Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Disproportionate short-limb short s... |
OMIM:600121 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Single transvers... |
OMIM:227270 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Limited elbow flexion, Abnormal bone ossification, Short palm, S... |
ORPHA:79106 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... |
OMIM:127300 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Microcephaly, Fibular hypoplasi... |
OMIM:612447 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Death in infancy, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, ... |
OMIM:617405 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity... |
OMIM:249700 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... |
OMIM:112910 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... |
ORPHA:93405 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Short stature, Micrognathia, Cleft hard palate, ... |
ORPHA:166016 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Severe short stature, Wid... |
OMIM:619598 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Short stature, Abnormal morphology of ulna, Micromelia, Humeror... |
ORPHA:2019 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ... |
OMIM:156530 |
Thoracomelic Dysplasia |
|
Abnormal fibula morphology, Genu valgum, Bell-shaped thorax, Joint hyperflexibility, Abnormal pel... |
ORPHA:1803 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa... |
ORPHA:2098 |
Chondrodysplasia, Blomstrand Type |
|
Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv... |
OMIM:215045 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... |
OMIM:607778 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in... |
ORPHA:75508 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Temporomandibular joint ... |
OMIM:164900 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Micrognathia, Missing ribs, Joint sti... |
ORPHA:1801 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Short stature, Micromelia, Microcephaly, Postaxial hand polydactyly, Split hand, A... |
ORPHA:2491 |
Brachydactyly Type A1 |
|
Hypoplasia of the ulna, Short stature, Short hallux, Short thumb, Short foot, Cone-shaped epiphys... |
ORPHA:93388 |
Ulnar Hypoplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... |
OMIM:191440 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Delayed vertebral ossification, Metaphyseal dysplasia, Enlarged epiphyses, Thoracic kyphoscoliosi... |
OMIM:613330 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Short stature, Aplasia/Hypoplasia of the fibula, Short foot, Growth delay, Aplasia... |
ORPHA:52056 |
Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Micromelia, Aplasia/... |
ORPHA:2632 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Short stature, Elbow dislocation, Absent radius, ... |
OMIM:171480 |
Mental Retardation Syndrome, Mietens-Weber Type |
|
Pes planus, Elbow flexion contracture, Severe postnatal growth retardation, Forearm undergrowth, ... |
OMIM:249600 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... |
ORPHA:168549 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Talipes, Limited elbow extension, Short metatarsal, Disprop... |
ORPHA:1856 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o... |
OMIM:600002 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Short humerus, Swan neck-like deformities of the fingers, Short stature, Microcephaly, Coxa vara,... |
OMIM:616716 |
Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... |
OMIM:187601 |
Osseous Heteroplasia, Progressive |
|
Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue |
OMIM:166350 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Craniosynostosis, Microcephaly, Orofacial cleft, Forearm undergrowth, Lower limb undergrowth |
OMIM:218650 |
Mesomelic Dysplasia, Savarirayan Type |
|
Abnormal foot morphology, Talipes equinovalgus, Abnormal thorax morphology, Hip dislocation, Fibu... |
OMIM:605274 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Metaphyseal widening, Squared iliac bones, Short long bone, Short ribs, Narrow che... |
OMIM:618961 |
Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili... |
ORPHA:93296 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Short stature, Elbow... |
ORPHA:85170 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Severe short stature, Talipes, Micromelia, Metatars... |
ORPHA:2249 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Short foot, Narrow chest, Mesomelia, Br... |
OMIM:611263 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Short stature, Micrognat... |
OMIM:602471 |
Metaphyseal Anadysplasia 2 |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... |
OMIM:613073 |
Seckel Syndrome 1 |
|
Cerebellar vermis hypoplasia, Dental crowding, Abnormal finger flexion crease, Single transverse ... |
OMIM:210600 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... |
OMIM:228900 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell-shaped long... |
OMIM:151210 |
Fibrochondrogenesis 2 |
|
Thoracic hypoplasia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplast... |
OMIM:614524 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormali... |
ORPHA:2141 |
Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... |
ORPHA:1263 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Mandibular prognathia, Short humerus, Short metacarpal, Rhizomelia, Coxa vara, Genu valgum, Devia... |
ORPHA:2831 |
Achondrogenesis, Type Ib |
|
Micromelia, Hypoplastic ilia, Stillbirth, Short ribs, Absent or minimally ossified vertebral bodi... |
OMIM:600972 |
Van Bogaert-Hozay Syndrome |
|
Tooth malposition, Distal ulnar hypoplasia, Osteolytic defects of the phalanges of the hand, Micr... |
OMIM:277150 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Microphthalmia With Limb Anomalies |
|
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp... |
OMIM:206920 |
Ophthalmoplegia, External, With Rib And Vertebral Anomalies |
|
Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Pseudoarthrosis |
OMIM:618155 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patella morphology, ... |
ORPHA:166002 |
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 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat... |
OMIM:147891 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Thoracic hypoplasia, Later... |
OMIM:269250 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Short stature, Micrognathia, ... |
OMIM:201170 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Metaphyseal widening, Delayed epiphyseal ossification... |
ORPHA:750 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han... |
OMIM:200600 |
Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... |
OMIM:187760 |
Ulnar Hypoplasia With Mental Retardation |
|
Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement |
OMIM:276821 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Micromelia, Delayed epiphyseal ossification, Genu varum, Flared metaphysis, Coxa va... |
OMIM:602557 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Thin upper lip vermilion, Micrognathia, Everted lower lip vermilion, Long... |
ORPHA:357175 |
Metaphyseal Anadysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Abnormality of the lower ... |
ORPHA:1040 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Micrognathia, Bowing of the legs, Mesomelic arm shortening, Mesomelic le... |
OMIM:249710 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Short humerus, Rhizomelia, Optic nerve hypoplasia, Micrognathia, Microcephaly, Submuc... |
OMIM:222765 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Hypoplasia of the ulna, Thin upper lip vermilion, Micrognathia, Downturned corners of mouth, Ever... |
OMIM:615162 |
Acrodysostosis |
|
Mandibular prognathia, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radiu... |
ORPHA:950 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Hypoplasia of the odontoid process, Coxa vara, Pectus carinatum, Short femoral neck, Corner fract... |
OMIM:184255 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Cupped... |
OMIM:250420 |
Atelosteogenesis Type Ii |
|
Micromelia, Micrognathia, Tracheobronchomalacia, Narrow chest, Short phalanx of finger, Hypoplast... |
ORPHA:56304 |
Mietens Syndrome |
|
Hypoplasia of the ulna, Severe short stature, Talipes, Coxa valga, Elbow dislocation, Metatarsus ... |
ORPHA:2557 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Abnormal dental morpholog... |
ORPHA:2878 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short metatarsal, Hypoplasia of the ulna, Short metacarpa... |
OMIM:271700 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, High palate, Clinodactyly of the 5th finger, Short tib... |
OMIM:268305 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... |
ORPHA:440354 |
Acrofacial Dysostosis, Rodríguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird... |
ORPHA:1788 |
Ritscher-Schinzel Syndrome 3 |
|
Relative macrocephaly, Hypoplasia of the ulna, Thin upper lip vermilion, Cerebellar vermis hypopl... |
OMIM:619135 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... |
OMIM:607078 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
Omodysplasia 2 |
|
Short humerus, Tented upper lip vermilion, Bilateral cleft lip, Micrognathia, Fibular hypoplasia,... |
OMIM:164745 |
Fibrochondrogenesis 1 |
|
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior vertebral hyp... |
OMIM:228520 |
Bone Dysplasia, Lethal Holmgren Type |
|
Metaphyseal dysplasia, Rhizomelia, Talipes, Micromelia, Abnormal thumb morphology, Abnormal femur... |
ORPHA:1842 |
Trochlea Of The Humerus, Aplasia Of |
|
Short humerus, Cleft palate |
OMIM:191000 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Hypospadias, Dextrocardia, Malabsorption, Abnorma... |
ORPHA:2315 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in infancy, Iliac crest serration, Micromelia, Wide distal femoral metaphysis, Delayed epip... |
OMIM:613320 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, Mic... |
OMIM:251230 |
Autosomal Dominant Omodysplasia |
|
Short humerus, Rhizomelia, Micrognathia, Elbow dislocation, Patellar dislocation, Short palm, Mal... |
ORPHA:93328 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonatal death, Ve... |
OMIM:108720 |
Achondrogenesis, Type Ii |
|
Microretrognathia, Absent vertebral body mineralization, Barrel-shaped chest, Broad long bones, S... |
OMIM:200610 |
Ulnar Hypoplasia-Split Foot Syndrome |
|
Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna |
ORPHA:1122 |
Orofaciodigital Syndrome Type 10 |
|
Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation of the hand, ... |
ORPHA:2756 |
Astley-Kendall Dysplasia |
|
Epiphyseal stippling, Micromelia |
ORPHA:85175 |
Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Narrow chest, Flared elbow... |
ORPHA:1423 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Hypoplasia of the ulna, Pes planus, Short stature, Tapered finger, Hip dislocation, Obesity, Knee... |
OMIM:618395 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Short stature, Tarsal synostosis, Micromelia, A... |
ORPHA:2639 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Median cleft lip, Short stature, Cleft palate, Polydactyly, High palate, Short tibia |
OMIM:300484 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... |
ORPHA:2347 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Pes planus, Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal ... |
ORPHA:93351 |
Arms, Malformation Of |
|
Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius |
OMIM:107900 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Rib fusion, Unilateral brachydactyly, Short ribs, Sprengel a... |
OMIM:173800 |
Hemidystonia-Hemiatrophy Syndrome |
|
Abnormal basal ganglia MRI signal intensity, Rhizomelic leg shortening, Abnormal paranasal sinus ... |
ORPHA:306741 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Thoracic hypoplasia, Hypoplastic ilia... |
OMIM:187600 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Heyn-Sproul-Jackson Syndrome |
|
11 pairs of ribs, Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals |
OMIM:618724 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Epiphyseal dysplasia, Flat distal femoral epiphysis, Proximal femoral metaphyseal irregularity, C... |
OMIM:609324 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Agenesis of corpus callosum, Hypoplas... |
OMIM:613091 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl... |
ORPHA:93320 |
Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Broad hallux, Micrognathia... |
OMIM:212780 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
Fibular Aplasia-Ectrodactyly Syndrome |
|
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula |
ORPHA:1118 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Micromelia, Pectus excavatum,... |
ORPHA:63446 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Micrognathia, Abnormal shoulder morphology, Long thorax, Mesomelia, Brachydactyly |
ORPHA:1277 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Micromelia, Limitation of joint mobility, Coxa vara, Flared, irregular rib ends, Short palm |
ORPHA:168555 |
Shox-Related Short Stature |
|
Short stature, Micrognathia, Madelung deformity, Obesity, Genu valgum, Short foot, Tibial bowing,... |
ORPHA:314795 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... |
OMIM:617719 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Lateral cla... |
OMIM:617895 |
Thoracic Dysostosis, Isolated |
|
Pectus excavatum, Short ribs, Bell-shaped thorax |
OMIM:187750 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Equinovarus deformity, Meta... |
OMIM:224400 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Thin upper lip vermilion, Ventricular septal defect, Micrognathia, Splenomegaly, Cr... |
ORPHA:1655 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Short stature, Postaxial polydactyly, Micrognathia, Accessory oral frenulum, Hama... |
OMIM:258860 |
Femoral-Facial Syndrome |
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Short femur, Micrognathia, Abnormal rib morphology, Rib fusion, Abnormal fibula morphology, Coxa ... |
ORPHA:1988 |
Greenberg Dysplasia |
|
Micromelia, Micrognathia, Multiple prenatal fractures, Beaded ribs, Patchy variation in bone mine... |
OMIM:215140 |
Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short stature, Hypoplastic ilia, H... |
ORPHA:93333 |
Upper Limb Mesomelic Dysplasia |
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Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger |
ORPHA:2497 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Micrognathia, Cleft upper lip, Hypoplasia of the radiu... |
OMIM:602418 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
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Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Dandy-Walker m... |
OMIM:616300 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Short ... |
ORPHA:2256 |
Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Broad hallux, Short stature, Micrognathia, Carious teeth, Microcephaly, Talon cusp, D... |
OMIM:613684 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
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Radial bowing, Thoracic hypoplasia, Micromelia, Micrognathia, Postaxial polydactyly, Missing ribs... |
OMIM:617866 |
Fetal Akinesia Deformation Sequence 4 |
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11 pairs of ribs, Rocker bottom foot, Micrognathia, Prenatal death, Camptodactyly, Neonatal death... |
OMIM:618393 |
Microphthalmia With Limb Anomalies |
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Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol... |
ORPHA:1106 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Relative macrocephaly, Short humerus, Bowing of the long bones, Osteopenia, Increased bone minera... |
OMIM:239000 |
Achondroplasia |
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Death in infancy, Brachydactyly, Radial bowing, Rhizomelia, Short femur, Limited hip extension, B... |
OMIM:100800 |
Heart-Hand Syndrome Type 2 |
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Aplasia/Hypoplasia of the thumb, Abnormal clavicle morphology, Abnormal morphology of ulna, Micro... |
ORPHA:1350 |
Thoracomelic Dysplasia |
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Bell-shaped thorax, Short ribs |
OMIM:273740 |
Schneckenbecken Dysplasia |
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Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Orofaciodigital Syndrome Ix |
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Toe syndactyly, Median cleft lip, Short stature, Accessory oral frenulum, Abnormality of the dent... |
OMIM:258865 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
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11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c... |
