricular hypertrophy, In... |
OMIM:616733 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Situs inversus totalis, Conductive hearing impairment, Velophar... |
ORPHA:199302 |
Cat Eye Syndrome |
|
Micrognathia, Atrial septal defect, Hypertelorism, Patent ductus arteriosus, Total anomalous pulm... |
OMIM:115470 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Epicanthus, Anteverted nares, Depressed nasal bridge, Recurrent upper respiratory tract infection... |
OMIM:614069 |
Weill-Marchesani Syndrome 4 |
|
Joint stiffness, Brachydactyly |
OMIM:613195 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:605809 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Abnormal thorax morphology, Tachyp... |
ORPHA:70587 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Bifid scrotum, Joint hypermobility, Cryptorchidism, Glandular hypospadias, Retrognathia, Thin rib... |
ORPHA:456328 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Long eyelashes, Sho... |
OMIM:617802 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, Finger syndactyly, Neonatal respiratory distress, Ventricular septal defect, Ao... |
OMIM:620025 |
Isolated Right Ventricular Hypoplasia |
|
Cyanosis, Cardiomegaly, Dyspnea, Muscular ventricular septal defect, Clubbing, Hypoxemia, Atrial ... |
ORPHA:439 |
Congenital Heart Block |
|
Cyanosis, Crackles, Pericardial effusion, Patent ductus arteriosus, Endocardial fibroelastosis, I... |
ORPHA:60041 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Short neck, Flexion contracture, Pectus carinatum, Thoracic kyphosis, Atria... |
ORPHA:505248 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... |
ORPHA:79127 |
Joubert Syndrome 15 |
|
Preaxial polydactyly, Exencephaly |
OMIM:614464 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Syndactyly, Congenital hip dislocation, Depressed nasal bridge, Hypertelorism, Pectus excavatum, ... |
OMIM:104350 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Micrognathia, Hypertelorism, Tracheoesophageal fistula, Orofacial clef... |
ORPHA:268249 |
Deafness, Progressive, With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
OMIM:601449 |
Progressive Deafness With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
ORPHA:3235 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Pes planus, Depressed nasal bridge, Single transverse palmar crease, Br... |
ORPHA:466943 |
Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Clubbing, ... |
ORPHA:60033 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of... |
OMIM:604292 |
Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Delayed eruption of primary teeth, Cachex... |
ORPHA:191 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Absent thumb, Microcephaly, Submucous cleft hard palate, Pulmonic stenosis, Atrial septal defect,... |
OMIM:619239 |
Angelman Syndrome |
|
Mandibular prognathia, Flat occiput, Protruding tongue, Hypoplasia of the maxilla, Brachycephaly,... |
OMIM:105830 |
Meckel Syndrome, Type 4 |
|
Bowing of the long bones, Postaxial hand polydactyly, Cleft palate |
OMIM:611134 |
Distal Deletion 12Q |
|
Single transverse palmar crease, Short neck, Micrognathia, Aplasia/Hypoplasia of the middle phala... |
ORPHA:96149 |
C1Q Deficiency 2 |
|
Atelectasis, Oral ulcer, Bronchiectasis, Facial erythema, Arthritis, Vasculitis in the skin, Recu... |
OMIM:620321 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cyanosis, Apnea, Microcephaly, Protruding tongue, Hand clenching, Hearing impairment |
OMIM:619580 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Mandibular prognathia, Joint laxity, Frontal bossing, Arachnodactyly, Prominent nasal bridge, Pos... |
OMIM:617011 |
Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Thin upper lip vermilion, Progressive microcephaly, Long philtrum |
OMIM:614741 |
Cowden Syndrome |
|
Pectus excavatum, Kyphosis, Bone cyst, Furrowed tongue, Hamartomatous polyposis, Macroglossia, Pa... |
ORPHA:201 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Chylopericardium, Pulmonic stenosi... |
ORPHA:2414 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:596 |
Vernal Keratoconjunctivitis |
|
Abnormal conjunctiva morphology, Lacrimation abnormality, Scarring |
ORPHA:70476 |
Severe Congenital Nemaline Myopathy |
|
Hypospadias, Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Thin r... |
ORPHA:171430 |
Bronchogenic Cyst |
|
Back pain, Pulmonary cyst, Abnormal pericardium morphology, Pneumonia, Abnormal stomach morpholog... |
ORPHA:2357 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose, Cupped ear, Short philtrum, Macrotia |
ORPHA:93945 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:613642 |
Yuan-Harel-Lupski Syndrome |
|
Joint laxity, Thin upper lip vermilion, Wide nose, Sandal gap, Bicuspid aortic valve, Ventricular... |
OMIM:616652 |
Noonan Syndrome 3 |
|
Epicanthus, Hypoplastic nasal bridge, Anteverted nares, Sagittal craniosynostosis, Pectus excavat... |
OMIM:609942 |
Joubert Syndrome 20 |
|
4-5 toe syndactyly, Postaxial polydactyly |
OMIM:614970 |
Sirenomelia |
|
Absence of the sacrum, Tracheoesophageal fistula, Sirenomelia, Aplasia/Hypoplasia of the radius, ... |
ORPHA:3169 |
Spondylo-Ocular Syndrome |
|
Abnormal eyebrow morphology, Abnormal intervertebral disk morphology, Short neck, Osteoporosis, J... |
ORPHA:85194 |
Idiopathic Panuveitis |
|
Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Vi... |
ORPHA:280921 |
Microphthalmia, Syndromic 5 |
|
Cataract, Retinal dystrophy, Optic nerve hypoplasia, Microcornea, Coloboma |
OMIM:610125 |
Orofacial Cleft 13 |
|
Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia |
OMIM:613857 |
Moderate Hemophilia A |
|
Arthropathy, Hip contracture, Epidural hemorrhage, Cartilage destruction, Intraventricular hemorr... |
ORPHA:169805 |
Ossicular Malformations, Familial |
|
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles |
OMIM:165680 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Aortic Arch Interruption |
|
Respiratory distress, Cyanosis, Bicuspid aortic valve, Ventricular septal defect, Patent ductus a... |
ORPHA:2299 |
Shwachman-Diamond Syndrome 2 |
|
Death in infancy, Anterior rib cupping, Metaphyseal widening, Death in childhood, High palate, St... |
OMIM:617941 |
Pterygium Colli, Isolated |
|
Epicanthus, Short nose |
OMIM:177990 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Abnormality of the temporomandibular joint, Protruding tongue, Hyperlordosis, At... |
ORPHA:258 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
Vogt-Koyanagi-Harada Disease |
|
Retinal detachment, Cataract |
ORPHA:3437 |
Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Calvarial skull defect, Atrial septal defect, Pachygyria, Encephalocele, C... |
OMIM:100300 |
Adams-Oliver Syndrome 5 |
|
Syndactyly, Esophageal varix, Brachydactyly |
OMIM:616028 |
Costello Syndrome |
|
Hyperextensibility of the finger joints, Limited elbow movement, Micrognathia, Short neck, Pectus... |
OMIM:218040 |
Constricting Bands, Congenital |
|
Syndactyly, Cleft upper lip, Cleft palate, Abnormal rib cage morphology, Hand polydactyly, Talipe... |
OMIM:217100 |
Limb-Mammary Syndrome |
|
Syndactyly, Toe syndactyly, Submucous cleft soft palate, Cleft hard palate, Cleft lip, 3-4 finger... |
ORPHA:69085 |
Camptodactyly Syndrome, Guadalajara, Type Iii |
|
Small hypothenar eminence, Abnormal pinna morphology, Short neck, Hypertelorism, Delayed skeletal... |
OMIM:611929 |
Hypomandibular Faciocranial Dysostosis |
|
Anteverted nares, Craniosynostosis, Maxillozygomatic hypoplasia, Upslanted palpebral fissure, Cho... |
ORPHA:1790 |
Spondylospinal Thoracic Dysostosis |
|
Multiple pterygia, Micrognathia, Hypoplasia of the maxilla, Short thorax, Pulmonary hypoplasia, A... |
OMIM:601809 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hypoventilation, Cyanosis, Depressed nasal bridge, Anteverted nares, Central hypoventilation, Hyp... |