OMIM:300863 |
Clark-Baraitser syndrome |
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Exaggerated median tongue furrow, Genu recurvatum, Tapered finger, Thick lower lip vermilion, Bro... |
OMIM:300602 |
Campomelic Dysplasia |
|
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Short stature, Sm... |
ORPHA:140 |
Congenital Disorder Of Glycosylation, Type Ig |
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Short humerus, Thin upper lip vermilion, Short femur, Rhizomelia, Sandal gap, Small for gestation... |
OMIM:607143 |
Filippi Syndrome |
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Single transverse palmar crease, Microcephaly, 2-4 toe syndactyly, Postnatal growth retardation, ... |
OMIM:272440 |
Saul-Wilson Syndrome |
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Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Short stature, Microgna... |
OMIM:618150 |
Kinsship Syndrome |
|
Mandibular prognathia, Osteopenia, Single transverse palmar crease, Micrognathia, Downturned corn... |
OMIM:619297 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Thoracic scoliosis, ... |
OMIM:613848 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
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Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Decreased fibular diameter, Mi... |
OMIM:616897 |
Pallister-Hall-Like Syndrome |
|
Death in infancy, Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip dislo... |
OMIM:241800 |
Hypophosphatasia, Infantile |
|
Death in infancy, Micromelia, Bowing of the legs, Craniosynostosis, Increased susceptibility to f... |
OMIM:241500 |
Spondyloepiphyseal Dysplasia Congenita |
|
Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, Abnormal foot m... |
ORPHA:94068 |
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 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... |
OMIM:226900 |
Distal Duplication 5Q |
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Hypoplasia of the ulna, Short stature, Craniosynostosis, Absent thumb, Micrognathia, Carious teet... |
ORPHA:96097 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Bowing of the legs, Pectus excavatum, Limb undergrowth, Limited elbow extension, Thoracic hypoplasia |
ORPHA:156728 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Thin upper lip vermilion, Ventricular septal defect, Thyroid lymphangiectasia, Micr... |
OMIM:235255 |
Prieto Syndrome |
|
11 pairs of ribs, Coxa valga, Osteoporosis, Patellar subluxation, Talipes equinovarus, Radial dev... |
OMIM:309610 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Short stature, Microcephaly, Abnormal limb bone morphology, Limb ... |
ORPHA:2204 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... |
ORPHA:363417 |
Atelosteogenesis, Type Ii |
|
Death in infancy, Sandal gap, Micromelia, Micrognathia, Bifid humerus, Lacunar halos around chond... |
OMIM:256050 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Hypoplastic vertebral b... |
OMIM:224300 |
Refractory Celiac Disease |
|
Normocytic anemia, Elevated hepatic transaminase, Villous atrophy, Macrocytic anemia, Malabsorpti... |
ORPHA:398063 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic... |
ORPHA:3258 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Broad long bones, Miscarriage, Micromelia, Bowing of the legs, Micrognathia, Hypoplastic ilia, Fl... |
ORPHA:1865 |
Slc35A2-Cdg |
|
Osteopenia, Cerebral white matter atrophy, Cortical dysplasia, Abnormal long bone morphology, Sho... |
ORPHA:356961 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow chest, Short p... |
OMIM:250220 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
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Short metacarpal, Short stature, Micrognathia, Recurrent patellar dislocation, Capitate-hamate fu... |
OMIM:614078 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Short stature, Microcephaly, Hypoplasia of the... |
OMIM:617604 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Pectus excavatum, Metap... |
OMIM:608728 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora... |
ORPHA:474 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Short metacarpal, Pes planus, Joint stiffness, Avascular necrosis of the ca... |
OMIM:132400 |
Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:142900 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Wide anterior fontanel, Abnormal rib m... |
ORPHA:2021 |
Seckel Syndrome 4 |
|
11 pairs of ribs, Steep acetabular roof |
OMIM:613676 |
Short Stature, Dauber-Argente Type |
|
Long toe, Delayed eruption of teeth, Osteopenia, Arachnodactyly, Short stature, Decreased fibular... |
OMIM:619489 |
Diaphanospondylodysostosis |
|
Missing ribs, Short thorax, Narrow pelvis bone, Enlarged thorax, Absent or minimally ossified ver... |
ORPHA:66637 |
W Syndrome |
|
Hypoplasia of the ulna, Pes planus, Radial bowing, Broad uvula, Elbow dislocation, Metatarsus add... |
ORPHA:2804 |
Diamond-Blackfan Anemia 11 |
|
Hypoplasia of the ulna, Bilateral cleft palate, Short stature, Absent thumb, Unilateral radial ap... |
OMIM:614900 |
Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Epiphyseal dysplasia, Generalized joint laxity, Patellar hypoplasia, Short femoral neck, Irregula... |
OMIM:609325 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Thin ribs, ... |
OMIM:620076 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... |
ORPHA:3320 |
Ophthalmomandibulomelic Dysplasia |
|
Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Elbow dislocation, Temporomandibul... |
ORPHA:2741 |
Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short... |
OMIM:271530 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue... |
ORPHA:958 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Osteoarthritis, Short thorax, Abnormal epiphysis morphology, Micromelia |
ORPHA:93283 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Lateral clavicle hook, Preaxial polydactyly, Femoral bowing, S... |
OMIM:615503 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormal dental morphology, Abnormal morphology of ulna, Short stature, Abnormality of the dentit... |
ORPHA:1837 |
Three M Syndrome 1 |
|
Pes planus, Scapular winging, Pectus excavatum, Short thorax, Hip dislocation, Slender long bone,... |
OMIM:273750 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Odontochondrodysplasia 1 |
|
Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Long philtrum, Genu v... |
OMIM:184260 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ... |
OMIM:614091 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal rib mor... |
ORPHA:1836 |
Ruvalcaba Syndrome |
|
Short metacarpal, Dental crowding, Short stature, Micromelia, Microcephaly, Limited elbow extensi... |
OMIM:180870 |
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 |
Boomerang Dysplasia |
|
Severe short stature, Absent radius, Hypoplastic iliac body, Neonatal death, Fibular aplasia |
OMIM:112310 |
Metaphyseal Acroscyphodysplasia |
|
Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga... |
ORPHA:1240 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
3M Syndrome |
|
Delayed eruption of teeth, Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, ... |
ORPHA:2616 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Short stature, Single transverse palmar crease, Microcephaly, Adducted thumb, Notched primary cen... |
OMIM:620062 |
Otoonychoperoneal Syndrome |
|
Knee flexion contracture, Hip contracture, Ankle flexion contracture, Aplasia/Hypoplasia of the f... |
OMIM:259780 |
Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Partial agenesis of the corpus callosum, Cone-shaped epiphys... |
ORPHA:420794 |
Campomelic Dysplasia |
|
Irregular dentition, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patel... |
OMIM:114290 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Preaxial hand ... |
ORPHA:3312 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Hypoplasia of the ulna, Abnormality of the dentition, Large for gestational age, Deep... |
OMIM:615398 |
Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Abnormality of the elbow, Abnorma... |
ORPHA:429 |
Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... |
OMIM:252600 |
Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Rhizomelia, Short stature, Micromelia, Micrognathia, Elbow dis... |
ORPHA:93329 |
Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Non-midline cle... |
ORPHA:246 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... |
ORPHA:1190 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Microcephal... |
ORPHA:1352 |
Rhizomelic Chondrodysplasia Punctata |
|
Rhizomelia, Short stature, Abnormality of the dentition, Microcephaly, Growth delay, Epiphyseal s... |
ORPHA:177 |
Craniosynostosis With Fibular Aplasia |
|
Single transverse palmar crease, Craniosynostosis, Fibular aplasia |
OMIM:218550 |
Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones, Micromelia |
OMIM:211990 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of the hand, Abn... |
OMIM:271665 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... |
ORPHA:3003 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... |
ORPHA:1860 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h... |
ORPHA:3344 |
Thoracopelvic Dysostosis |
|
Short ribs |
OMIM:187770 |
Blomstrand Lethal Chondrodysplasia |
|
Short metacarpal, Bowing of the long bones, Rhizomelia, Increased bone mineral density, Aplastic ... |
ORPHA:50945 |
Laron Syndrome |
|
Limb undergrowth, Short long bone |
OMIM:262500 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Short femur, Bilateral cleft lip, Absent septum pellucidum, Cleft upper l... |
OMIM:601357 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Selective tooth agenesis, Reduced bone mineral density, Microdontia, Hypoplasia of th... |
ORPHA:2909 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... |
ORPHA:1802 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Micrognathia, Partial agenesis of the corpus callosum, Osteopathia striata, Cran... |
OMIM:300373 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Bowing of the long bones, Micrognathia, Metaphyseal chondrodysplasia... |
OMIM:156400 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Hypoproteinemia, Chorioretinal coloboma, Malabsorption |
ORPHA:1116 |
Atelosteogenesis Type Iii |
|
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Abnormality of the humerus, Sh... |
ORPHA:56305 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Joint stiffness, Abnormal ... |
ORPHA:2635 |
Orofaciodigital Syndrome Vi |
|
Cerebellar vermis hypoplasia, Micrognathia, Porencephalic cyst, Tibial bowing, Lobulated tongue, ... |
OMIM:277170 |
Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... |
ORPHA:1426 |
Paget Disease Of Bone 2, Early-Onset |
|
Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Femoral bowing, I... |
OMIM:602080 |
Acrocephalopolydactyly |
|
Genu recurvatum, Short long bone, Limb undergrowth, Thoracic hypoplasia, Brachydactyly |
ORPHA:221054 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Abnormal metacarpal morphology, Abnormal epiph... |
ORPHA:2631 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Orofaciodigital Syndrome X |
|
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Retrogna... |
OMIM:165590 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Ulnar bowing, Osteoarthritis, Flared metaphysis, Coxa vara, Tibial bow... |
OMIM:602111 |
Juberg-Hayward Syndrome |
|
Toe syndactyly, Severe short stature, Microcephaly, Short thumb, Hypoplasia of the radius, Abnorm... |
ORPHA:2319 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:615895 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib... |
ORPHA:2751 |
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Mandibular prognathia, Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia |
ORPHA:2252 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Pericardial effusion, Func... |
ORPHA:90362 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Abnormal paranasal sinus morphology, Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia |
OMIM:207731 |
Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia, Malabsorption |
OMIM:152800 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Pes planus, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses of the phal... |
OMIM:609616 |
Melnick-Needles Syndrome |
|
Obtuse angle of mandible, Micrognathia, Tibial bowing, Cone-shaped epiphyses of the phalanges of ... |
OMIM:309350 |
Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Malar flattening, Micrognathia, Limited kn... |
OMIM:258315 |
Cousin Syndrome |
|
Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger... |
OMIM:260660 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Severe short stature, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, Bro... |
OMIM:609052 |
Cohen Syndrome |
|
Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Sh... |
OMIM:216550 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Intestinal obstruction, Malabsorption, Iron deficiency anemia, Abnormal intestine m... |
OMIM:226300 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Cerebellar vermis hypoplasia, Micrognathia, Femoral bowing, Abnormal... |
OMIM:274000 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Abnormality of the dentition, Hand oligodactyly, Cleft... |
ORPHA:3104 |
Codas Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse... |
OMIM:600373 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon... |
OMIM:605282 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... |
ORPHA:2633 |
Ellis-Van Creveld Syndrome |
|
Capitate-hamate fusion, Postaxial hand polydactyly, Genu valgum, Postaxial foot polydactyly, Pect... |
OMIM:225500 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Narr... |
OMIM:600920 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Conical tooth, Shor... |
OMIM:263750 |
Blount Disease |
|
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... |
ORPHA:2768 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia, Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration |
OMIM:221400 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Short palm, Duplication of the distal ... |
OMIM:268310 |
Phocomelia, Schinzel Type |
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Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ... |
ORPHA:2879 |
Ménétrier Disease |
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Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... |
ORPHA:2494 |
Hyperparathyroidism, Transient Neonatal |
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Osteopenia, Short femur, Metaphyseal spurs, Recurrent fractures, Undulate ribs, Femoral bowing, T... |
OMIM:618188 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
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Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Elevated hepatic transaminase, Sp... |
OMIM:603553 |
Coxoauricular Syndrome |
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Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe... |
ORPHA:1508 |
Beta-Thalassemia |
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Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... |
ORPHA:848 |
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema |
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Diastema, Hypoplasia of the radius, Nonopposable triphalangeal thumb |
OMIM:179250 |
Osteogenesis Imperfecta, Type Ii |
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Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Absent ossification of c... |
OMIM:166210 |
Congenital Varicella Syndrome |
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Intrauterine growth retardation, Cerebral cortical atrophy, Micromelia, Microcephaly |
ORPHA:291 |
Pelvis-Shoulder Dysplasia |
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Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Long clavicles, ... |
ORPHA:2839 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
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Small for gestational age, Short stature, Reduced bone mineral density, Delayed ossification of c... |
OMIM:618392 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
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Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Elbow d... |
ORPHA:1275 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
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Short metacarpal, Brachydactyly, Sandal gap, Short stature, Postaxial polydactyly, Carious teeth,... |
OMIM:617102 |
Hypochondroplasia |
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Brachydactyly, Aplasia/hypoplasia of the extremities, Flared metaphysis, Short long bone, Short f... |
OMIM:146000 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
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Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Cupped r... |
ORPHA:1145 |
Cranioectodermal Dysplasia 1 |
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Single transverse palmar crease, High, narrow palate, High palate, Widely spaced teeth, Microdont... |
OMIM:218330 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
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Bowing of the long bones, Bulging epiphyses, Thin bony cortex, Rickets of the lower limbs, Delaye... |
OMIM:600785 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Cerebellar vermis hypoplasia, Single transverse palmar crease, Micromelia, Micrognathia, Delayed ... |
OMIM:210710 |
Odontochondrodysplasia |
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Death in infancy, Bowing of the long bones, Micromelia, Coxa valga, Cone-shaped epiphysis, Joint ... |
ORPHA:166272 |
Otopalatodigital Syndrome Type 2 |
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Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Anodontia, Synostosis ... |
ORPHA:90652 |
Acromesomelic Dysplasia, Maroteaux Type |
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Bowing of the long bones, Joint stiffness, Joint hyperflexibility, Acromesomelia, Sprengel anomal... |
ORPHA:40 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
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Mandibular prognathia, Micrognathia, Knee dislocation, High palate, Amelogenesis imperfecta, Micr... |
OMIM:618363 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
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Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
Mesomelia-Synostoses Syndrome |
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Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo... |
ORPHA:2496 |
Metaphyseal Chondrodysplasia, Schmid Type |
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Irregular acetabular roof, Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia... |
OMIM:156500 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
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Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Bi... |
OMIM:601356 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
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Osteopenia, Hip contracture, Death in infancy, Toe syndactyly, Elbow flexion contracture, 2-3 toe... |
OMIM:616809 |
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 |
Meier-Gorlin Syndrome 1 |
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Genu recurvatum, Micrognathia, Lateral clavicle hook, Flat glenoid fossa, Flexion contracture, Pe... |
OMIM:224690 |
Florid Cemento-Osseous Dysplasia |
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Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... |
ORPHA:83451 |
Biliary Atresia, Extrahepatic |
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Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Postaxial polydactyly, Micrognathia, Lateral clavicle hook, Wide anterior fontanel, Preaxial poly... |
OMIM:617925 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
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Hypoproteinemia, Hepatomegaly, Elevated hepatic transaminase, Ventricular septal defect, Elevated... |
ORPHA:26793 |
Hall-Riggs Syndrome |
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Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Microcephaly, Downtu... |
ORPHA:2107 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
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Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Short t... |
ORPHA:968 |
Nievergelt Syndrome |
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Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal... |
OMIM:163400 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
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Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Alpha-Thalassemia |
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Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Stuve-Wiedemann Syndrome 1 |
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Single transverse palmar crease, Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contra... |
OMIM:601559 |
Weismann-Netter Syndrome |
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Severe short stature, Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibula... |
OMIM:112350 |
Terminal Osseous Dysplasia |
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Syndactyly, Camptodactyly of finger, Accessory oral frenulum, Abnormal hand bone ossification, Sh... |
OMIM:300244 |
Postaxial Oligodactyly, Tetramelic |
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Radial bowing, Aplasia of the 5th metacarpal, Absent fifth metatarsal, Postaxial hand polydactyly... |
OMIM:176240 |
Citrullinemia Type Ii |
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Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyper... |
ORPHA:247585 |
Cleidocranial Dysplasia 1 |
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Micrognathia, Absent frontal sinuses, Short middle phalanx of the 2nd finger, Coxa vara, Narrow c... |
OMIM:119600 |
Acrorenal-Mandibular Syndrome |
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Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h... |
OMIM:200980 |
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 |
Acro-Renal-Ocular Syndrome |
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Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... |
ORPHA:959 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
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Genu recurvatum, Tibial bowing, Knee dislocation, Shoulder dislocation, High palate, Widely space... |
OMIM:143095 |
Achondrogenesis Type 1B |
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Severe short stature, Micromelia, Micrognathia, Abnormal enchondral ossification, Disproportionat... |
ORPHA:93298 |
Meier-Gorlin Syndrome 3 |
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Microretrognathia, Absent sternal ossification, Micrognathia, Aplasia/Hypoplasia of the patella, ... |
OMIM:613803 |
Diastrophic Dysplasia |
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Bowing of the long bones, Cerebral calcification, Increased bone mineral density, Camptodactyly o... |
ORPHA:628 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
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Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Finger syndac... |
OMIM:308050 |
Distal Deletion 17Q |
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Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Short stature, Micromelia, Microcep... |
ORPHA:1597 |
Epiphyseal Dysplasia, Baumann Type |
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Carpal bone aplasia, Epiphyseal dysplasia, Joint laxity, Pes planus, Hypoplasia of the femoral he... |
OMIM:610797 |
Laurin-Sandrow Syndrome |
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Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... |
ORPHA:2378 |
Ollier Disease |
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Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis... |
ORPHA:296 |
Congenital Disorder Of Glycosylation, Type Ij |
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Elevated hepatic transaminase, Micrognathia, Cryptorchidism, Jaundice, Hypoproteinemia |
OMIM:608093 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
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Short stature, Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Sti... |
OMIM:119800 |
Oligodontia |
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Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
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Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl... |
OMIM:211600 |
Ring Chromosome 4 Syndrome |
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Aplasia/Hypoplasia of the radius, Split hand, Abnormal morphology of ulna |
ORPHA:1447 |
Dengue Fever |
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Gastrointestinal hemorrhage, Hepatomegaly, Leukopenia, Gingival bleeding, Hypoproteinemia, Thromb... |
ORPHA:99828 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D... |
OMIM:263520 |
Platyspondylic Dysplasia, Torrance Type |
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Bowing of the long bones, Hypoplastic scapulae, Micromelia, Short thorax, Abnormal carpal morphol... |
ORPHA:85166 |
Short-Rib Thoracic Dysplasia 12 |
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Hypoplastic scapulae, Bowing of the legs, Short toe, Short thorax, Short foot, Short long bone, T... |
OMIM:269860 |
Cerebrocostomandibular Syndrome |
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Congenital hip dislocation, Micrognathia, Porencephalic cyst, Glossoptosis, High palate, Clinodac... |
OMIM:117650 |
Multiple Epiphyseal Dysplasia Type 4 |
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Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, High p... |
ORPHA:93307 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
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Short metacarpal, Rhizomelia, Joint stiffness, Cupped ribs, Metaphyseal widening, Coxa vara, Tibi... |
OMIM:608940 |
Marshall Syndrome |
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Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Meningeal calcification, Clinodactyly ... |
OMIM:154780 |
Chédiak-Higashi Syndrome |
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Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Hypo... |
ORPHA:167 |
Achondrogenesis Type 1A |
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Severe short stature, Micromelia, Micrognathia, Abnormal enchondral ossification, Macrocephaly, S... |
ORPHA:93299 |
Anemia, Congenital Dyserythropoietic, Type Ii |
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Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Poland Syndrome |
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Aplasia/Hypoplasia of the thumb, Reduced bone mineral density, Pectus carinatum, Abnormal sternum... |
ORPHA:2911 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
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Short stature, Upper limb undergrowth, Short foot, Toe clinodactyly, Abnormal cortical bone morph... |
ORPHA:166277 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
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Small cervical vertebral bodies, Brachydactyly, Abnormal acetabulum morphology, Long clavicles, P... |
ORPHA:397715 |
Omenn Syndrome |
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Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Otopalatodigital Syndrome, Type Ii |
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Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ... |
OMIM:304120 |
Weaver Syndrome |
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Short fourth metatarsal, Calcaneovalgus deformity, Hypoplastic iliac wing, Prominent fingertip pa... |
OMIM:277590 |
Pyruvate Kinase Deficiency Of Red Cells |
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Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina... |
OMIM:266200 |
Osteosclerosis With Ichthyosis And Fractures |
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Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
Radial Hemimelia |
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Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H... |
ORPHA:93321 |
Acrorenal Syndrome |
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Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A... |
ORPHA:971 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... |
OMIM:181450 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Broad femoral neck, Thenar muscle atrophy, Flat capital femoral epiphysis, Tapered fi... |
ORPHA:157965 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Failure to thrive, Small for gestational age, Short stature, Hypoplasia of the maxill... |
OMIM:608154 |
Catel-Manzke Syndrome |
|
Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th... |
OMIM:616145 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of the legs, Metaph... |
ORPHA:2502 |
C Syndrome |
|
Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Short stature, Micromelia, ... |
OMIM:211750 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Brachydactyly, Rhizomelia, Short stature, Micrognathia, Abnormality of t... |
ORPHA:3098 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Short stature, Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Furrowed tongue, T... |
ORPHA:2928 |
Achondrogenesis |
|
Severe short stature, Micromelia, Micrognathia, Abnormal enchondral ossification, Abnormality of ... |
ORPHA:932 |
Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Pes ... |
OMIM:607323 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Bicuspid aortic valve, Ventric... |
ORPHA:210122 |
Mesomelic Dysplasia, Kantaputra Type |
|
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia |
OMIM:156232 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
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Short humerus, Proximal placement of thumb, Absent radius, Hand polydactyly, Neonatal death |
OMIM:314390 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia... |
ORPHA:231222 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Short lingual frenulum, Short long bone, Widely spa... |
OMIM:619479 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Thoracic scoliosis, Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip ... |
ORPHA:166011 |
Caroli Disease |
|
Cholangiocarcinoma, Hepatomegaly, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... |
ORPHA:53035 |
Achondroplasia |
|
Rhizomelia, Thoracic hypoplasia, Bowing of the legs, Short proximal phalanx of finger, Hip joint ... |
ORPHA:15 |
Osteogenesis Imperfecta, Type Xvi |
|
Microretrognathia, Angulated humerus, Bowing of the long bones, Osteopenia, Rhizomelia, Recurrent... |
OMIM:616229 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Capitate-hamate fusion, Short metata... |
OMIM:271650 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... |
OMIM:600803 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Broad long bones, Dental crowding, Short stature, Fifth finger distal ... |
OMIM:257850 |
Nail-Patella Syndrome |
|
Pes planus, Glenoid fossa hypoplasia, Pectus excavatum, Patellar aplasia, Hypoplastic radial head... |
OMIM:161200 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Micrognathia, Leukopenia, Protein-losing en... |
OMIM:619991 |
Becker Nevus Syndrome |
|
Micromelia, Lower limb asymmetry, Pectus excavatum, Abnormal tibia morphology, Rib fusion, Pectus... |
ORPHA:64755 |
Nephrotic Syndrome, Type 1 |
|
Pyloric stenosis, Hyperlipidemia, Gastroesophageal reflux, Hypoalbuminemia, Hypoproteinemia |
OMIM:256300 |
Dysostosis, Stanescu Type |
|
Bowing of the long bones, Cerebral calcification, Increased bone mineral density, Abnormal dental... |
ORPHA:1798 |
Cerebellofaciodental Syndrome |
|
Pes planus, Short stature, Single transverse palmar crease, Tapered finger, Hypoplasia of the pon... |
OMIM:616202 |
Immunodeficiency 43 |
|
Hypoplasia of the ulna, Radial bowing |
OMIM:241600 |
Dyggve-Melchior-Clausen Disease |
|
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Pectus... |
OMIM:223800 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Elevated circulating creatine kinase concent... |
ORPHA:79095 |
Radial Ray Hypoplasia With Choanal Atresia |
|
Short thumb, Small thenar eminence, Hypoplasia of the radius, Distally placed thumb |
OMIM:179270 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, High palate, Agenesis of corpus callos... |
OMIM:218600 |
Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Increased bone mineral density, Periapical tooth abscess, Enamel hypominerali... |
ORPHA:3352 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He... |
ORPHA:65682 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... |
OMIM:235700 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th... |
OMIM:600081 |
Atkin-Flaitz Syndrome |
|
Short stature, Abnormality of the dentition, Obesity, Thick vermilion border, Everted lower lip v... |
ORPHA:1193 |
Fanconi Anemia, Complementation Group W |
|
Microcephaly, Absent thumb, Hypoplasia of the radius, Growth delay, Abnormal radial ray morpholog... |
OMIM:617784 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Micromelia |
OMIM:273680 |
Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Metaphyseal widening, Short metatarsal, Coxa vara, Genu ... |
OMIM:251450 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Severe short stature, Bowed humerus, Short tubular bones of the hand, Tibi... |