ORPHA:293987 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, P... |
ORPHA:1302 |
Woolly Hair |
|
Abnormal pupil morphology, Cataract, Abnormal retinal morphology |
ORPHA:170 |
High Altitude Pulmonary Edema |
|
Orthopnea, Cyanosis, Crackles, Dyspnea, Vertigo, Tachypnea, Hypoxemia, Cough, Pulmonary edema |
ORPHA:330012 |
Loeys-Dietz Syndrome |
|
Joint dislocation, Micrognathia, Orofacial cleft, Pectus carinatum, High palate, Uterine rupture,... |
ORPHA:60030 |
Craniofacial-Deafness-Hand Syndrome |
|
Telecanthus, Ulnar deviation of the hand, Depressed nasal bridge, Hypoplasia of the maxilla, Narr... |
OMIM:122880 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Perimembranous ventricular septal defect, Pulmo... |
OMIM:611376 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Respiratory distress, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebra... |
OMIM:612852 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Short thorax, Short neck, Brachydactyly |
ORPHA:168577 |
Ablepharon Macrostomia Syndrome |
|
Hypoplasia of penis, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Depressed nasal b... |
ORPHA:920 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Bowing of the legs |
OMIM:146350 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Aglossia, Choanal... |
OMIM:241310 |
Laryngeal Abductor Paralysis |
|
Stridor, Cyanosis, Talipes equinovarus, Microcephaly |
OMIM:150260 |
Grange Syndrome |
|
Syndactyly, Recurrent fractures, Increased susceptibility to fractures, Finger clinodactyly, Brac... |
OMIM:602531 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Intestinal malrotation, Cleft soft palate, Flexion contracture, Genu valgum, Downturned corners o... |
OMIM:619321 |
Orofaciodigital Syndrome Type 14 |
|
Short neck, Bilateral cryptorchidism, Epispadias, Aplasia of the epiglottis, Lobulated tongue, Mi... |
ORPHA:434179 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
Isolated Arrhinia |
|
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... |
ORPHA:1134 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, Depressed nasal bridge, Myofiber disarray, High palate, D... |
OMIM:604377 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Mandibular prognathia, Small scrotum, Short neck, Brachycephaly, Protruding ear, Posterior plagio... |
OMIM:620330 |
Dyskeratosis Congenita, Digenic |
|
Sparse eyelashes, Abnormal palmar dermatoglyphics, Bilateral ptosis, Failure to thrive, Decreased... |
OMIM:620040 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Abnormal thumb morphology, Metatarsus adductus, Spina bifida occulta, Tibial bowing, Macroglossia... |
ORPHA:500095 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Epicanthus, Prominent nasal bridge, Micrognathia, Broad nasal tip, Wide nasal bridge, Scoliosis, ... |
OMIM:300749 |
Familial Calcium Pyrophosphate Deposition |
|
Joint dislocation, Abnormal intervertebral disk morphology, Osteoarthritis, Limitation of joint m... |
ORPHA:1416 |
Slc39A8-Cdg |
|
Osteopenia, Craniosynostosis, Elbow flexion contracture, Knee flexion contracture, Cutaneous synd... |
ORPHA:468699 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Macroglossia, High pala... |
ORPHA:254864 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... |
OMIM:614643 |
Senior-Loken Syndrome 9 |
|
Osteopenia, Hypoplasia of the femoral head, Polydactyly, Hypogonadism, Chronic bronchitis |
OMIM:616629 |
Kabuki Syndrome 1 |
|
Joint dislocation, Congenital hip dislocation, Premature thelarche, Micrognathia, Protruding ear,... |
OMIM:147920 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... |
ORPHA:99125 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Short nose, Thick vermilion border, Long philtrum |
ORPHA:833 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Wide nose, Arachnodactyly, Rocker bottom foot, Tarsal synostosis, Craniosynostosis, Depressed nas... |
OMIM:201750 |
Lacrimal Duct Defect |
|
Sinusitis, Dacryocystitis, Lacrimal duct atresia, Conjunctivitis, Dacryocystocele, Epiphora |
OMIM:149700 |
10Q22.3Q23.3 Microdeletion Syndrome |
|
Microretrognathia, Curved middle phalanx of the 4th toe, Intestinal polyposis, Frontal bossing, A... |
ORPHA:276413 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Absence of the sacrum, Microcephaly, Sensorineural hearing impairment, Submucous cleft hard palat... |
OMIM:617660 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Intestinal obstruction, Nasal polyposis, Sinusitis, Abnormal pericardium morphology, Transient is... |
ORPHA:183 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Hypoplasia of penis, Inguinal hernia, Femoral hernia, Anteverted nares, Highly arched eyebrow, Fa... |
ORPHA:96147 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Depressed nasal bridge, Choanal atresia, Synophrys, Bulbous nose, Short nose, Downslanted palpebr... |
ORPHA:284169 |
Chromosome 15Q25 Deletion Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Flat occiput, Cleft upper li... |
OMIM:614294 |
Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Coxa valga, Hypoplastic vertebral bodies, Lambdoidal craniosynostosis, Coronal craniosynostosis, ... |
OMIM:601370 |
Pgm3-Cdg |
|
Lactose intolerance, Mild neurosensory hearing impairment, Osteomyelitis, Recurrent respiratory i... |
ORPHA:443811 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating growth hormone concentration, De... |
OMIM:613038 |
Birk-Barel Syndrome |
|
Microretrognathia, Reduced subcutaneous adipose tissue, Sacral dimple, Tented upper lip vermilion... |
OMIM:612292 |
Hemochromatosis, Type 1 |
|
Arthropathy, Diabetes mellitus, Hypogonadotropic hypogonadism, Osteoporosis, Azoospermia, Impoten... |
OMIM:235200 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Rod-cone dys... |
OMIM:268315 |
Heterotaxy, Visceral, 5, Autosomal |
|
Absence of the sacrum, Right atrial isomerism, Bilateral trilobed lung, Ventricular septal defect... |
OMIM:270100 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal finger morphology, Phocomelia, Microgastria, Aplastic clavicle, Hiatus hernia, Abnormali... |
ORPHA:2538 |
Cataract 39, Multiple Types |
|
Lamellar cataract, Anterior polar cataract, Developmental cataract |
OMIM:615188 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Telecanthus, Prominent nasal bridge, Underdeveloped nasal alae, Wide... |
ORPHA:163746 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Abnormal pinna morphology, Depressed nasal bridge, Wide anterior fontanel, ... |
OMIM:231680 |
Retinitis Pigmentosa 89 |
|
Esophageal varix, Postaxial polydactyly |
OMIM:618955 |
Faundes-Banka Syndrome |
|
Premature thelarche, Micrognathia, Deeply set eye, Lumbar hemivertebrae, Long ear, Conductive hea... |
OMIM:619376 |
Tularemia |
|
Respiratory distress, Pneumonia, Abnormal nasopharyngeal adenoid morphology, Oral ulcer, Otitis m... |
ORPHA:3392 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Abnormal cartilage morphology, Bone cyst, Osteolysis, Coarctation of a... |
ORPHA:2396 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... |
ORPHA:60032 |
Thoracoabdominal Syndrome |
|
Hypospadias, Cleft upper lip, Patent ductus arteriosus, Anencephaly, Cleft palate, Transposition ... |
OMIM:313850 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Macular degeneration, Cataract |
OMIM:619780 |
Fanconi Anemia, Complementation Group C |
|
Absent thumb, Absent radius, Short thumb, Flexion contracture, Anterior wedging of T12, Complete ... |
OMIM:227645 |
Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Retinal dystrophy, Sclerocornea, Microcornea, Chorioretinal coloboma, Iris coloboma |
ORPHA:139471 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Micrognathia, Abnormal tibia morphology, Hypotelorism, Protruding ear, High palate, At... |