OMIM:184253 |
Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Micrognathia, Postnatal growth retardation, Narrow mouth, Humero... |
ORPHA:3404 |
Hypertrichosis Cubiti |
|
Severe short stature, Rhizomelia, Micromelia, Microcephaly, Abnormality of the elbow |
ORPHA:2220 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, High palate, Aplasia/Hy... |
OMIM:276820 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Missing ribs, Short thorax, Abnormal rib morphology, Posterior rib fusion, Spina bifida occulta |
ORPHA:1797 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia, Giant hypertrophic gastritis |
OMIM:137280 |
Protoporphyria, Erythropoietic, X-Linked |
|
Elevated hepatic transaminase, Iron deficiency anemia, Cholelithiasis, Increased erythrocyte prot... |
OMIM:300752 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Micrognathia, Short philtrum, Delayed puberty, Clinodactyly of the 5th fi... |
ORPHA:52 |
Caffey Disease |
|
Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon... |
OMIM:114000 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Abnormality... |
ORPHA:3035 |
Acromesomelic Dysplasia 1 |
|
Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the radius, Short met... |
OMIM:602875 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Redu... |
ORPHA:1488 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Microcephaly, Thick corpus callosum, Genu valgum, Wide mouth, Growth delay, Macrocep... |
OMIM:617798 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Short stature, Gingival overgrowth, R... |
ORPHA:508542 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Rhiz... |
OMIM:618019 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Severe short stature, Micromelia, Microcephaly, Increased sku... |
ORPHA:1422 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... |
ORPHA:69663 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Metaphyseal widening, Delayed epiphyseal ossification, Short met... |
ORPHA:93314 |
Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Abnormally o... |
ORPHA:1427 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Missing ribs, Abnormal... |
ORPHA:3186 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Short stature, Humeroradial synost... |
OMIM:134780 |
Sickle Cell Disease |
|
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... |
OMIM:603903 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Micrognathia, Flexion contracture, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Short tib... |
ORPHA:96334 |
Fanconi Anemia, Complementation Group O |
|
Short stature, Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia of the radius, ... |
OMIM:613390 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Thoracic hypoplasia, Bowing of the legs, Metaphyseal widening, Delayed epiphyseal o... |
ORPHA:93352 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Female hypogonadism, Malabsorpt... |
OMIM:240300 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Portal hypertension, Conjugated hyp... |
ORPHA:567983 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti... |
ORPHA:3202 |
Zimmermann-Laband Syndrome |
|
Hepatomegaly, Abnormal external genitalia, Micrognathia, Splenomegaly, Supernumerary tooth, Gingi... |
ORPHA:3473 |
Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Dental crowding, Proximal placement of thumb, Micromelia, Microc... |
ORPHA:3121 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro... |
ORPHA:2519 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Hy... |
OMIM:601346 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, High palate, Short phalanx of finger, Bifid uvula, Dislocated radial head, Short meta... |
OMIM:612350 |
Fanconi Anemia, Complementation Group U |
|
Absent thumb, Absent radius, Microcephaly, Hypoplasia of the radius, Aplasia of the 1st metacarpa... |
OMIM:617247 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Biliary atresia, Chol... |
OMIM:615710 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Short femur, Short stature, Microcephaly, Tapered finger, Hypoplasia of the corpus... |
OMIM:618367 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Prominence of the premaxilla, Abnormality of the male genitalia, H... |
OMIM:614886 |
Intellectual Disability And Myopathy Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Achilles tendon contracture, Dental maloccl... |
OMIM:619719 |
Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Short stature, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of... |
ORPHA:1765 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi... |
OMIM:619636 |
Pycnodysostosis |
|
Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Generalized osteosclerosis, Hi... |
ORPHA:763 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Abnormal basal ganglia MRI signal intensity, Short humerus, Short femur, Microcephaly, Orofacial ... |
ORPHA:17 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... |
ORPHA:232 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Micromelia, Microcephaly, Decreased calvarial ossification, Disproportionate short-limb short sta... |
ORPHA:2772 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
11 pairs of ribs, Broad hallux, Clinodactyly of the 2nd toe, Micrognathia, Coxa valga, Short dist... |
OMIM:620073 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Osteopenia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,... |
OMIM:166250 |
Grant Syndrome |
|
Tibial bowing, Down-sloping shoulders, Micrognathia |
OMIM:138930 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal pelvic gi... |
ORPHA:3429 |
Fatco Syndrome |
|
Finger syndactyly, Short stature, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absen... |
ORPHA:2492 |
Hyperbiliverdinemia |
|
Cholelithiasis, Elevated circulating biliverdin concentration, Decreased liver function, Cholestasis |
OMIM:614156 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Mandibular prognathia, Relative macrocephaly, Rhizomelia, Metaphyseal widening, Irregular epiphys... |
OMIM:612813 |
Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
Cardioacrofacial Dysplasia 2 |
|
Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Recurr... |
OMIM:619143 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion con... |
OMIM:271640 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Small for gestational age, Rocker bottom foot, Micrognathia, Talipes equinovalgus, Tibial bowing,... |
ORPHA:453510 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Down-sloping shoulders, Plantar pits, Irregular ossification of hand bones, Abn... |
OMIM:109400 |
Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Conical tooth, Postaxial polydactyly, Hypoplasia of the maxilla, Diastem... |
OMIM:619142 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Microdontia, Ra... |
OMIM:210720 |
Image Syndrome |
|
Metaphyseal dysplasia, Micromelia |
ORPHA:85173 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... |
OMIM:182900 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Micrognathia, Short metatarsal, Narrow chest, Clinodactyly of the 5th finger, Short p... |
OMIM:266920 |
8P Inverted Duplication/Deletion Syndrome |
|
Dextrocardia, Micrognathia, Precocious puberty, High, narrow palate, Cryptorchidism, Abnormality ... |
ORPHA:96092 |
Intellectual Disability, Birk-Barel Type |
|
Tented upper lip vermilion, Foot joint contracture, Micrognathia, High, narrow palate, Incisor ma... |
ORPHA:166108 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Short stature, Cleft soft p... |
OMIM:616331 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Thin upper lip vermilion, Short stature, Micrognathia, Microcephaly, Small hand, Obesity, Fibular... |
ORPHA:444077 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Pes planus, Thin bony cortex, Rhizomelia, Femoral bowing, Thoracic kyphosis, Short 4th metacarpal... |
OMIM:619638 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract... |
ORPHA:3103 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Talipes, Single transverse palmar crease, Microcephaly, Partial agenes... |
ORPHA:79243 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Short stature, Single transverse palmar crease, Microcephaly, Cleft palate, Thin vermilion border... |
OMIM:615502 |
Atelosteogenesis, Type Iii |
|
Radial bowing, Rhizomelia, Sandal gap, Micrognathia, Elbow dislocation, Tombstone-shaped proximal... |
OMIM:108721 |
Mohr Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Porencephalic cyst, Lobulated tongue, High palate, Short... |
OMIM:252100 |
Autosomal Erythropoietic Protoporphyria |
|
Microcytic anemia, Abnormal circulating porphyrin concentration, Decreased liver function, Cirrho... |
ORPHA:79278 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
11 pairs of ribs, Osteopenia, Sandal gap, Pectus excavatum, Short toe, Prominent sternum, Clinoda... |
OMIM:617877 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased circulating ferritin concentrati... |
OMIM:194380 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Bowing... |
OMIM:277440 |
Nager Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of the maxilla, Abnormality of the lowe... |
ORPHA:245 |
Kniest Dysplasia |
|
Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Pectus excavatum, Abnormal cartilage coll... |
OMIM:156550 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Cholelithiasis |
OMIM:605479 |
Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Syndactyly, Optic nerve hypoplasia, Cleft upper lip, Preaxial ... |
OMIM:603671 |
4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Micromelia, Abnormality of the dentition, Small hand, Short foot, Downturned corn... |
ORPHA:238750 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Limb undergrowth, Abnormal metaphysis morphology, Narrow chest |
ORPHA:1861 |
Noonan Syndrome 12 |
|
11 pairs of ribs, Pectus excavatum, Proximal placement of thumb |
OMIM:618624 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Osteopathia str... |
ORPHA:93357 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... |
ORPHA:199306 |
Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ... |
OMIM:184705 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G... |
OMIM:300106 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Short stature, Microcephaly, Abnormal carpal morphology, Madelung deformity, Obesity, Severe post... |
ORPHA:319675 |
Pancreatic Colipase Deficiency |
|
Megaloblastic anemia, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insuffi... |
ORPHA:309108 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Aplasia/Hypoplasia of the thumb, Short stature, Abnormal morphology of ulna, T... |
ORPHA:1307 |
Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Micromelia, Bowing of the legs, Micrognathia, Metaphyseal widening, D... |
OMIM:255800 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Short stature, Osteomalacia, Bowing of the legs, Enamel hypomineral... |
OMIM:307800 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Sandal gap, Arachnodactyly, Micromelia, Short stature, Obesity, Genu valgum, High palate |
ORPHA:1035 |
Lowry-Maclean Syndrome |
|
Osteopenia, Single transverse palmar crease, Delayed eruption of primary teeth, Micrognathia, Hyp... |
ORPHA:2409 |
Schisis Association |
|
Small for gestational age, Micromelia, Microcephaly, Anencephaly, Cleft palate, Unilateral cleft lip |
ORPHA:63862 |
Cdags Syndrome |
|
Sagittal craniosynostosis, Short ribs, Lambdoidal craniosynostosis, Short clavicles, Coronal cran... |
OMIM:603116 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Short stature, Micromelia, Micrognathia, Craniosynostosis, Split hand, Cleft p... |
ORPHA:2145 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... |
ORPHA:2929 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Zollinger-Ellison syndrome, Stomatitis, Cholelithiasis, Abnormal biliar... |
ORPHA:438274 |
Nance-Horan Syndrome |
|
Diastema, Mulberry molar, Broad finger, Supernumerary maxillary incisor, Screwdriver-shaped incis... |
OMIM:302350 |
Mulibrey Nanism |
|
Hepatomegaly, Dental crowding, Cardiomegaly, Absent frontal sinuses, Hypoplastic frontal sinuses,... |
OMIM:253250 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Severe short stature, Micromelia, Micrognathia, Microcephaly, Short lon... |
OMIM:224410 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Fanconi Anemia |
|
Micrognathia, Abnormal femur morphology, Reduced bone mineral density, High palate, Triphalangeal... |
ORPHA:84 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short tibia, Short femur, Talipes equinovarus, Cerebral atrophy |
OMIM:620306 |
Retinitis Pigmentosa 89 |
|
Retinal thinning, Bicuspid aortic valve, Micronodular cirrhosis, Esophageal varix, Hepatosplenome... |
OMIM:618955 |
Ulnar-Mammary Syndrome |
|
Abnormal morphology of the radius, Short stature, Camptodactyly of finger, Abnormality of the hum... |
ORPHA:3138 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Jaundice, ... |
OMIM:232800 |
Occipital Horn Syndrome |
|
Short humerus, Pes planus, Pelvic bone exostoses, Coxa valga, Capitate-hamate fusion, Osteoporosi... |
OMIM:304150 |
Micromelic Bone Dysplasia With Cloverleaf Skull |
|
Micromelia |
OMIM:156830 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Hypopituitarism, Conjugated hyperbilirubinemia, Sple... |
ORPHA:30391 |
Fanconi Anemia, Complementation Group I |
|
Short stature, Absent septum pellucidum, Optic nerve hypoplasia, Absent thumb, Microcephaly, Shor... |
OMIM:609053 |
Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Wrist flexion c... |
OMIM:268300 |
Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Absent in utero... |
OMIM:608022 |
Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia, Anal atresia, Exocrine pancreatic insufficiency |
OMIM:260450 |
Dysspondyloenchondromatosis |
|
Cerebral calcification, Short stature, Lower limb asymmetry, Abnormal fibula morphology, Genu val... |
ORPHA:85198 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met... |
ORPHA:1540 |
Fanconi Anemia, Complementation Group P |
|
Short stature, Microcephaly, Absent thumb, Short thumb, Micrognathia, Hypoplasia of the radius, G... |
OMIM:613951 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Bowing... |
OMIM:264700 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Arachnodactyly, Missing ribs, Abnormal rib morphology, Joint hyperflexibility, Clinodactyly of th... |
ORPHA:2759 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Sialuria |
|
Elevated hepatic transaminase, Hepatomegaly, Thin upper lip vermilion, High, narrow palate, Hepat... |
ORPHA:3166 |
Tarp Syndrome |
|
Failure to thrive, Cerebellar vermis hypoplasia, Single transverse palmar crease, Rocker bottom f... |
OMIM:311900 |
Meckel Syndrome, Type 9 |
|
Limb undergrowth, Talipes equinovarus |
OMIM:614209 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th... |
OMIM:241530 |
Hereditary Spherocytosis |
|
Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Spleno... |
ORPHA:822 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Mandibular prognathia, Osteopenia, Short metatarsal, Long philtrum, Short metacarpal, Rhizomelia,... |
OMIM:614813 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly, T... |
ORPHA:858 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithias... |
OMIM:611881 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity,... |
ORPHA:457395 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Papilledema, Ventricular septal defect, Elevated circulating creatine kinase concentration, Peric... |
OMIM:618775 |
Xylt1-Cdg |
|
Relative macrocephaly, Pes planus, Short stature, Coxa valga, Microcephaly, Flared metaphysis, Cl... |
ORPHA:370930 |
Pelger-Huet Anomaly |
|
Abnormality of the dentition, Upper limb undergrowth, Gingival overgrowth, Macrocephaly, Polydact... |
OMIM:169400 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
11 pairs of ribs, Hip contracture, Micrognathia, Metatarsus adductus, Calcaneovalgus deformity, E... |
OMIM:616266 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Microretrognathia, Pes planus, Scapular winging, Short stature, Single transverse palmar crease, ... |
OMIM:618870 |
Protoporphyria, Erythropoietic, 1 |
|
Hemolytic anemia, Hypertriglyceridemia, Cholelithiasis, Hepatic failure |
OMIM:177000 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Severe short stature, Abnormal dental morphology, Camptodactyly of finger, Micromelia... |
ORPHA:2176 |
Aminopterin/Methotrexate Embryofetopathy |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Talipes... |
ORPHA:1908 |
Familial Adenomatous Polyposis |
|
Duodenal polyposis, Multiple gastric polyps, Congenital hypertrophy of retinal pigment epithelium... |
ORPHA:733 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Abnormality ... |