ORPHA:363700 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Epicanthus, Sparse eyelashes, Anteverted nares, Decreased fertility, Hypoplasia of teeth, Keratoc... |
OMIM:234050 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Chr... |
OMIM:616726 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Hsd10 Disease, Infantile Type |
|
Cyanosis, Microcephaly, Cardiomegaly, Hypertrophic cardiomyopathy, Hearing impairment |
ORPHA:391428 |
Atrial Septal Defect, Ostium Primum Type |
|
Recurrent respiratory infections, Cyanosis, Left atrial enlargement, Dyspnea, Tachypnea, Abnormal... |
ORPHA:99106 |
Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... |
OMIM:300200 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Anteriorly placed anus, Abnormality of the uterus, Triphalang... |
ORPHA:857 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Joubert Syndrome 40 |
|
Postaxial polydactyly |
OMIM:619582 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Male hypogonadism, Abnormality of the cervical spine, Hypergonadotropic h... |
OMIM:307500 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... |
ORPHA:1112 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Dental crowding, Prominent nose, Bilateral cryptorchidism, High, narrow palate, Short philtrum, W... |
ORPHA:466791 |
Sotos Syndrome |
|
Accelerated skeletal maturation, No permanent dentition, Flexion contracture, Increased head circ... |
ORPHA:821 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Hypertrophic cardiomyopathy, Respiratory insufficiency due to muscle weakness |
OMIM:613561 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Cardiomegaly, Abnormal internal carotid artery morphology, Flexion contract... |
ORPHA:365 |
Alkaptonuria |
|
Joint dislocation, Mitral valve calcification, Abnormal heart valve morphology, Coronary artery c... |
ORPHA:56 |
Limbal Stem Cell Deficiency |
|
Lacrimation abnormality, Corneal scarring, Blepharospasm, Conjunctival hyperemia, Epiphora |
ORPHA:171673 |
Lethal Acantholytic Erosive Disorder |
|
Natal tooth, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Clinodactyly of the 5th ... |
ORPHA:158687 |
Ciliary Dyskinesia, Primary, 39 |
|
Dextrocardia, Double outlet right ventricle, Bronchiectasis, Decreased nasal nitric oxide, Cough,... |
OMIM:618254 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
White eyelashes, White eyebrow, Cryptorchidism, Anosmia, Arthrogryposis multiplex congenita, Alac... |
OMIM:609136 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Hypoplasia of the premaxilla, Micrognathia, Deformed humerus, Mandibular condyle hypoplasia, Disl... |
ORPHA:2975 |
Microform Holoprosencephaly |
|
Narrow nasal bridge, Tented upper lip vermilion, Anteverted nares, Choanal atresia, Midnasal sten... |
ORPHA:280200 |
Schimke Immuno-Osseous Dysplasia |
|
Lumbar hyperlordosis, Wide capital femoral epiphyses, Ovoid vertebral bodies, Depressed nasal bri... |
ORPHA:1830 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Sensorineural hearing impairment, Cyanosis, Progressive microcephaly, Genu valgum |
ORPHA:488627 |
Bloom Syndrome |
|
Male infertility, Premature ovarian insufficiency, Sparse eyelashes, Diabetes mellitus, Small for... |
ORPHA:125 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Nasal congestion, Hyperinsulinemia, Short 5th metacarpal |
ORPHA:66518 |
Laryngotracheal Angioma |
|
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Cloacal Exstrophy |
|
Intestinal malrotation, Abnormal tibia morphology, Hip dislocation, Absent foot, Abnormal fibula ... |
ORPHA:93929 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Epicanthus, Hypospadias, Depressed nasal bridge, Small for gestational age, Cryptorchidism, Gout,... |
OMIM:300661 |
Joubert Syndrome 17 |
|
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
Neurocardiofaciodigital Syndrome |
|
Syndactyly, Microcephaly, Patent ductus arteriosus, Tetralogy of Fallot, Double inlet left ventri... |
OMIM:619869 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Stillbirth, Talipes equinovarus, Femoral bowing |
OMIM:615415 |
Culler-Jones Syndrome |
|
Cleft palate, Short stature, Postaxial polydactyly, Cleft upper lip |
OMIM:615849 |
Developmental And Epileptic Encephalopathy 75 |
|
Upslanted palpebral fissure, Short nose, Anteverted nares, Wide nasal bridge |
OMIM:618437 |
Dent Disease |
|
Enlarged epiphyses, Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia,... |
ORPHA:1652 |
Cutis Laxa-Marfanoid Syndrome |
|
Abnormal heart valve morphology, Arachnodactyly, Flexion contracture, Limitation of joint mobilit... |
ORPHA:171719 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Epicanthus, Sinusitis, Anteverted nares, Depressed nasal bridge, Micrognathia, Malar flattening, ... |
OMIM:242860 |
Adult-Onset Still Disease |
|
Pericarditis, Cartilage destruction, Myocarditis, Recurrent pharyngitis, Erythema, Arthritis, Joi... |
ORPHA:829 |
Familial Nasal Acilia |
|
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Waardenburg Syndrome, Type 1 |
|
Mandibular prognathia, Spina bifida, Underdeveloped nasal alae, Hypertelorism, Congenital sensori... |
OMIM:193500 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Thickened helices, Atrioventricular canal defect, Bifid uvula, Exaggerated cupid's bow, Spina bif... |
OMIM:619480 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Abnormality of the outer ear, Hearing impairment |
OMIM:314600 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Relapsing Polychondritis |
|
Large vessel vasculitis, Anteriorly placed anus, Biparietal narrowing, Cough, Chondritis, Atelect... |
ORPHA:728 |
Dyskeratosis Congenita, X-Linked |
|
Hypospadias, Sparse eyelashes, Phimosis, Carious teeth, Cryptorchidism, Osteoporosis, Conjunctivi... |
OMIM:305000 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress, Microcephaly, Sensorineural hearing impairment, Dilated cardiomyopathy, Hyp... |
ORPHA:254913 |
Osteogenesis Imperfecta, Type Xv |
|
Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios... |
OMIM:615220 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Meningocele, Congenital sensorineural hearing impairment, Short neck |
ORPHA:3456 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Depressed nasal bridge, Postaxial polydactyly, Cryptorchidism, Sensorineural hearing impairment, ... |
OMIM:615824 |
Wolfram Syndrome 1 |
|
Diabetes mellitus, Diabetes insipidus, Hypothyroidism, Limited mobility of proximal interphalange... |
OMIM:222300 |
Renal Agenesis, Bilateral |
|
Non-midline cleft lip, Abnormal sacrum morphology, Depressed nasal ridge, Tracheoesophageal fistu... |
ORPHA:1848 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Short nose, Shawl scrotum |
ORPHA:85277 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Osteoporosis, Rickets, Type I diabetes mellitus, Failure to thrive, Ptosis |
OMIM:560000 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Atelectasis, Achilles tendon contracture, Proximal upper limb muscle hypertrophy, Decreased cervi... |
ORPHA:254361 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract |
OMIM:116300 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Multiple rib fractures, Death in infancy, Femur fracture, Os... |
OMIM:612301 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal eyelid morphology, Conjunctivitis, Abnormal vertebral morphology, Absent eyebrow, Abnorm... |
ORPHA:2273 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Epistaxis, Rickets, Cholelithiasis, Failure to thrive |
OMIM:211600 |
Fanconi Renotubular Syndrome 3 |
|
Rickets, Bowing of the legs |
OMIM:615605 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Small scrotum, Microcephaly, Cryptorchidism, Death in childhood, Intrauteri... |
OMIM:615597 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Sensorineural hearing impairment, Apnea |
ORPHA:79097 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Nasal polyposis, Pneumonia, Absent frontal sinuses, Situs inversus totalis, Abs... |
OMIM:244400 |
Hypermobile Ehlers-Danlos Syndrome |
|
Joint dislocation, Apnea, Venous insufficiency, Osteoarthritis, Abnormality of the gingiva, Gingi... |
ORPHA:285 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Nodular pattern on pulmonary HRCT, Hypermobility of distal interphalangeal joints, Periodontitis,... |
OMIM:130050 |
Popliteal Pterygium Syndrome |
|
Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Cutaneous finger syndactyly, Ta... |
OMIM:119500 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Single transverse palmar crease, High, narrow palate, Abnormal curvature of the verteb... |
OMIM:619475 |
Hardikar Syndrome |
|
Atrial septal defect, Patent foramen ovale, Cleft soft palate, Thoracolumbar scoliosis, Patent du... |
OMIM:301068 |
Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Respiratory distress, Pulmonary embolism, Intracranial hemorrhage, Colitis, Cough,... |
ORPHA:3260 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Depressed nasal bridge, Pectus excavatum, Hypoplasia of the zygomatic bone, Malar flattening, Sho... |
ORPHA:2835 |
Celiac Disease, Susceptibility To, 1 |
|
Osteoporosis, Rickets, Thyroiditis, Weight loss, Infertility, Delayed puberty, Type I diabetes me... |
OMIM:212750 |
Pmm2-Cdg |
|
Mandibular prognathia, Osteopenia, Respiratory distress, Multiple joint contractures, Prominent n... |
ORPHA:79318 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Renal And Mullerian Duct Hypoplasia |
|
Micrognathia, Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus, Shor... |
OMIM:266810 |
Malaria |
|
Respiratory distress |
ORPHA:673 |
Trichothiodystrophy 1, Photosensitive |
|
Small for gestational age, Flexion contracture, Absence of subcutaneous fat, Keratoconjunctivitis... |
OMIM:601675 |
Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
Sympathetic Ophthalmia |
|
Papilledema, Retinal detachment, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul... |
ORPHA:79098 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Inguinal hernia, Anteverted nares, Upslanted palpebral fissure, Metopic synostosis, Short nose, F... |
OMIM:613735 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Uplifted earlobe, Pectus carinatum, Deeply set eye, Widely spaced teeth, Atrial se... |
OMIM:235730 |
Legius Syndrome |
|
Non-small cell lung carcinoma, Mitral valve prolapse, Diaphyseal dysplasia, Ovarian neoplasm, Abn... |
ORPHA:137605 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Intestinal malrotation, Microcephaly, Situs inversus totalis, Atrioventricular cana... |
OMIM:605376 |
Aniridia-Absent Patella Syndrome |
|
Aniridia, Cataract |
ORPHA:1069 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... |
ORPHA:209905 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Fucosidosis |
|
Cardiomegaly, Abnormality of the dentition, Kyphosis, Brachycephaly, Anterior beaking of lumbar v... |
ORPHA:349 |
Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Cardiomegaly, Joint stiffness, Recurrent upper respiratory tract infections, Ovoi... |
OMIM:252920 |
Prolidase Deficiency |
|
Depressed nasal bridge, Micrognathia, Concave nasal ridge, Short nose, Failure to thrive, Ptosis |
OMIM:170100 |
Williams-Beuren Syndrome |
|
Osteopenia, Rectal prolapse, Flexion contracture, Clinodactyly of the 5th finger, Microdontia, Jo... |
OMIM:194050 |
X-Linked Intellectual Disability, Armfield Type |
|
Mandibular prognathia, Depressed nasal bridge, Micrognathia, Abnormality of the elbow, Small hand... |
ORPHA:85276 |
Retinitis Pigmentosa 51 |
|
Polydactyly |
OMIM:613464 |
Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
Treacher Collins Syndrome 2 |
|
Microretrognathia, Choanal atresia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, Mi... |
OMIM:613717 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Aganglionic megacolon, Intestinal malrotation, Bicuspid aortic valve, Ventr... |
ORPHA:210122 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... |
ORPHA:264675 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Failure to thrive, Palmoplantar keratoderma, Conjunctivitis, Decreased lacrimation |
OMIM:242150 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... |
OMIM:613426 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
17Q11 Microdeletion Syndrome |
|
Osteopenia, Bowing of the legs, Abnormal internal carotid artery morphology, Abnormal lung morpho... |
ORPHA:97685 |
Chiari Malformation Type Ii |
|
Cyanosis, Spina bifida, Myelomeningocele, Gray matter heterotopia, Cervical myelopathy, Inspirato... |
OMIM:207950 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Erosion of oral mucosa, Abnormal oral mucosa morphology, Abnormal fingertip... |
ORPHA:79404 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis, Stridor, Respiratory failure, Paroxysmal dyspnea, Left ventricular hypertrophy, Hypertr... |
ORPHA:444013 |
Oromandibular Dystonia |
|
Respiratory distress, Abnormality of the temporomandibular joint, Abnormality of the nose, Abnorm... |
ORPHA:93958 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Dilated cardiomyopathy, Tachypnea, Respiratory insufficie... |
OMIM:614299 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Hypospadias, Cleft upper lip, Hypertelorism, Cryptorchidism, Patent du... |
OMIM:600460 |
Sarcoidosis, Susceptibility To, 2 |
|
Dyspnea, Pneumothorax, Clubbing, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypo... |
OMIM:612387 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Hypoxemia... |
ORPHA:36238 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Bowing of the long bones, Diabetes mellitus, Rickets, Failure to thrive |
ORPHA:2088 |
Holoprosencephaly 2 |
|
Aplasia of the nasal bone, Aplasia of the premaxilla, Proboscis, Microcephaly, Submucous cleft ha... |
OMIM:157170 |
Acquired Methemoglobinemia |
|
Respiratory distress, Cyanosis, Dyspnea, Vertigo, Hypoxemia |
ORPHA:464453 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Pulmonar... |
ORPHA:70588 |
Dextrocardia |
|
Congenital hip dislocation, Intestinal malrotation, Dextrocardia, Situs inversus totalis, Abnorma... |
ORPHA:1666 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Infe... |
OMIM:615872 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Posteriorly rotated ears, Periventricular heterotopia, Sensorineural hearin... |
OMIM:618733 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Secundum atrial septal defect, Primum atrial septal defect, Protruding ear, Inlet ven... |
OMIM:619534 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Short nose, Small for gestational age |
ORPHA:289266 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
Stt3B-Cdg |
|
Respiratory distress, Small scrotum, Microcephaly, Cryptorchidism, Intrauterine growth retardatio... |
ORPHA:370924 |
Chand Syndrome |
|
Short fifth metatarsal, Depressed nasal bridge, Cleft palate, Agenesis of permanent teeth, Abnorm... |
ORPHA:1401 |
Tetanus |
|
Respiratory distress, Trismus, Stiff neck, Tachypnea |
ORPHA:3299 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Choanal atresia, Micrognathia, Cryptorchidism, Cleft palate, Abnormal heart mo... |
OMIM:154500 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Tracheoesophageal fistula, Abnormal form of the vertebral bodies, Respir... |
ORPHA:93941 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Osteomyelitis, Pneumonia, Respiratory tract infection, Myocardit... |
ORPHA:36234 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Frontal bossing, Everted upper lip vermilion, Depressed nasal bridge, Abnor... |
OMIM:305100 |
Cataract 15, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Nonproductive cough, Atrial septal defect, Pat... |