ORPHA:2919 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Downturned corners of mouth, Agenesis of corpus callosum, Dandy-Walker malformation... |
OMIM:264090 |
Thoraco-Abdominal Enteric Duplication |
|
Camptodactyly of finger, Missing ribs |
ORPHA:1759 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Micrognathia, Pectus carinatum, Knee dislocation, Shoulder dislocation, Narrow chest,... |
OMIM:245600 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Missing ribs, Pectus carinatum, Posterior rib fusion, Supernumerary ribs |
OMIM:122600 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Intrahepatic cholestasi... |
OMIM:602347 |
Cree Mental Retardation Syndrome |
|
Aplasia/Hypoplasia of the ribs, Rocker bottom foot, Micrognathia, Pectus excavatum, Cutaneous fin... |
OMIM:606851 |
Acrofacial Dysostosis 1, Nager Type |
|
Hallux valgus, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Broad hallux, Overlapping toe, Mi... |
OMIM:154400 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Failure to thrive, Short stature, Microcephaly, Hip dislocation, High palate, Limb un... |
OMIM:618005 |
Peutz-Jeghers Syndrome |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In... |
ORPHA:2869 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Thin upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Cryptor... |
OMIM:300534 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Mandibular prognathia, Relative macrocephaly, Brachydactyly, Osteopenia, Rhizomelia, Abnormality ... |
OMIM:271510 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Mandibular prognathia, Pes planus, Cerebellar vermis hypoplasia, Genu recurvatum, Slender build, ... |
ORPHA:364028 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Abnormal retinal morphology, Dysphagia, Atrial septal defect, Hypoplastic sple... |
ORPHA:89844 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Hypoalbuminemia, Hepatic fibrosis, Neoplas... |
ORPHA:171 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenom... |
OMIM:235200 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Malabsorption, Splenome... |
ORPHA:79301 |
Pentalogy Of Cantrell |
|
Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Hypospadias, Non-... |
ORPHA:1335 |
Al-Gazali Syndrome |
|
Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Micrognathia, Bilateral talipes equin... |
OMIM:609465 |
Focal Dermal Hypoplasia |
|
Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Lower limb asymmetry, Split hand, Spl... |
ORPHA:2092 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Abnormal oral mucosa morphology, Micromelia, Abnormality of the dentit... |
ORPHA:289 |
Cerebellar-Facial-Dental Syndrome |
|
Failure to thrive, Severe short stature, Foot joint contracture, Single transverse palmar crease,... |
ORPHA:444072 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation, Supernumerary tooth, Oligodontia, Abnormality of the dentition |
ORPHA:1264 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Relative macrocephaly, Broad hallux, Sandal gap, Cleft soft palate, Micrognathia, Abnormality of ... |
OMIM:618529 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Pes planus, Short femur, Dental crowding, Ta... |
OMIM:300990 |
Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Cerebellar vermis hypoplasia, Downturned corners of mouth, Wide mouth, ... |
OMIM:618067 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Postaxial polydactyly, Aplastic clavicle, Micromelia, Preaxial polydactyly, Short ribs, Narrow chest |
OMIM:616546 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Abnormal rib morphology, Bifid femur, Incre... |
ORPHA:2769 |
Desmosterolosis |
|
Micromelia, Micrognathia, Pachygyria, Agenesis of corpus callosum, Bifid uvula, Increased bone mi... |
ORPHA:35107 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes, ... |
OMIM:269920 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Short metacarpal, Short fourth metatarsal, Overlapping toe, Tented upper lip vermilio... |
OMIM:616723 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Abnormal dental enamel morphology, Supernumerary tooth, Hepatic failure, Enamel hypoplasia |
ORPHA:3196 |
Hallermann-Streiff Syndrome |
|
Recurrent fractures, Tracheomalacia, Micrognathia, Small hand, Reduced bone mineral density, Shor... |
ORPHA:2108 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
11 pairs of ribs, Narrow chest, Rhizomelia, Talipes |
OMIM:617661 |
Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Bilateral single transverse palmar creases, Micromelia, Lissencephaly, Secondar... |
ORPHA:50810 |
Campomelia, Cumming Type |
|
Death in infancy, Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Abnormal t... |
ORPHA:1318 |
Gardner Syndrome |
|
Neoplasm of the pancreas, Duodenal polyposis, Ampulla of Vater carcinoma, Abnormality of the dent... |
ORPHA:79665 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Ab... |
ORPHA:3472 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy, Dysphagia |
OMIM:160900 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Mild postnatal growth retardation, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Hyp... |
OMIM:235510 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Pericardial eff... |
OMIM:619313 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Mandibular prognathia, Relative macrocephaly, Rhizomelia, Mesomelia, Broad thumb, Brachydactyly |
ORPHA:171866 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Short stature, Frontal open bite, Micrognathia, Postnatal growth retardation, Short t... |
OMIM:225410 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglottis, Cone-shaped epiphys... |
OMIM:617088 |
Dpm1-Cdg |
|
Failure to thrive, Tented upper lip vermilion, Sandal gap, Micrognathia, High, narrow palate, Cer... |
ORPHA:79322 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Talipes, Missing ribs, Aplasia/Hypoplasia of the d... |
ORPHA:1647 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
Braddock Syndrome |
|
Pectus excavatum, Preaxial hand polydactyly, Missing ribs, Micrognathia |
ORPHA:52047 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Enlargement of the ankles, Short stature, Osteomalacia, Irregular, rac... |
ORPHA:289157 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Barrel-shaped chest, Recurrent fractur... |
OMIM:610915 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Short stature, Reduced cerebral white matter volume, Microcephaly, Thick lower lip vermilion, Fla... |
OMIM:610442 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Ventricular septal defect, Dental crowding, Microdontia, Splenomegaly, Downturned c... |
OMIM:618268 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Long clavicles, Increased density of long bones, Wide distal femoral metaphysis, Postaxial hand p... |
OMIM:269150 |
22Q11.2 Deletion Syndrome |
|
Micrognathia, Anorectal anomaly, Gastroesophageal reflux, Abnormality of the uterus, Hypocalcemia... |
ORPHA:567 |
Gm1-Gangliosidosis, Type Ii |
|
Coxa valga, Protruding tongue, Gingival overgrowth, Cerebral atrophy, Hypoplastic vertebral bodie... |
OMIM:230600 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Hand oligodactyly, Aplasia of the ulna |
OMIM:276822 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb |
OMIM:602200 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
8Q24.3 Microdeletion Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Micromelia, Cleft maxillary alveolar... |
ORPHA:508488 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Short stature, Bowi... |
OMIM:300554 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Death in early adulthood, Hypoplastic scapulae, Femoral retroversion, Micromelia |
ORPHA:79107 |
Thanatophoric Dysplasia |
|
Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Short thorax, Joint hyperflexi... |
ORPHA:2655 |
Acrofrontofacionasal Dysostosis |
|
Short stature, Camptodactyly of finger, Micromelia, Non-midline cleft lip, Cleft palate, High pal... |
ORPHA:1784 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Microcephaly, Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of ... |
ORPHA:85165 |
Satoyoshi Syndrome |
|
Abnormality of the knee, Short stature, Tapered finger, Abnormality of the humerus, Microcephaly,... |
ORPHA:3130 |
Spondyloepiphyseal Dysplasia Tarda |
|
Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e... |
ORPHA:93284 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Joint hypermobility, Joint stiffness, Short long bone, Short palm, Tracheobronc... |
OMIM:619184 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Hypoplastic vertebral bodies, Downturned corners of mouth, Short philtrum, Premature ... |
ORPHA:3455 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Cerebellar vermis hypoplasia, Severe short stature, Micromelia, Microcephaly, S... |
OMIM:600092 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Increased bone mineral density, Arachnodactyly, Short stature, Wide distal fem... |
OMIM:614856 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
11 pairs of ribs, Hyperextensibility of the finger joints, Micrognathia |
OMIM:618356 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619662 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Elevated hepatic transaminase, Left atrial enlargement, Elevated circula... |
OMIM:300280 |
Liang-Wang Syndrome |
|
Thin upper lip vermilion, Diastema, Gingival overgrowth, Cerebral atrophy, Downturned corners of ... |
OMIM:618729 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Preaxial polydactyly, Radial deviation of the 3rd finger, Conical inciso... |
OMIM:149730 |
Caudal Regression Syndrome |
|
Missing ribs, Joint stiffness, Abnormal iliac wing morphology, Aplasia/Hypoplasia of the sacrum, ... |
ORPHA:3027 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Intrah... |
OMIM:613812 |
Nance-Horan Syndrome |
|
Mandibular prognathia, Retinal detachment, Supernumerary tooth, Abnormality of the dentition |
ORPHA:627 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Ventricular septal defect, Hypospadias, Exagge... |
ORPHA:464738 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ... |
OMIM:259420 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Optic disc pallor, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice... |
OMIM:615512 |
Cimdag Syndrome |
|
Hepatomegaly, Retinal dystrophy, Microvesicular hepatic steatosis, Hypogonadism, Cholelithiasis |
OMIM:619273 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Microcephaly, Aplasia... |
ORPHA:364577 |
Occipital Horn Syndrome |
|
Osteopenia, Cerebral calcification, High, narrow palate, Coxa vara, Humerus varus, Short palm, La... |
ORPHA:198 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Missing ribs, Micrognathia, Abnormal rib morphology, Aplasia/Hypop... |
ORPHA:3301 |
Hennekam Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Malabsorp... |
ORPHA:2136 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Death in infancy, Crumpled long bones, Multiple rib fractures, Rhizomelia, Protrusio ... |
OMIM:610682 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla... |
ORPHA:2198 |
Seckel Syndrome 5 |
|
11 pairs of ribs, Pes planus, Micrognathia, Short middle phalanx of finger, Clinodactyly of the 5... |
OMIM:613823 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Block vertebrae, Missing ribs, Pectus excavatum, Short thorax, Rib fusion, Bell... |
OMIM:613686 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Dental crowding, Micrognathia, Tibial bowing, High palate, Short philtrum, Microdonti... |
ORPHA:251028 |
Shprintzen-Goldberg Syndrome |
|
Osteopenia, Pes planus, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, Cranio... |
ORPHA:2462 |
Radio-Renal Syndrome |
|
Severe short stature, Micromelia, Micrognathia, High, narrow palate, Hypoplasia of the radius, Ab... |
ORPHA:3015 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Recurrent tonsillitis, Hyperkalemia, Increased circulating renin level, Cholelithiasis |
ORPHA:171876 |
Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, In... |
ORPHA:158048 |
Raine Syndrome |
|
Mandibular prognathia, Cerebral calcification, Micromelia, Micrognathia, High palate, Neonatal de... |
OMIM:259775 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Barrel-shaped chest, Limitation of joint mobility, Coxa vara, Hypoplasia of the capital femoral e... |
OMIM:313400 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Micrognathia, G... |
ORPHA:2980 |
Grfoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Neoplasm of the pancreas, Hype... |
ORPHA:97261 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Ivic Syndrome |
|
Severe short stature, Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of th... |
ORPHA:2307 |
Lathosterolosis |
|
Elevated hepatic transaminase, Thick upper lip vermilion, Bilobate gallbladder, Increased mean pl... |
OMIM:607330 |
Orofaciodigital Syndrome I |
|
Microretrognathia, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Pancreatic cysts, Cari... |
OMIM:311200 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Clinodactyly of the 5th finger, Talipes equinovarus, Neonatal death, Missing ribs |
OMIM:619859 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Cranioectodermal Dysplasia 2 |
|
Joint laxity, Syndactyly, Rhizomelia, Craniosynostosis, Micrognathia, Pectus excavatum, Postaxial... |
OMIM:613610 |
Mirizzi Syndrome |
|
Elevated hepatic transaminase, Pancreatitis, Jaundice, Cholesterol gallstones, Hyperbilirubinemia... |
ORPHA:521219 |
Meckel Syndrome, Type 6 |
|
Abnormal internal genitalia, Absent gallbladder, Cleft upper lip, Cleft palate, Cystic liver dise... |
OMIM:612284 |
Czech Dysplasia |
|
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac... |
OMIM:609162 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia |
ORPHA:3145 |
Ppoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Neoplasm of the pancreas, Hype... |
ORPHA:97278 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Missing ribs, Micrognathia |
OMIM:220210 |
Hydrolethalus Syndrome 1 |
|
Median cleft lip, Absent septum pellucidum, Abnormal cortical gyration, Micrognathia, Preaxial ha... |
OMIM:236680 |
Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Carious teeth, Supernumerary tooth, Adenomatous colonic polyposis, Multiple g... |
OMIM:175100 |
Thanatophoric Dysplasia Type 2 |
|
Micromelia, Limitation of joint mobility, Short thorax, Joint hyperflexibility, Narrow chest, Abn... |
ORPHA:93274 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Peptic ulcer, Splenomegaly, Increased mean corpuscular hemoglobin concentra... |
ORPHA:90041 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Micromelia, Microcephaly, Disproportionate short stature, Coxa vara, Narrow pelvis bone, Tooth ag... |
ORPHA:2637 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Sclero... |
OMIM:617394 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormal heart valve... |
ORPHA:77293 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Disproportionate short sta... |
ORPHA:93317 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Micrognathia, F... |
OMIM:617952 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Narrow greater sciatic notch, Short phalanx of finger, Broa... |
ORPHA:508533 |
Fanconi Anemia, Complementation Group F |
|
Short stature, Microcephaly, Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger synd... |
OMIM:603467 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hyperextensibility of the finger joints, Thin upper lip vermilion, Metatarsus adductus, Short toe... |
ORPHA:3041 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of the knee, Micrognathia, Crowded maxillary incisors, Lower limb asymmetry, Abnormal... |
ORPHA:2063 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... |
OMIM:212140 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Pes planus, Dental crowding, Abnormality of the hand, Micrognathia, Unilateral radial aplasia, Ta... |
ORPHA:476126 |
Orofaciodigital Syndrome Type 4 |
|
Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th... |
ORPHA:2753 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corner... |
ORPHA:1507 |
Neu-Laxova Syndrome |
|
Osteopenia, Cerebral calcification, Micromelia, Micrognathia, Pachygyria, Bifid uvula, Dandy-Walk... |
ORPHA:2671 |
Bohring-Opitz Syndrome |
|
Retinal atrophy, Cardiomegaly, Micrognathia, Cleft lip, Optic atrophy, Cleft palate, Abnormal car... |
ORPHA:97297 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:42 |
Triploidy |
|
Hepatomegaly, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Micrognathia, Cryptorchid... |
ORPHA:3376 |
Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Osteopathia striata, Short metatarsal, Foot oligodactyly, Spina bifid... |
OMIM:305600 |
Porphyria, Congenital Erythropoietic |
|
Hepatomegaly, Hemolytic anemia, Erythrodontia, Splenomegaly, Jaundice, Increased fecal coproporph... |