ORPHA:980 |
Vascular Ehlers-Danlos Syndrome |
|
Joint dislocation, Congenital hip dislocation, High, narrow palate, Osteoarthritis, Abnormality o... |
ORPHA:286 |
Meckel Syndrome |
|
Encephalocele, Low-set, posteriorly rotated ears, Bowing of the long bones, True hermaphroditism,... |
ORPHA:564 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pne... |
ORPHA:454836 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... |
OMIM:308750 |
Sarcoidosis, Susceptibility To, 1 |
|
Bone cyst, Enlarged lacrimal glands, Clubbing, Weight loss, Arthritis, Abnormal salivary gland mo... |
OMIM:181000 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Pneumothorax, Chronic pulmonary ob... |
ORPHA:411703 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Ascending aorta hypoplasia, Abnormal lung morphology, Abnormal lung lobatio... |
ORPHA:141127 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Anteverted nares, Micrognathia, Microcephaly, Patent ductus arteriosus, Ab... |
ORPHA:2306 |
9q subtelomeric deletion syndrome |
|
Synophrys, Anteverted nares, Short nose |
DECIPHER:52 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Infantile Krabbe Disease |
|
Respiratory distress, Prolonged brainstem auditory evoked potentials, Decreased head circumferenc... |
ORPHA:206436 |
Nipah Virus Disease |
|
Respiratory distress, Recurrent pharyngitis, Vertigo, Cough |
ORPHA:99825 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... |
OMIM:619702 |
Infantile Liver Failure Syndrome 3 |
|
Abnormal acetabulum morphology, Abnormality of the epiphysis of the femoral head, Hypoplastic ver... |
OMIM:618641 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... |
OMIM:267450 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Ventricular septal defect, Pneumonia, Episodic tachypnea, Pericardial effus... |
ORPHA:26793 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Hypospadias, Microcephaly, Stroke-like episode, High palate, Pulmonary arte... |
OMIM:619272 |
Hartsfield Syndrome |
|
Syndactyly, Wide nose, Median cleft lip, Hypospadias, Posteriorly rotated ears, Craniosynostosis,... |
OMIM:615465 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Tongue edema, Swollen lip, Angioedema, Erythema, Upper airway obstruction, ... |
ORPHA:100057 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Pierre-Robin sequence, Submucous cleft hard palate, Posteriorly placed tongue, Aplasia/Hypoplasia... |
OMIM:192445 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
Carcinoid Syndrome |
|
Pulmonary carcinoid tumor, Small intestine carcinoid, Increased serum serotonin, Paraganglioma, A... |
ORPHA:100093 |
Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Carious teeth, Failure to thrive, Epiphora |
OMIM:616353 |
Arnold-Chiari Malformation Type I |
|
Functional abnormality of the inner ear, Stiff neck, Areflexia of upper limbs, Myelopathy, Vertig... |
ORPHA:268882 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Intermittent hyperventilation, Hypertelorism, Precocious puberty, Preaxial polydactyly, Abnormali... |
ORPHA:163681 |
Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis, Apnea |
ORPHA:1949 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic card... |
OMIM:212140 |
Eisenmenger Syndrome |
|
Respiratory distress, Cyanosis, Ventricular septal defect, Increased pulmonary vascular resistanc... |
ORPHA:97214 |
Carney Complex |
|
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abn... |
ORPHA:1359 |
Osteopetrosis With Renal Tubular Acidosis |
|
Thickened calvaria, Recurrent fractures, Persistence of primary teeth, Pectus excavatum, Microgna... |
ORPHA:2785 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... |
ORPHA:91359 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Cyanosis, Ventricular septal defect, Abnormal coronary artery cours... |
ORPHA:3427 |
Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Bone pain, Osteomalacia, Rickets |
OMIM:193100 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Autosomal Dominant Cutis Laxa |
|
Osteopenia, Genu recurvatum, Abnormal curvature of the vertebral column, Protruding ear, Emphysem... |
ORPHA:90348 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Thin upper lip vermilion, Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Bronchiectasis, Abnor... |
OMIM:620233 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Crackles, Atelectasis, Hypersensitivity pneumonitis, Nonproductive cough, Dyspnea, Wheezing, Asth... |
ORPHA:2902 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Stroke, Microcephaly |
ORPHA:927 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vert... |
ORPHA:3109 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Intestinal malrotation, Hypoxemia, Prominent sternum, Pulmonary hypoplasia |
ORPHA:2140 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Cyanosis, Hypospadias, Apnea, Microcephaly, Sensorineural hearing impairment, P... |
OMIM:252010 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Neonatal respiratory distress, Mitral atresia, Patent ductus arteriosus, Double outlet right vent... |
OMIM:618164 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Postaxial polydactyly |
OMIM:605231 |
Complete Atrioventricular Septal Defect |
|
Cyanosis, Intercostal retractions, Crackles, Cardiomegaly, Complete atrioventricular canal defect... |
ORPHA:1329 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Cardiomyopathy, Stroke |
ORPHA:79312 |
Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Abnormal coronary artery morphology, Bicuspid aortic valve, Ventricular se... |
ORPHA:99094 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Oligozoospermia, Weight loss, Hypogonadism, Abnorma... |
ORPHA:85450 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... |
ORPHA:178320 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Premature ovarian insufficiency, Female hypogonadism, Malabsorption, Tympanos... |
OMIM:240300 |
Cystinosis, Nephropathic |
|
Male infertility, Diabetes mellitus, Failure to thrive in infancy, Metaphyseal widening, Delayed ... |
OMIM:219800 |
Frontofacionasal Dysplasia |
|
Frontal cutaneous lipoma, Telecanthus, Underdeveloped nasal alae, Ankyloblepharon, Eyelid colobom... |
OMIM:229400 |
Gelatinous Drop-Like Corneal Dystrophy |
|
Blepharospasm, Conjunctival amyloidosis, Epiphora |
ORPHA:98957 |
Meckel Syndrome, Type 6 |
|
Occipital encephalocele, Cleft upper lip, Postaxial hand polydactyly, Anencephaly, Cleft palate, ... |
OMIM:612284 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Short nose, Micrognathia |
OMIM:256600 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Delayed sk... |
ORPHA:1435 |
Familial Dysautonomia |
|
Recurrent fractures, Osteolysis, Scoliosis, Avascular necrosis, Alacrima |
ORPHA:1764 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Short metatarsal, Triphalangeal thumb, Atrial septal defect, 2-4 finger syndactyly... |
OMIM:107480 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Inguinal hernia, Small scrotum, Small for gestational age, Pectus excav... |
OMIM:613658 |
Norrie Disease |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... |
ORPHA:649 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
Cystinosis |
|
Nephrogenic diabetes insipidus, Rickets, Delayed puberty, Type I diabetes mellitus, Failure to th... |
ORPHA:213 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Failure to thrive, Rickets |
OMIM:602722 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Cyanosis, Cardiomegaly, Pericardial effusion,... |
ORPHA:555874 |
Hypercholanemia, Familial 1 |
|
Failure to thrive, Rickets |
OMIM:607748 |
Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system, Retinal hamartoma, Epiretinal membrane, Posterior subcap... |
ORPHA:637 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Flexion contracture, Esophageal varix, Dilated cardiomyopathy, Respiratory ... |
ORPHA:367 |
Laryngotracheoesophageal Cleft |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug... |
ORPHA:2004 |
Autosomal Dominant Centronuclear Myopathy |
|
Macrocephaly at birth, Proximal muscle weakness in upper limbs, Miscarriage, Respiratory insuffic... |
ORPHA:169189 |
Diamond-Blackfan Anemia 8 |
|
Short nose, Thick upper lip vermilion, Wide nasal bridge |
OMIM:612563 |
Japanese Encephalitis |
|
Respiratory distress, Irregular respiration, Stiff neck, Genu recurvatum, Elbow flexion contractu... |
ORPHA:79139 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sensorineural hearing imp... |
OMIM:220110 |
Aspartylglucosaminuria |
|
Joint laxity, Anteverted nares, Depressed nasal bridge, Kyphosis, Delayed skeletal maturation, Hy... |
OMIM:208400 |
Sepsis In Premature Infants |
|
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Enterocolitis, Abnorm... |
ORPHA:90051 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Tracheoesophageal fistula, Upper airway obstruction, Neoplasm of t... |
ORPHA:142 |
Alström Syndrome |
|
Respiratory distress, Thoracic scoliosis, Abnormality of dental color, Accelerated skeletal matur... |
ORPHA:64 |
Buerger Disease |
|
Acrocyanosis, Vasculitis |
ORPHA:36258 |
Usher Syndrome, Type Ig |
|
Hypoplasia of the nasal bone |
OMIM:606943 |
Ciliary Dyskinesia, Primary, 20 |
|
Ciliary dyskinesia, Absent outer dynein arms, Pulmonary artery stenosis, Atelectasis, Bronchiecta... |
OMIM:615067 |
Atelis Syndrome 2 |
|
Vitreous hemorrhage, Remnants of the hyaloid vascular system, Developmental cataract |
OMIM:620185 |
Beckwith-Wiedemann Syndrome |
|
Mandibular prognathia, Cardiomegaly, Accelerated skeletal maturation, Posterior helix pit, Promin... |
ORPHA:116 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Failure to thrive, Rickets |
OMIM:611590 |
Aicardi-Goutieres Syndrome 1 |
|
Petechiae, Microcephaly, Vasculitis, Erythema, Multiple gastric polyps, Cardiomyopathy, Prolonged... |
OMIM:225750 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Bone pain, Rickets, Elevated circulating parathyro... |
OMIM:613388 |
Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hyperparathyroidism, Bone pain, Rickets, Hypophosphatemic rickets, Elevated circulating parathyro... |
OMIM:612089 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Limited hip extension, Flexion contracture, Corneal scarring, Talipes equinovarus, Hand clenching... |
OMIM:614653 |
Hypoadrenocorticism, Familial |
|
Cyanosis, Apnea |
OMIM:240200 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Movement abnormality of the tongue, Open mouth, Kyphoscoliosis |
ORPHA:98805 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... |
ORPHA:91351 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Conjunctival hyperemia, Decreased lacrimation |
ORPHA:240071 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Sudden episodic apnea, Microcephaly, Respiratory insufficiency, Cardiomyopathy |
ORPHA:159 |
Hypohidrotic Ectodermal Dysplasia |
|
Frontal bossing, Sinusitis, Abnormal dental morphology, Anteverted nares, Abnormality of the dent... |
ORPHA:238468 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, External genital hypoplasia, Cryptorchidism, Submucous cleft hard palate, An... |
ORPHA:2250 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Gastroin... |
OMIM:600376 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
OMIM:237310 |
Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
|
Hyposmia, Corneal scarring, Decreased lacrimation |
OMIM:616488 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Hypospadias, Microcephaly, Submucous cleft hard palate, Flexion contracture, Ankle clonus, Deeply... |
OMIM:618891 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure, Progressive hearing impairment |
OMIM:620166 |
Epithelial Recurrent Erosion Dystrophy |
|
Epiphora, Keratoconjunctivitis sicca, Corneal scarring |
ORPHA:293381 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Respiratory distress, Pulmonary edema, Transient ischemic attack, Cardio... |
OMIM:115197 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Bifid uterus, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula |
ORPHA:2736 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Keloids, Cryptorchidism, Oligozoospermia |
OMIM:314300 |
Pseudo-Torch Syndrome 2 |
|
Acute respiratory distress syndrome, Cerebral hemorrhage, Microcephaly, Secundum atrial septal de... |
OMIM:617397 |
Listeriosis |
|
Back pain, Respiratory distress, Pericarditis, Stiff neck, Osteomyelitis, Miscarriage, Pneumonia,... |
ORPHA:533 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Joint laxity, Recurrent respiratory infections, Arachnodactyly, Microcephaly, Pectus excavatum, V... |
OMIM:219100 |
Whim Syndrome |
|
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Respiratory trac... |
ORPHA:51636 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Abnormal retinal vascular morphology, Retinal neovascularization, Macul... |
ORPHA:247691 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Hypoplasia of the maxilla, D... |
ORPHA:3044 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Microcephaly, Pulmonary embolism, Jaundice, Dilated cardiomyopathy, Subdura... |
ORPHA:79282 |
Histiocytoid Cardiomyopathy |
|
Cyanosis, Ventricular septal defect, Cardiomegaly, Tachypnea, Cleft palate, Stroke-like episode, ... |
ORPHA:137675 |
Pagod Syndrome |
|
Encephalocele, Abnormal clavicle morphology, Death in infancy, Spina bifida, Microcephaly, Situs ... |
ORPHA:991 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Sinusitis, Aplasia of the thymus, Anterior rib cupping, Horizontal in... |
OMIM:102700 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress |
ORPHA:289916 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Concave nasal ridge, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Kyphosi... |
OMIM:615512 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Alacrima, Hip dysplasia, Scoliosis, Hyperlordosis |
OMIM:615356 |
Adenylosuccinase Deficiency |
|
Thin upper lip vermilion, Anteverted nares, Wide mouth, Long philtrum, Short nose, Smooth philtrum |
OMIM:103050 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Exertional dyspnea, Cyanosis, Microcephaly |
OMIM:250800 |
Aicardi-Goutières Syndrome |
|
Multiple joint contractures, Cutis marmorata, Cardiomegaly, Microcephaly, Calcification of the ao... |
ORPHA:51 |
Neurotrophic Keratopathy |
|
Diabetes mellitus, Lacrimation abnormality, Corneal scarring |
ORPHA:137596 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis, Joint stiffness |
ORPHA:2400 |
Bardet-Biedl Syndrome 12 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly |
OMIM:615989 |
Methemoglobinemia And Ambiguous Genitalia |
|
Bifid scrotum, Cyanosis, Scrotal hypospadias, Hypospadias, Male pseudohermaphroditism, Ambiguous ... |
OMIM:250790 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Cardiomegaly, Respirato... |
ORPHA:308552 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Hypoxemia, Subcutaneous hemorrhage, Pulmonary hemorrhage |
ORPHA:238459 |
Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Abnormal pleura morphology, Joint stiffness, Cartilage destruction, ... |
ORPHA:29207 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Intestinal obstruction, Vasculitis, Limitation of joint mobility, Erythema, Urticaria, Arthritis,... |
ORPHA:343 |
Fabry Disease |
|
Conjunctival telangiectasia, Abnormal femur morphology, Reduced bone mineral density, Emphysema, ... |
ORPHA:324 |
Knobloch Syndrome |
|
Retinal detachment, Cataract, Ectopia lentis, Abnormal vitreous humor morphology, Macular degener... |
ORPHA:1571 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Myotonic Dystrophy 2 |
|
Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,... |