OMIM:263700 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Abnormal biliary tract morphology, Intestinal malrotation, Abnormal ... |
ORPHA:3032 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Patellar hypoplasia, High palate, Microdontia, Short phalanx of finger, Genu varum, S... |
ORPHA:221016 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Micromelia, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Abnormal pelvis ... |
ORPHA:93271 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Persistence of primary teeth, Supernumerary tooth, High palate, Neutropenia, Lymphopenia, Reduced... |
OMIM:619752 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Micrognathia, Gastroesophageal reflux, Atrial septal defect, Advanced erupti... |
ORPHA:818 |
Endocrine-Cerebroosteodysplasia |
|
Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, A... |
OMIM:612651 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Osteopenia, Severe short stature,... |
OMIM:231070 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Precocious puberty, Cleft lip, Cleft palate, Hepatosplenomegaly, Thick vermilion bo... |
OMIM:301066 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Missing ribs, Rib fusion, Thin ribs, Short ribs |
OMIM:271520 |
Gm1 Gangliosidosis |
|
Mandibular prognathia, Short stature, Camptodactyly of finger, Gingival overgrowth, Weight loss, ... |
ORPHA:354 |
3C Syndrome |
|
Finger syndactyly, Death in infancy, Missing ribs, Micrognathia, Hand polydactyly, Abnormal hip b... |
ORPHA:7 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Card... |
OMIM:201475 |
Elsahy-Waters Syndrome |
|
Bifid scrotum, Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Anteri... |
OMIM:211380 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Duodenal polyposis, Supernumerary tooth, Adenomatous colonic polyposis,... |
ORPHA:247806 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Pectus carinatum, Narrow chest, Abnormal... |
ORPHA:175 |
Osteogenesis Imperfecta, Type Xvii |
|
Bowed humerus, Thin long bone diaphyses, Short stature, Hip dislocation, Osteoporosis, Reduced bo... |
OMIM:616507 |
Peters-Plus Syndrome |
|
Short lingual frenulum, Single transverse palmar crease, Limited elbow movement, Micrognathia, Pr... |
OMIM:261540 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Patellar hypoplasia, Microdontia, Short phalanx of finger, Genu varum, Short metacarp... |
ORPHA:221008 |
Kagami-Ogata Syndrome |
|
Long clavicles, Coxa valga, Micrognathia, Long fingers, Flexion contracture, Thin ribs, Bell-shap... |
OMIM:608149 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jau... |
ORPHA:1414 |
Weyers Acrofacial Dysostosis |
|
Conical tooth, Postaxial hand polydactyly, Postaxial foot polydactyly, Solitary median maxillary ... |
OMIM:193530 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyper... |
OMIM:619170 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Elbow contracture, Pectus excavatum, 2-3 toe syndactyly, Knee flexion contracture, Ir... |
OMIM:618162 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Missing ribs, Micrognathia, Abnormal rib morphology, Abnormal pelvic gir... |
ORPHA:1834 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal... |
ORPHA:465508 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... |
ORPHA:209902 |
Metachromatic Leukodystrophy |
|
Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallbladder morphology, Hemobi... |
ORPHA:512 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, M... |
ORPHA:1452 |
Trisomy 8P |
|
Abnormal atrioventricular connection, Cryptorchidism, Malrotation of small bowel, Abnormal left v... |
ORPHA:264450 |
Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Micromelia, Micrognathia, Proximal placement of thumb, High, nar... |
OMIM:122470 |
Pierson Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Macular hypoplas... |
OMIM:609049 |
Dent Disease 1 |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Short stature, Bowi... |
OMIM:300009 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Micrognathia, Generalized joint laxity, Thoracic kyphosis, Hypermobility of i... |
ORPHA:508498 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Thin upper lip vermilion, Hypospadias, Ventricular septal defect, Micrognathi... |
OMIM:300712 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Thin upper lip vermilion, Enamel hypoplasia, Cardiomegaly |
OMIM:613576 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, S... |
ORPHA:289176 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e... |
OMIM:618022 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Supernumerary tooth, Yel... |
ORPHA:69087 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde... |
OMIM:617412 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Cle... |
ORPHA:2167 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, O... |
OMIM:607626 |
Acrofacial Dysostosis, Palagonia Type |
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Micrognathia, High, narrow palate, Supernumerary tooth, Oligodontia, Unilateral cleft lip, Malar ... |
ORPHA:1787 |
Hydrolethalus |
|
Absent septum pellucidum, Micromelia, Micrognathia, Postaxial hand polydactyly, Submucous cleft h... |
ORPHA:2189 |
Fibrous Dysplasia Of Bone |
|
Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Patchy reduction of bone mineral... |
ORPHA:249 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Portal hypertension, Malformation of t... |
OMIM:208540 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Microcephaly, Macrocephaly, Hypoplasia of the brainstem, Short 5th finger, Cerebellar hypoplasia,... |
ORPHA:500159 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, C... |
ORPHA:2636 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Abnormal metaphysis morphology, Long fibula, Biparietal narrowing, Reduced bone mineral density |
ORPHA:935 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Severe short stature, Rhizomelia, Megalencephaly, Disproportionate short stature, Tibial bowing, ... |
OMIM:616482 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Hyperprolinemia, Hyperalaninemia |
OMIM:619064 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Mitral valve calcification, Pancytopenia, Splenomegaly, Aortic valve calcification, ... |
ORPHA:2072 |
2Q31.1 Microdeletion Syndrome |
|
Micrognathia, Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, Short palm, ... |
ORPHA:251014 |
Congenital Myopathy 8 |
|
High palate, Cardiomegaly |
OMIM:618654 |
Familial Atrial Myxoma |
|
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Bacterial endocarditis |
ORPHA:615 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Absent radius, Cleft palate, Cleft upper lip |
OMIM:179400 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Small hand, Abnormal rib morphology, Short foot, Spina bifida occulta, Thickened cort... |
ORPHA:488434 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Thin upper lip vermilion, Dental crowding, Failure to t... |
ORPHA:261323 |
Neuraminidase Deficiency |
|
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom... |
OMIM:256550 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:255120 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Double outlet left ventricle, Ventricular septal defect, Intestinal malrotation, Patent foramen o... |
ORPHA:2255 |
Tarp Syndrome |
|
Finger syndactyly, Failure to thrive, Single transverse palmar crease, Rocker bottom foot, Microg... |
ORPHA:2886 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Atrial septal defect, Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular sept... |
OMIM:600001 |
Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Micrognathia, Cryptorchidism, Hypoplastic left atrium, Multilobulated ... |
OMIM:601186 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... |
OMIM:180700 |
Trichorhinophalangeal Syndrome Type 2 |
|
Thin upper lip vermilion, Abnormality of the dentition, Supernumerary tooth, Deep philtrum, Aplas... |
ORPHA:502 |
Camurati-Engelmann Disease |
|
Delayed eruption of teeth, Abnormal morphology of the radius, Metaphyseal dysplasia, Pes planus, ... |
ORPHA:1328 |
Hereditary Hemorrhagic Telangiectasia |
|
Intestinal polyposis, Gastrointestinal hemorrhage, Portal hypertension, Retinal telangiectasia, M... |
ORPHA:774 |
Glutamine Deficiency, Congenital |
|
Neonatal death, Flexion contracture, Micromelia, Camptodactyly |
OMIM:610015 |
Schwartz-Jampel Syndrome |
|
Micromelia, Micrognathia, Coxa vara, High palate, Decreased body weight, Wrist flexion contractur... |
ORPHA:800 |
Distal Deletion 12Q |
|
Median cleft lip, Unilateral cryptorchidism, Micrognathia, High, narrow palate, Esophageal atresi... |
ORPHA:96149 |
Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Functional abnormalit... |
ORPHA:29073 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, C... |
ORPHA:904 |
Arthrogryposis Multiplex Congenita 5 |
|
11 pairs of ribs, Death in infancy, Rocker bottom foot, Micrognathia, Flexion contracture, Hip di... |
OMIM:618947 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Cerebral white matter atrophy, Broad hallux, Ove... |
ORPHA:435638 |
Acrofacial Dysostosis, Cincinnati Type |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Microcephaly, Cleft palate, Femoral bowin... |
OMIM:616462 |
Mirage Syndrome |
|
Hyponatremia, Hypospadias, Hypergonadotropic hypogonadism, Cryptorchidism, Esophageal stricture, ... |
OMIM:617053 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Trisomy 10P |
|
Absent gallbladder, Micrognathia, Orofacial cleft, Abnormal heart morphology, Abnormal lip morpho... |
ORPHA:171929 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Short stature,... |
OMIM:614800 |
Leukocyte Adhesion Deficiency Type Ii |
|
Mandibular prognathia, Failure to thrive, Severe periodontitis, Overlapping toe, Small for gestat... |
ORPHA:99843 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... |
OMIM:301068 |
Rubinstein-Taybi Syndrome 1 |
|
Plantar crease between first and second toes, Dental crowding, Single transverse palmar crease, M... |
OMIM:180849 |
Acromelic Frontonasal Dysplasia |
|
Median cleft lip, Patellar hypoplasia, Hypoplasia of the olfactory bulb, Wide mouth, Agenesis of ... |
ORPHA:1827 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Thin upper lip vermilion, Dental crowding, Supernumerary tooth, Long philtrum, Smooth philtrum |
OMIM:190351 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Selective tooth agenesis, Micrognathia, High, narrow palate, Cryptorchidism, Optic d... |
OMIM:234100 |
Chime Syndrome |
|
Ventricular septal defect, Abnormal dental morphology, Abnormality of the dentition, Supernumerar... |
ORPHA:3474 |
Developmental And Epileptic Encephalopathy 89 |
|
Microretrognathia, Thin upper lip vermilion, Cleft palate, Macrocephaly, Cerebral atrophy, Talipe... |
OMIM:619124 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Micrognathia, Elevated circulating creatinine concentration, Agon... |
OMIM:154230 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Micrognathia, Cryptorchidism, Male pseudohermaphroditism, Abnormal mesentery morphol... |
ORPHA:2075 |
Microphthalmia, Syndromic 2 |
|
Oligodontia, Fused teeth, Atrial septal defect, Bifid uvula, Hypospadias, Septate vagina, Persist... |
OMIM:300166 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Thin upper lip vermilion, Hypospadias, Ventricular septal defect, Cryptorchid... |
ORPHA:163979 |
Acrofacial Dysostosis, Weyers Type |
|
Conical tooth, Abnormality of the dentition, Postaxial hand polydactyly, Small hand, Advanced eru... |
ORPHA:952 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Supernumerary tooth, Tooth agenesis, Adeno... |
ORPHA:3353 |
Tetrasomy 9P |
|
Dental crowding, Micrognathia, Biliary atresia, Downturned corners of mouth, High palate, Short p... |
ORPHA:3310 |
Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft palate, Bilateral cleft lip, Cryptorchidism, Palate ... |
OMIM:616788 |
Diamond-Blackfan Anemia 1 |
|
11 pairs of ribs, Failure to thrive, Short stature, Micrognathia, Absent thumb, Short thumb, Hypo... |
OMIM:105650 |
Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Short stature, Limited elbow movement, Limited wrist movement, Short foot, ... |
OMIM:617809 |
Ring Chromosome 13 Syndrome |
|
Bifid scrotum, Hypoplasia of the gallbladder, Hypospadias, Abnormal retinal morphology, Micrognat... |
ORPHA:96176 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Metaphyseal dysplasia, Cerebral calcification, Short stature, Bowing o... |
ORPHA:1855 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Downturned corners of mouth, A... |
OMIM:618652 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Reduced C-peptide level, Hypoamylasemia, High palate, Hypoplasia of the zygom... |
ORPHA:556955 |
Ctcf-Related Neurodevelopmental Disorder |
|
Osteopenia, Single transverse palmar crease, Short philtrum, Joint contracture of the 5th finger,... |
ORPHA:363611 |
Mosaic Trisomy 16 |
|
Syndactyly, Small for gestational age, Single transverse palmar crease, Short thumb, Wide mouth, ... |
ORPHA:1708 |
Digeorge Syndrome |
|
Micrognathia, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, High palat... |
OMIM:188400 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hyposp... |
OMIM:618280 |
Tbck-Related Intellectual Disability Syndrome |
|
11 pairs of ribs, Broad toe, Mandibular prognathia, Tented upper lip vermilion, Microcephaly, Hig... |
ORPHA:488632 |
Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Restrictive cardiomyopathy, Cardiomegaly, Hypertro... |
ORPHA:85451 |
Robinow Syndrome |
|
Dental crowding, Micrognathia, Orofacial cleft, Syndactyly, Short stature, Persistence of primary... |
ORPHA:97360 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypospadias, Diastema, Cryptorchidism, Supernumerary tooth, Agenes... |
OMIM:619718 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Bowing of the long bones, Short stature, Camptodactyly of finger, Micromelia, Abnorma... |
ORPHA:3206 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Cryptorchidism, Supernumerary too... |
OMIM:268400 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Short stature, Micrognathia, Cleft lip, Dental malocclusion, Gingival overgrowth, Cle... |
OMIM:616894 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Coxa vara, Tibial bowing, Reduced bone mineral density, High palate, Abnormal bone ossification, ... |
ORPHA:93315 |
Charge Syndrome |
|
Hypoplasia of the ulna, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Micrognathia, Ab... |
OMIM:214800 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating crea... |
OMIM:614921 |
Duplication Of The Pituitary Gland |
|
Supernumerary tooth, Abnormal pituitary gland morphology, Abnormality of the tongue, Cleft palate... |
ORPHA:314621 |
Leptospirosis |
|
Papilledema, Hepatomegaly, Pericarditis, Jaundice, Retinal hemorrhage, Hepatitis, Lymphadenopathy... |
ORPHA:509 |
Trichorhinophalangeal Syndrome Type 1 |
|
Abnormality of the dentition, Micrognathia, Supernumerary tooth, High palate, Long philtrum, Long... |
ORPHA:77258 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Brachydactyly, Failure to thrive, Micrognathia, Hypoplasia of the maxi... |
OMIM:601812 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Optic atrophy, Hyperammonemia, Hyperalaninemia, Hypertrophic ... |
OMIM:614702 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Micrognathia, Biliary hyperplasia, Pyloric stenosis, Cryp... |
ORPHA:83617 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Ventricular septal defect, Retinitis, Hamartoma of tongue, Microg... |
OMIM:615948 |
Slc39A8-Cdg |
|
Osteopenia, Failure to thrive in infancy, Short stature, Craniosynostosis, Elbow flexion contract... |
ORPHA:468699 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Short stature, Microcephaly, Tooth malposition, Simplified gyral pattern, Truncal obesity, Dispro... |
OMIM:616541 |
Hsd10 Disease, Infantile Type |
|
Cardiomegaly, Gastrointestinal dysmotility, Optic atrophy, Hyperammonemia, Dysphagia, Hypertrophi... |
ORPHA:391428 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Gastroesophageal refl... |
ORPHA:268261 |
Cat Eye Syndrome |
|
Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fistula, Micrognathia, R... |
OMIM:115470 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... |
ORPHA:400 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... |
ORPHA:480520 |
Autosomal Dominant Robinow Syndrome |
|
Hypoplasia of penis, Micrognathia, High, narrow palate, Epispadias, Abnormality of the gingiva, D... |
ORPHA:3107 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Ventricular septal defect, Elevat... |
OMIM:619525 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Increased c... |
ORPHA:57777 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bile duct polyp, Rectal prolapse, Biliary tract abnormality, Multiple g... |