OMIM:602668 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Cyanosis, Apnea, Cardiomegaly, Pericardial effusion, Increased myocardial g... |
OMIM:261740 |
Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Overfolded helix, Submucous cleft hard palate |
ORPHA:209908 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor, Abnormal cardiac septum morphology |
ORPHA:2374 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Testicular atrophy, Respiratory distress |
OMIM:160900 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Cyanosis, Transient ischemic attack, Pneumonia, Increased pulmonary vasc... |
ORPHA:99104 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Stiff neck, Crackles, Myocarditis, Atelectasis, Nonproductive cough, Rhinit... |
ORPHA:319213 |
Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy, Abnormal mitochondrial shape, Respiratory insufficiency, Cyanosis |
OMIM:610773 |
Obesity-Hypoventilation Syndrome |
|
Hypoventilation, Cyanosis |
OMIM:257500 |
Q Fever |
|
Respiratory distress, Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Pneumonia, Pe... |
ORPHA:781 |
Zygomycosis |
|
Sinusitis, Acute infectious pneumonia, Colitis, Cough, Atelectasis, Nasal congestion, Retinal art... |
ORPHA:73263 |
Joubert Syndrome 39 |
|
Occipital encephalocele, Joint contracture of the 5th finger, Postaxial polydactyly |
OMIM:619562 |
Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Cyanosis, Transient ischemic attack, Pneumonia, Breathing dysregulation, Increased pul... |
ORPHA:99103 |
Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Osteopenia, Hypogonadotropic hypogonadism, Delayed skeletal maturation, Depressed nasal ridge, Am... |
ORPHA:95494 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microcephaly, Flexion contracture, Thin ribs, Lissencephaly, Narrow mouth, Polymicrogyria |
OMIM:614833 |
1P21.3 Microdeletion Syndrome |
|
Broad nasal tip, Micrognathia, Obesity, Upslanted palpebral fissure, Short nose, Joint hypermobility |
ORPHA:293948 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Autoamputation of digits, Jaundice, Osteomyelitis leading to amputation due... |
OMIM:256810 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Adrenal insufficiency, Prominent nose, Alacrima, Ptosis |
OMIM:615510 |
Atresia Of External Auditory Canal And Conductive Deafness |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... |
OMIM:108760 |
Ethylene Glycol Poisoning |
|
Cyanosis, Gastritis, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration, P... |
ORPHA:31826 |
Unilateral Polymicrogyria |
|
Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation, Microcephaly, Perisylvian polym... |
ORPHA:268943 |
Wolcott-Rallison Syndrome |
|
Metaphyseal dysplasia, Microcephaly, Jaundice, Atrial septal defect, Double outlet right ventricle |
ORPHA:1667 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis, Apnea |
OMIM:261680 |
Bardet-Biedl Syndrome 20 |
|
Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, Asthma, 2-3 toe synd... |
OMIM:619471 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Failure to thrive, Rickets |
ORPHA:79303 |
Posterior Polymorphous Corneal Dystrophy |
|
Lacrimation abnormality |
ORPHA:98973 |
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux |
|
Impotence, Alacrima |
OMIM:608088 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Patent urachus, Atrial septal defect, Scimitar anomaly, Micropenis, Mesocardia, Pe... |
OMIM:618280 |
Rodrigues Blindness |
|
Narrow nasal bridge, Nasal flaring, Protruding ear, Ectodermal dysplasia, Tooth malposition |
OMIM:268320 |
Ventriculomegaly With Cystic Kidney Disease |
|
Vascular dilatation, Gray matter heterotopia, Ventricular septal defect, Postaxial polydactyly |
OMIM:219730 |
Cadds |
|
Short nose, Adrenal hypoplasia, Micrognathia |
ORPHA:369942 |
Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Osteomalacia |
OMIM:179800 |
Renal, Genital, And Middle Ear Anomalies |
|
Vaginal atresia, Hearing impairment, Abnormality of the middle ear ossicles |
OMIM:267400 |
Herpes Simplex Virus Stromal Keratitis |
|
Epiphora |
ORPHA:137599 |
Senior-Loken Syndrome 8 |
|
Polydactyly, Vascular dilatation |
OMIM:616307 |
Fanconi Renotubular Syndrome 1 |
|
Rickets, Osteomalacia |
OMIM:134600 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Alacrima, Neuropathic arthropathy, Scoliosis |
OMIM:223900 |
Holoprosencephaly 14 |
|
Frontal bossing, Median cleft lip, Anteverted nares, Ventricular septal defect, Proboscis, Microc... |
OMIM:619895 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Failure to thrive, Rickets |
OMIM:607765 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Flexion contracture, Microcephaly |
OMIM:618201 |
Wilson Disease |
|
Hypoparathyroidism, Osteomalacia, Joint hypermobility, Osteoarthritis, Osteoporosis, Hyposmia, Ch... |
OMIM:277900 |
Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Stillbirth, Prominent floating ribs, Malabsorption |
OMIM:152800 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Cardiomyopathy, Cerebellar hemorrhage |
OMIM:251000 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Osteomalacia, Primary hyperparathyroidism, Bone pain, Multiple lipomas, Chondrocalcinosis |
OMIM:600740 |
Congenital Enterovirus Infection |
|
Respiratory distress, Pericardial effusion, Myocarditis, Cardiomyopathy, Pleural effusion |
ORPHA:292 |
Partial Atrioventricular Septal Defect |
|
Recurrent respiratory infections, Bicuspid aortic valve, Transient ischemic attack, Coronary sinu... |
ORPHA:1330 |
Cryptococcosis |
|
Respiratory distress, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Prost... |
ORPHA:1546 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Microceph... |
OMIM:618426 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Microcepha... |
OMIM:614748 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
Encephalopathy, Ethylmalonic |
|
Death in infancy, Acrocyanosis, Petechiae |
OMIM:602473 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Joint laxity, Peripheral pulmonary artery stenosis, Delayed cranial suture closure, Microcephaly,... |
ORPHA:90349 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulean cataract, Anterior... |
ORPHA:67036 |
Primary Hyperoxaluria |
|
Cutis marmorata, Recurrent fractures, Abnormality of the dentition, Generalized osteosclerosis, B... |
ORPHA:416 |
Amoebiasis Due To Free-Living Amoebae |
|
Sinusitis, Stiff neck, Abnormality of the adrenal glands, Increased tear production, Hyposmia, Co... |
ORPHA:68 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Tongue edema, Intestinal edema, Abnormal soft palate morphology, Dyspnea, U... |
ORPHA:100050 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Rickets, Osteomalacia |
OMIM:227810 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
Hemorrhagic Fever-Renal Syndrome |
|
Back pain, Respiratory distress, Epistaxis, Pneumonia, Dyspnea, Intracranial hemorrhage, Respirat... |
ORPHA:340 |
Mucoepithelial Dysplasia, Hereditary |
|
Epiphora, Keratoconjunctivitis |
OMIM:158310 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction |
ORPHA:97285 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Osteomyelitis, Gastritis, Pneumonia, Mala... |
ORPHA:37042 |
Cardiac Valvular Dysplasia 1 |
|
Atrial septal defect, Cyanosis, Ventricular septal defect, Left atrial enlargement, Tricuspid ste... |
OMIM:212093 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy, Podagra, Hip dislocation |
OMIM:300322 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea |
ORPHA:79242 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Diabetes mellitus, Rickets, Large for gestational age |
OMIM:616026 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... |
OMIM:164310 |
Cocaine Intoxication |
|