OMIM:175200 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne... |
ORPHA:699 |
Radial-Renal Syndrome |
|
Absent radius, Short stature, Absent thumb |
OMIM:179280 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Pseudobulbar paralysis, Cholelithiasis, Abnormal circulating cholesterol conce... |
OMIM:213700 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif... |
OMIM:613027 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mandibular prognathia, Cardiomegaly, Protruding tongue, Abnormal atrioventricular valve morpholog... |
ORPHA:324410 |
Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Hypocalcemia, Micropenis, Ankyloglossia |
OMIM:602361 |
Doors Syndrome |
|
Short lingual frenulum, Abnormal finger morphology, Downturned corners of mouth, Widely spaced te... |
ORPHA:79500 |
Wiedemann-Steiner Syndrome |
|
Aplasia/Hypoplasia of the ribs, Hyperextensibility at elbow, Rhizomelia, Tapered finger, Pectus e... |
ORPHA:319182 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Short palm, Broad toe, Postaxial polydactyly, Pectus excavatum, Postaxial hand polydactyly, 2-3 f... |
OMIM:312870 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
Holoprosencephaly 9 |
|
Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Anterior pituitary... |
OMIM:610829 |
Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Absent radius, Preaxial hand polydactyly, Microcep... |
ORPHA:233 |
Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Failure to thrive, Short distal phalanx of finger |
OMIM:118450 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly, Vitreous floaters |
ORPHA:85447 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Micromelia, Micrognathia, Abnormal tibia morphology, Abn... |
ORPHA:666 |
Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula |
OMIM:258850 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Supernumerary tooth, Thin vermilion border, Elliptocytosis, Abnormal aortic valve morphology, Thi... |
ORPHA:86818 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Natal tooth, Bicuspid aortic valve, Intestinal malrotation, Ventricular septal defect, Hypospadia... |
ORPHA:353281 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Extramedullary hematopoiesis, ... |
ORPHA:79303 |
Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Endometrial carcinoma, Tented upper lip vermilion, Intestinal pseu... |
ORPHA:273 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Spondylocarpotarsal Synostosis Syndrome |
|
Carpal synostosis, Epiphyseal dysplasia, Scapular winging, Short metacarpal, Bowed humerus, Tarsa... |
OMIM:272460 |
Vacterl/Vater Association |
|
Bifid scrotum, Hypoplasia of penis, Hypospadias, Cryptorchidism, Abnormality of the pancreas, Ano... |
ORPHA:887 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Failure to thrive, Proportionate short stature, Micrognathia, Microcephaly, Narrow mouth, Thin co... |
OMIM:613457 |
Arboleda-Tham Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, Short philtrum, Genu varum, Microretrognathia... |
OMIM:616268 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Thrombocytopen... |
OMIM:185070 |
Oncogenic Osteomalacia |
|
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,... |
ORPHA:352540 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Vanishing testis, El... |
OMIM:273250 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors |
OMIM:610706 |
Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Optic neuropathy, Abnormal retinal vascular morphology, Optic atrophy, Hypermy... |
ORPHA:909 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:608836 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Septate vagina, Uterus didelphys, Cleft palate, Abnormal heart morphology, Pa... |
ORPHA:2237 |
Mogs-Cdg |
|
Hepatomegaly, External genital hypoplasia, Cardiomegaly, Optic atrophy, Retrognathia, Hepatosplen... |
ORPHA:79330 |
Refsum Disease, Classic |
|
Cardiomegaly, Elevated circulating phytanic acid concentration, Cardiomyopathy, Rod-cone dystroph... |
OMIM:266500 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
Zttk Syndrome |
|
Absent gallbladder, Ventricular septal defect, Abnormality of the dentition, Hypoplasia of the ma... |
OMIM:617140 |
Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Bone spicule pigmentation of the retina, Aganglionic megacolon, Retina... |
OMIM:209900 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Hypoplasia of the radius, Ectrodactyly, Oligodactyly |
ORPHA:3016 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Hypergonadotropic hypogonadism, Decreased response to gr... |
OMIM:602782 |
Neu-Laxova Syndrome 1 |
|
Micromelia, Micrognathia, Swollen lip, Calcaneovalgus deformity, Neonatal death, Agenesis of corp... |
OMIM:256520 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Cardiomegaly, Hypoalbuminemia, Hepatic fibrosis, Hypocho... |
ORPHA:14 |
Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Small hand, Rib fusion, Hip dysplasia, Supernumerary ribs, Bifid ribs |
ORPHA:50 |
Mosaic Trisomy 9 |
|
Rocker bottom foot, Micromelia, Micrognathia, Elbow dislocation, Camptodactyly of finger, Microce... |
ORPHA:99776 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... |
OMIM:612965 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Micrognathia, High palate, Syndactyly, Broad hallux, Short stature, Supernumerar... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Micrognathia, High palate, Syndactyly, Broad hallux, Short stature, Supernumerar... |
ORPHA:353277 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Apert Syndrome |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye... |
ORPHA:87 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Everted upper lip vermilion, Cardiomegaly, Micrognathia, Splenomegaly, Thrombocytop... |
OMIM:608013 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Thin upper lip vermilion, Tented upper lip vermilion, Microcephaly, Abnormality of primary teeth,... |
ORPHA:438216 |
Fg Syndrome Type 1 |
|
Hypospadias, Optic nerve hypoplasia, Abnormal large intestine morphology, Dental crowding, Malrot... |
ORPHA:93932 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, Congenit... |
OMIM:618886 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Micrognathia, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Prote... |
ORPHA:731 |
Pallister-Hall Syndrome |
|
Syndactyly, Natal tooth, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, ... |
OMIM:146510 |
Timothy Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Cardiomegaly, Hypocalcemia, Microdontia, Tet... |
OMIM:601005 |
Meckel Syndrome, Type 7 |
|
Portal hypertension, Situs inversus totalis, Pancreatic cysts, Biliary cirrhosis, Cholestasis, He... |
OMIM:267010 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Thick lower lip vermilion, Gingival ov... |
OMIM:239850 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy |
OMIM:619051 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Thick vermilion border, Gastroesophageal reflux, Cardiomegaly |
ORPHA:3137 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Cleft upper lip, Micrognathia, Cleft palate, Hypoplasia of the uterus, Azoospermia, Bicornuate ut... |
OMIM:601076 |
Complete Androgen Insensitivity Syndrome |
|
Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating luteinizing hormone... |
ORPHA:99429 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Delayed eruption of teeth, Epiphyseal dysplasia, Micromelia, Microcephaly, Deep philtrum, Cerebra... |
ORPHA:1675 |
C Syndrome |
|
Toe syndactyly, Failure to thrive in infancy, Talipes, Micromelia, Micrognathia, Accessory oral f... |
ORPHA:1308 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... |
ORPHA:228308 |
Tooth Agenesis, Selective, 3 |
|
Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia |
OMIM:604625 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Macrodontia of permanent maxillary central incisor, Hip dysplasia, Retrognathia, Equinovarus defo... |
ORPHA:466722 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Osteopenia, Scapular winging, Micrognathia, Dental malocclusion, Localized hypoplasia of dental e... |
ORPHA:73223 |
Bartsocas-Papas Syndrome 1 |
|
Syndactyly, Short metacarpal, Hypoplastic scapulae, Micrognathia, Absent thumb, Short thumb, Ulna... |
OMIM:263650 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart val... |
ORPHA:363705 |
Jacobsen Syndrome |
|
Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Death in infancy, Pes planus, Talipes, M... |
ORPHA:2308 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Small for gestational age, Velopharyngeal insufficiency, Non-mi... |
ORPHA:199302 |
Radial Aplasia, X-Linked |
|
Absent radius |
OMIM:312190 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Carious teeth, Conical incisor, Enamel hypoplasia |
OMIM:614564 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Cleft palate, Bile duct proliferation, He... |
OMIM:607361 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly, Micrognathia, Narrow palate, Macroglos... |
OMIM:617022 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein... |
ORPHA:90797 |
Meckel Syndrome, Type 1 |
|
External genital hypoplasia, Micrognathia, Asplenia, Ambiguous genitalia, female, Lobulated tongu... |
OMIM:249000 |
Bloom Syndrome |
|
Syndactyly, Small for gestational age, Microcephaly, Postnatal growth retardation, Agenesis of ma... |
OMIM:210900 |
Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Ventricular septal defect, Hamartoma of tongue, Accessory oral frenulum, Bilat... |
ORPHA:434179 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Micrognathia, Hypoplasia of the radius, Hip dislocation, Intrauterine grow... |
ORPHA:3412 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Craniofacial hyperostosis, Malabsorption, Cardiomegaly, Splenomegaly, Adenoiditis, ... |
ORPHA:581 |
Cornelia De Lange Syndrome |
|
Micromelia, Micrognathia, Proximal placement of thumb, Downturned corners of mouth, Widely spaced... |
ORPHA:199 |
Craniosynostosis 2 |
|
Supernumerary tooth, Cleft soft palate |
OMIM:604757 |
Pseudotrisomy 13 Syndrome |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, 11 pairs of ribs, 2-3 toe syndactyly |
OMIM:264480 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating luteinizing hormo... |
ORPHA:90793 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly |
OMIM:618838 |
Joubert Syndrome 21 |
|
Bell-shaped thorax, Short ribs |
OMIM:615636 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:617713 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Chorioretinal hyperpigmentation, Optic atrophy, Hypoalbuminemia, M... |
OMIM:618329 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... |
OMIM:232300 |
Fanconi Anemia, Complementation Group E |
|
Small for gestational age, Short stature, Microcephaly, Absent radius, Short thumb, Absent thumb,... |
OMIM:600901 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Trichothiodystrophy 2, Photosensitive |
|
Agenesis of maxillary lateral incisor |
OMIM:616390 |
Jacobsen Syndrome |
|
Missing ribs, Micrognathia, Pectus excavatum, Flexion contracture, Clinodactyly of the 5th finger... |
OMIM:147791 |
Lacrimoauriculodentodigital Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Abnormal dental enam... |
ORPHA:2363 |
Sandhoff Disease |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Macroglossia, Cherry red spot of the macula |
OMIM:268800 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border, Hypoplasi... |
OMIM:620114 |
Floating-Harbor Syndrome |
|
11 pairs of ribs, Joint laxity, Brachydactyly, Ivory epiphyses of the distal phalanges of the han... |
OMIM:136140 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Hypoplasia of the uterus, Leukopenia, Anemia, Bone marrow hypocellularity... |
OMIM:619151 |
Meckel Syndrome 14 |
|
Microretrognathia, Micrognathia, Hepatic fibrosis, Aplasia of the uterus, Ambiguous genitalia, Re... |
OMIM:619879 |
Fucosidosis |
|
Hepatomegaly, Abnormality of the dentition, Abnormality of the gallbladder, Cardiomegaly |
ORPHA:349 |
Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Clitoral hypertrophy, Overriding aorta, Ventricular septal defect, Hypospadias, Ovotestis, Cleft ... |
OMIM:309801 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Ulcerative colitis, Cholestasis, Abnorm... |
ORPHA:562639 |
Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Short fourth metatarsal, Septo-optic dysplasia, Cerebellar vermis hypoplas... |
OMIM:619841 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial... |
ORPHA:96191 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus, Micrognathia |
OMIM:266810 |
Premature Ovarian Failure 7 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Ele... |
OMIM:612964 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Mildly elevated creatine kinase, Malabsorption |
OMIM:600705 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Smooth philtrum, Elevated circulating luteinizing hormone level, Pyloric stenos... |
OMIM:618419 |
6Q Terminal Deletion Syndrome |
|
Hallux valgus, Aplasia/Hypoplasia of the ribs, Joint laxity, Micrognathia, Talipes calcaneovalgus... |
ORPHA:75857 |
Chand Syndrome |
|
Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla... |
ORPHA:1401 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Iron deficiency anemia, Cardiomegaly |
ORPHA:99931 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Pericardial effusion, Splenomegaly, Hypersplenism, Thrombocytopenia, ... |
ORPHA:77259 |
Smith-Lemli-Opitz Syndrome |
|
Diffuse cerebral atrophy, Dental crowding, Micromelia, Micrognathia, Proximal placement of thumb,... |
OMIM:270400 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Thin upper lip vermilion, Toe syndactyly, Short stature, Hypoplasia of the radius, Clinodactyly o... |
ORPHA:140952 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Exocrine pancreatic insufficiency, Elevated circulating alanine aminotransfer... |
OMIM:618500 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... |
ORPHA:308552 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Elevated circulating luteinizing hormone level, Female external genitalia in indivi... |
ORPHA:168558 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Femur fracture, Growth delay, Increased head circumference, ... |
OMIM:612301 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Elevated circulating luteinizing hormone level, Female external genitalia in indivi... |
ORPHA:289548 |
Aicardi Syndrome |
|
Block vertebrae, Proximal placement of thumb, Missing ribs, Rib fusion, Supernumerary ribs, Bifid... |
OMIM:304050 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Leopard Syndrome 1 |
|
Scapular winging, Limited elbow movement, Missing ribs, Pectus excavatum, Pectus carinatum, Spina... |
OMIM:151100 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly, High palate, Long philtrum, Open mouth |
OMIM:618798 |
Odontoonychodermal Dysplasia |
|
Plantar hyperkeratosis, Palmoplantar hyperkeratosis, Abnormality of primary teeth, Agenesis of pe... |
OMIM:257980 |
Okamoto Syndrome |
|
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Ventricular septal d... |
ORPHA:2729 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
11 pairs of ribs, Craniosynostosis, Tapered finger, Micrognathia, Small hand, Hip dysplasia |
OMIM:620005 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Atrial septal defect, Absent gallbladder, Optic nerve hypoplasia, Hypoplasia of the maxilla, Gast... |
ORPHA:500150 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Bifid uterus, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula |
ORPHA:2736 |
Vater/Vacterl Association |
|
Syndactyly, Absent radius, Short thumb, Postnatal growth retardation, Hypoplasia of the radius, P... |
OMIM:192350 |
Fanconi Anemia, Complementation Group Q |
|
Esophageal atresia, Biliary atresia, Primum atrial septal defect, Anteriorly placed anus, Bone ma... |
OMIM:615272 |
Cleidocranial Dysplasia 2 |
|
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth |
OMIM:620099 |
Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg... |
OMIM:618278 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hyp... |
OMIM:614129 |
Müllerian Aplasia And Hyperandrogenism |
|
Cleft palate, Hypoplasia of the uterus, Short philtrum, Abnormal vagina morphology, Abnormality o... |
ORPHA:247768 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Abnormality of the dentition, Non-obstructive... |
ORPHA:432 |
Meckel Syndrome, Type 4 |
|
Atrial septal defect, Bile duct proliferation, Ventricular septal defect, Cleft palate |
OMIM:611134 |
Fucosidosis |
|
Hepatomegaly, Absent/hypoplastic paranasal sinuses, Cardiomegaly, Splenomegaly, Vacuolated lympho... |
OMIM:230000 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Micrognathia, Splenomegaly, Cholestasis, High palate... |