Respiratory distress, Subarachnoid hemorrhage, Cerebral hemorrhage, Intestinal perforation, Diffu... |
ORPHA:90068 |
Biotinidase Deficiency |
|
Respiratory distress, Apnea, Hyperventilation, Myelopathy, Sensorineural hearing impairment, Hear... |
ORPHA:79241 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Stridor, Mitochondrial swelling |
OMIM:615595 |
Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
Cleft Larynx, Posterior |
|
Aspiration, Cyanosis |
OMIM:215800 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Exaggerated cupid's bow, Apnea, Downturned corners of mouth, Cardiomyopathy... |
ORPHA:2131 |
Cone-Rod Dystrophy 10 |
|
Epiphora |
OMIM:610283 |
Eosinophilic Fasciitis |
|
Arthritis, Acrocyanosis |
ORPHA:3165 |
Cone-Rod Dystrophy 8 |
|
Epiphora |
OMIM:605549 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure |
ORPHA:330021 |
Myasthenia Gravis |
|
Dyspnea, Acrocyanosis, Rheumatoid arthritis, Hearing impairment |
ORPHA:589 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Transient ischemic attac... |
OMIM:610655 |
Acquired Purpura Fulminans |
|
Intracranial hemorrhage, Acrocyanosis, Macular purpura |
ORPHA:49566 |
Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Delayed skeletal maturation, Testicular atrophy |
OMIM:618165 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteomalacia, Osteoporosis, Rickets, Weight loss, Keratoconjunctivitis sicca |
ORPHA:309031 |
Lethal Congenital Contracture Syndrome 5 |
|
Death in infancy, Flexion contracture, Subdural hemorrhage, Respiratory insufficiency, Thin ribs,... |
OMIM:615368 |
Dermatomyositis |
|
Recurrent respiratory infections, Pericarditis, Telangiectasia of the skin, Gastrointestinal stro... |
ORPHA:221 |
Cardiac Valvular Dysplasia 2 |
|
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Central cyanosis, Pulmonic stenosis, Sub... |
OMIM:620067 |
Alacrima, Congenital, Autosomal Dominant |
|
Lacrimal gland hypoplasia, Decreased lacrimation, Alacrima, Lacrimal punctal atresia |
OMIM:103420 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Large placenta, Abnormal heart morphology, Coat hanger sign of ribs, U... |
ORPHA:254534 |
Nocardiosis |
|
Respiratory distress, Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Pneumonia, Pr... |
ORPHA:31204 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Decreased circulating cortisol level, Palmoplantar hyperkeratosis, Adrenocorticotropin receptor d... |
OMIM:231550 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Recurrent respiratory infections, Cardiomegaly, Pectus excavatum, Atelec... |
OMIM:618278 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Neonatal death, Short nose, Thick vermilion border, Long philtrum |
OMIM:252160 |
Lymphatic Malformation 7 |
|
Respiratory distress, Pericardial effusion, Varicose veins, Chylothorax, Atrial septal defect, Pl... |
OMIM:617300 |
Penile Agenesis |
|
Depressed nasal bridge, Maternal diabetes, Cryptorchidism, Bilateral talipes equinovarus, Absent ... |
ORPHA:49 |
Postinfectious Vasculitis |
|
Cerebral vasculitis, Palpable purpura, Cutis marmorata, Pneumonia, Orchitis, Arthritis, Cardiomyo... |
ORPHA:48435 |
Distal Renal Tubular Acidosis |
|
Osteomalacia, Rickets, Bone pain, Increased susceptibility to fractures, Reduced bone mineral den... |
ORPHA:18 |
Retinitis Pigmentosa 74 |
|
Polydactyly |
OMIM:616562 |
Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Transient ischemic attack, Jaundice, Stroke, Prolonged neonatal jaundice |
OMIM:274150 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Symblepharon, Trichiasis, Atypical scarring of skin, Keratoconjunctivi... |
ORPHA:95455 |
Peroxisome Biogenesis Disorder 4B |
|
Short nose, Adrenal insufficiency, Single transverse palmar crease |
OMIM:614863 |
Isolated Congenital Alacrima |
|
Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, Distichiasis, Alacrima, Ptosis |
ORPHA:91416 |
Thoracic Outlet Syndrome |
|
Varicose veins, Abnormal rib morphology |
ORPHA:97330 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis, Apnea, Meconium ileus, Respiratory insufficiency, Knee flexion contracture |
OMIM:617239 |
Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Chylopericardium, Restricti... |
ORPHA:538 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea |
ORPHA:247257 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
Microtia With Meatal Atresia And Conductive Deafness |
|
Wide mouth, Aplasia/Hypoplasia of the middle ear, Microtia, Anotia, Conductive hearing impairment |
OMIM:251800 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Short nose, Thick vermilion border, Long philtrum |
OMIM:252150 |
Plague |
|
Respiratory distress, Chapped lip, Abnormality of the elbow, Enterocolitis, Endocarditis, Acute i... |
ORPHA:707 |
Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip... |
OMIM:606721 |
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase |
|
Alacrima |
OMIM:240000 |
Infantile Nephropathic Cystinosis |
|
Failure to thrive, Rickets, Abnormality of thyroid physiology |
ORPHA:411629 |
Gitelman Syndrome |
|
Respiratory distress, Pericardial effusion, Vertigo, Gout, Varicose veins, Tinnitus, Chondrocalci... |
ORPHA:358 |
Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Alacrima, Congenital, Autosomal Recessive |
|
Alacrima |
OMIM:601549 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Abnormality of the adrenal glands, Alacrima |
ORPHA:289483 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Dyspnea, Sensorineural hearing impairment, Dilated cardiomyopathy, Episodic respiratory di... |
ORPHA:255210 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Epiphora |
OMIM:122000 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress |
OMIM:251110 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress |
OMIM:251100 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Thin upper lip vermilion, Anal stenosis, Hypospadias, Hypoplasia of the maxilla, Wide nasal bridg... |
OMIM:180500 |
Colchicine Poisoning |
|
Respiratory distress, Myocarditis, Cardiorespiratory arrest |
ORPHA:31824 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Respiratory tract infection, Cardiac rhabdomyoma, Pulmonary lymphangiomyoma... |
ORPHA:805 |
Goodpasture Syndrome |
|
Cyanosis, Nodular pattern on pulmonary HRCT, Crackles, Increased DLCO, Tachypnea, Restrictive ven... |
OMIM:233450 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Alacrima |
OMIM:300858 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Death in infancy, Jaundice, Intrauterine growth retardation |
OMIM:617156 |
Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Osteomalacia, Weight loss, Arthritis, Joint swelling, Anoperineal fistula |
OMIM:619381 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Hyperoxaluria, Primary, Type I |
|
Increased bone mineral density, Cutis marmorata, Peripheral arterial stenosis, Bone pain, Patholo... |
OMIM:259900 |
Helix Syndrome |
|
Hyperparathyroidism, Alacrima |
OMIM:617671 |
Familial Hypocalciuric Hypercalcemia |
|
Lipoma, Osteomalacia, Chondrocalcinosis |
ORPHA:405 |
Primary Fanconi Renotubular Syndrome |
|
Osteomalacia, Bone pain, Weight loss, Increased susceptibility to fractures, Hypophosphatemic ric... |
ORPHA:3337 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Abnormal lymphatic vessel morphology, Hypopnea, Petechiae, Purpura |
ORPHA:2330 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Granulomatous Disease, Chronic, X-Linked |
|
Osteomyelitis, Atelectasis, Recurrent pneumonia, Rectal abscess, Cough, Pleural effusion |
OMIM:306400 |
Otosclerosis 1 |
|
Conductive hearing impairment, Otosclerosis |
OMIM:166800 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Otosclerosis 4 |
|
Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Leptospirosis |
|
Respiratory distress, Pericarditis, Jaundice, Cough, Pleural effusion, Pulmonary hemorrhage |
ORPHA:509 |