OMIM:261515 |
Primary Biliary Cholangitis |
|
Portal hypertension, Celiac disease, Conjugated hyperbilirubinemia, Jaundice, Hepatic failure, Bi... |
ORPHA:186 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... |
OMIM:618117 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ectopic anus,... |
ORPHA:83628 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly, Cryptorchidism, Deep philtrum, Gingival overgrowth, Macroglossia, Wid... |
OMIM:618143 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs |
ORPHA:77298 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Toe syndactyly, Arachnodactyly, Small for gestational age, Short stature, Microcep... |
ORPHA:464306 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Atrial septal defect, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, D... |
OMIM:300967 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
OMIM:614841 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Missing ribs, Rib fusion, Supernumerary ribs, Vertebral hypoplasia |
OMIM:206900 |
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Conical tooth, Micrognathia, Supernumerary tooth, Widely spaced teeth, Hypodontia, Microdontia |
ORPHA:90024 |
Perrault Syndrome 4 |
|
Increased circulating gonadotropin level, Cleft palate, Hypoplasia of the uterus, Bicornuate uter... |
OMIM:615300 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, Finger syndactyly, Micrognathia, 2-3 toe syndactyly, Talipes equinovarus, Clino... |
OMIM:620025 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Increased hepatic glycogen content, Optic atrophy, Cardiomegaly |
OMIM:619259 |
Fanconi Anemia, Complementation Group L |
|
Micrognathia, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Anemia, Bone marrow hy... |
OMIM:614083 |
Joubert Syndrome 6 |
|
Bile duct proliferation, Retinal degeneration, Hepatic fibrosis, Chorioretinal coloboma |
OMIM:610688 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... |
OMIM:617690 |
Pontocerebellar Hypoplasia Type 7 |
|
Micrognathia, Abnormal scrotal rugation, Cryptorchidism, Fatigable weakness of skeletal muscles, ... |
ORPHA:284339 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Ventricular septal defect, Intestinal malrotation, Jejunoileal ulcer... |
ORPHA:436252 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly, Abnormal thymus morphology, High palate, Narrow mouth, Malar flattening, Broad phil... |
ORPHA:2463 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Hypoplasia of t... |
OMIM:615866 |
Ogden Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato... |
OMIM:300855 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... |
OMIM:614837 |
Meckel Syndrome, Type 2 |
|
Bile duct proliferation, Intestinal malrotation, Cleft palate |
OMIM:603194 |
Oeis Complex |
|
Intestinal malrotation, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Ve... |
OMIM:258040 |
Beckwith-Wiedemann Syndrome |
|
Mandibular prognathia, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Cardio... |
ORPHA:116 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Septate vagina, Uterus didelphys, Aplasia of the vagina, Pseudopapilledema, A... |
OMIM:146255 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Ventricular septal defect, Hypospadias, Cleft upper lip, Precocious puberty, Cr... |
OMIM:194190 |
Floating-Harbor Syndrome |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Avascular necrosis of the capital femoral epip... |
ORPHA:2044 |
Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ... |
OMIM:612310 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Congenital hip dislocation, Small for gestational age, Coxa valga, Achilles tendon contracture, C... |
ORPHA:404454 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... |
OMIM:619665 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Conical primary incisor |
OMIM:602400 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
Hydatidiform Mole |
|
Enlarged uterus, Anemia |
ORPHA:99927 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Pancytopenia, Small scrotum, Intestinal malrotation, Portal hypert... |
OMIM:613658 |
Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level |
OMIM:617442 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Micrognathia, Splenomegaly, Ging... |
OMIM:252500 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... |
OMIM:619203 |
Metachromatic Leukodystrophy, Adult Form |
|
Optic atrophy, Cholecystitis, Neoplasm of the gallbladder |
ORPHA:309271 |
Meckel Syndrome, Type 5 |
|
Bile duct proliferation, Cleft palate, Cleft upper lip |
OMIM:611561 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Bar... |
ORPHA:90291 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cleft upper lip, Cryptorchidism, Lower li... |
OMIM:119500 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Secundum atrial septal defect, Conjugated hyperbilirubinemia, Prim... |
OMIM:619534 |
1P36 Deletion Syndrome |
|
11 pairs of ribs, Camptodactyly of finger, Joint stiffness, Lower limb asymmetry, Rib fusion, Sho... |
ORPHA:1606 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... |
ORPHA:365 |
Peters Plus Syndrome |
|
Micromelia, Micrognathia, Widely spaced teeth, Clinodactyly of the 5th finger, Rhizomelia, Exagge... |
ORPHA:709 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... |
OMIM:158330 |
Danon Disease |
|
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... |
OMIM:300257 |
Chromosome 17Q12 Deletion Syndrome |
|
Elevated hepatic transaminase, Mandibular prognathia, Micrognathia, Cryptorchidism, Ovarian cyst,... |
OMIM:614527 |
Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Vaginal atresia, Bifid uvula, Micrognathia |
OMIM:616258 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Papilledema, Delayed eruption of teeth, Dental crowding, Hypoplasia of the... |
OMIM:614188 |
Limb-Mammary Syndrome |
|
Absent nipple, Cleft hard palate, Cleft lip, Cleft palate, Bilateral breast hypoplasia, Breast ap... |
ORPHA:69085 |
Acrocephalopolydactylous Dysplasia |
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Craniosynostosis, Postaxial hand polydactyly, Micromelia |
OMIM:200995 |
Lethal Acantholytic Erosive Disorder |
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Cardiomyopathy, Natal tooth, Cleft palate, Cardiomegaly |
ORPHA:158687 |
Double Outlet Left Ventricle |
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Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... |
ORPHA:3427 |
Complete Atrioventricular Septal Defect |
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Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
Cantú Syndrome |
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Abnormal heart valve morphology, Cardiomegaly, Wide mouth, Thick vermilion border, Long philtrum,... |
ORPHA:1517 |
Wolf-Hirschhorn Syndrome |
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Abnormal heart valve morphology, Hypospadias, Abnormality of the philtrum, Cleft upper lip, Micro... |
ORPHA:280 |
Amyloidosis, Hereditary, Transthyretin-Related |
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Cardiomyopathy, Amyloid deposition in the vitreous humor, Cardiomegaly |
OMIM:105210 |
Chromosome 1P36 Deletion Syndrome, Distal |
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11 pairs of ribs, Camptodactyly of finger, Metatarsus adductus, Wide anterior fontanel, Rib fusio... |
OMIM:607872 |
Isolated Right Ventricular Hypoplasia |
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Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Histiocytoid Cardiomyopathy |
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Hepatomegaly, Ventricular septal defect, Cardiomegaly, Optic atrophy, Cleft palate, Polycystic ov... |
ORPHA:137675 |
Coffin-Siris Syndrome 1 |
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Conical tooth, High palate, Short philtrum, Atrial septal defect, Microdontia, Hypospadias, Crypt... |
OMIM:135900 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
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Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... |
OMIM:202010 |
Tooth Agenesis, Selective, 4 |
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Abnormality of primary teeth, Agenesis of permanent teeth, Tooth agenesis, Palmoplantar hyperhidr... |
OMIM:150400 |
46,Xy Sex Reversal 7 |
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Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertrigly... |
OMIM:256040 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla... |
OMIM:130650 |
Arterial Calcification, Generalized, Of Infancy, 2 |
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Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
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Cardiomegaly, Elevated circulating creatine kinase concentration, Right ventricular hypertrophy, ... |
ORPHA:268 |
Testicular Agenesis |
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Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Bannayan-Riley-Ruvalcaba Syndrome |
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Intestinal polyposis, Abnormal large intestine morphology, Micrognathia, Narrow palate, Hamartoma... |
ORPHA:109 |
46,Xx Sex Reversal 2 |
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Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Townes-Brocks Syndrome 2 |
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Hypospadias, Rectovaginal fistula, Anal atresia, Bifid uterus |
OMIM:617466 |
Gallbladder Neuroendocrine Tumor |
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Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... |
ORPHA:100086 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
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Short lingual frenulum, Supernumerary nipple, Bifid uterus, Abnormal reproductive system morpholo... |
ORPHA:1521 |
Microcephaly 20, Primary, Autosomal Recessive |
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Hypoplasia of the uterus, Vaginal atresia, Optic nerve hypoplasia |
OMIM:617914 |
Renal Cysts And Diabetes Syndrome |
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Elevated hepatic transaminase, Hypospadias, Elevated circulating creatinine concentration, Biliar... |
OMIM:137920 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
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Hypoplasia of the uterus, Hypogonadotropic hypogonadism |
OMIM:614842 |
Microphthalmia, Syndromic 1 |
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Aganglionic megacolon, Bicuspid aortic valve, Hypospadias, Dental crowding, Cleft upper lip, High... |
OMIM:309800 |
Familial Aortic Dissection |
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Cardiomegaly |
ORPHA:229 |
Aorta Coarctation |
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Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Congenital Tracheomalacia |
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Ventricular septal defect, Cardiomegaly, Esophageal atresia, Partial anomalous pulmonary venous r... |
ORPHA:95430 |
Ketamine-Induced Biliary Dilatation |
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Abnormal biliary tract morphology |
ORPHA:293807 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Fused labia majora, Hyponatremia, Abnormal external genitalia, Hypogonadotropic hypogonadism, Pre... |
ORPHA:90794 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
Exstrophy-Epispadias Complex |
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Abnormality of the gastrointestinal tract, Bifid scrotum, Anal stenosis, Bifid uterus, Epispadias... |
ORPHA:322 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
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Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei... |
ORPHA:90796 |
Townes-Brocks Syndrome 1 |
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Bifid scrotum, Anal stenosis, Rectoperineal fistula, Ventricular septal defect, Hypospadias, Bifi... |
OMIM:107480 |
Naxos Disease |
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Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Estrogen Resistance |
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Hypoplasia of the uterus, Breast aplasia, Polycystic ovaries |
OMIM:615363 |
Estrogen Resistance Syndrome |
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Enlarged polycystic ovaries, Increased circulating gonadotropin level, Breast hypoplasia, Hypopla... |
ORPHA:785 |
Pallister-Killian Syndrome |
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11 pairs of ribs, Congenital hip dislocation, Rhizomelia, Edema of the dorsum of feet, Mesomelic/... |
OMIM:601803 |
Aicardi-Goutières Syndrome |
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Elevated hepatic transaminase, Cardiomegaly, Neonatal alloimmune thrombocytopenia, Hepatosplenome... |
ORPHA:51 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
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Long philtrum, Thick lower lip vermilion, Mesiodens, Narrow mouth |
ORPHA:314647 |
Truncus Arteriosus |
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Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
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Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Open mouth, Aplasia of the vagina, Optic nerve hypoplasia, Aplasia of the uterus |
ORPHA:457284 |
Familial Idiopathic Dilatation Of The Right Atrium |
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Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Abnormality of the hepatic vasculature... |
ORPHA:1677 |
Vascular Ehlers-Danlos Syndrome |
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High, narrow palate, Abnormality of the gingiva, Gingivitis, Gastrointestinal infarctions, Period... |
ORPHA:286 |
Tropical Endomyocardial Fibrosis |
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Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Eosinophilia, Cardiomega... |
ORPHA:75565 |
Arterial Calcification, Generalized, Of Infancy, 1 |
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Hypophosphatemic rickets, Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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High, narrow palate, Retrognathia, Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
Woodhouse-Sakati Syndrome |
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Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... |
OMIM:241080 |
Woodhouse-Sakati Syndrome |
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Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ... |
ORPHA:3464 |
Ectodermal Dysplasia And Immunodeficiency 1 |
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Conical incisor |
OMIM:300291 |
Ehlers-Danlos Syndrome, Vascular Type |
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Cryptorchidism, Cystocele, Mitral valve prolapse, Cervical insufficiency, Thin vermilion border, ... |
OMIM:130050 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
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Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
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Hypoplasia of the uterus, Increased circulating gonadotropin level, High palate |
OMIM:110100 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... |
OMIM:203700 |
Norrie Disease |
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Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, A... |
ORPHA:649 |
Absence Of The Pulmonary Artery |
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Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Fused labia majora, Bifid scrotum, Hyponatremia, Small scrotum, Hypospadias, Cryptorchidism, Vesi... |
OMIM:201750 |
Loeys-Dietz Syndrome |
|
Micrognathia, Orofacial cleft, High palate, Uterine rupture, Malar flattening, Bifid uvula |
ORPHA:60030 |
Singleton-Merten Syndrome 1 |
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Thin upper lip vermilion, Mitral valve calcification, Hypoplasia of the tooth germ, Cardiomegaly,... |
OMIM:182250 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Thick vermilion border, Lip telangiectasia, Cardiomegaly |
ORPHA:79280 |
Neurofibroma |
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Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Abnorma... |
ORPHA:252183 |
Generalized Arterial Calcification Of Infancy |
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Ventricular hypertrophy, Choroidal neovascularization, Cardiomegaly, Pericardial effusion, Abnorm... |
ORPHA:51608 |
Congenital Total Pulmonary Venous Return Anomaly |
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Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
11 pairs of ribs |
OMIM:615287 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pol... |
ORPHA:572333 |