| Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonatal death, Ve... |
OMIM:108720 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Clinodactyly of the 5th finger, Phocomelia, Genu varum, Low-set, posteriorly rotate... |
ORPHA:3320 |
| Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
| Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Nar... |
ORPHA:1452 |
| Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Abnormal... |
ORPHA:90652 |
| Fibrochondrogenesis 1 |
|
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely patent sagittal ... |
OMIM:228520 |
| Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han... |
OMIM:200600 |
| Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Micrognathia, Abnormal lung lobation, Orofacial cleft, Pectus carin... |
ORPHA:958 |
| Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... |
OMIM:200700 |
| Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Short femur, Micrognathia, Abnormal rib morphology, Rib fusion, Abnorma... |
ORPHA:1988 |
| Orofaciodigital Syndrome Type 10 |
|
Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation of the hand, ... |
ORPHA:2756 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Neonatal respiratory dis... |
OMIM:602471 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Thoracic hypoplasia, Later... |
OMIM:269250 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Beaded ribs, Micrognathia, Multiple prenatal fractures, Flexion contracture, Large fl... |
OMIM:616897 |
| 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 |
| Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Short thorax, Abnormal carpal morphol... |
ORPHA:85166 |
| Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Posteriorly rotated ears, Mic... |
OMIM:201170 |
| Dyggve-Melchior-Clausen Disease |
|
Mandibular prognathia, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing,... |
OMIM:223800 |
| Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Lateral clavicle hook, High, narrow pala... |
OMIM:600920 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Micrognathia, Dyspnea, Temporomandibular joint ankylosis, Aplasia/Hypoplasi... |
ORPHA:141152 |
| Microcephaly-Micromelia Syndrome |
|
Micromelia, Absent thumb, Absent radius, Missing ribs, Micrognathia, Humeroradial synostosis, Cra... |
OMIM:251230 |
| Cousin Syndrome |
|
Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger... |
OMIM:260660 |
| Atelosteogenesis Type Ii |
|
Micromelia, Micrognathia, Tracheobronchomalacia, Narrow chest, Short phalanx of finger, Broad met... |
ORPHA:56304 |
| Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Short humerus, Swan neck-like deformities of the fingers, Thoracic scoliosis, Recurrent respirato... |
OMIM:616716 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
| Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... |
OMIM:607778 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Talipes, M... |
OMIM:227270 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... |
ORPHA:440354 |
| Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Apnea, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High pala... |
OMIM:300373 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Abnormal scapula morphology, Aplasia/hypoplasia of the humerus, Aplasia/Hypopl... |
ORPHA:2141 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormality of the philtrum, Abnormality of the dentition, Abnormality of the ... |
ORPHA:3268 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Delayed epiphys... |
ORPHA:166016 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... |
ORPHA:85170 |
| Orofaciodigital Syndrome Vi |
|
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Conductive hearing impairment, Access... |
OMIM:277170 |
| Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
| Cleidocranial Dysplasia 1 |
|
Respiratory distress, Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of ... |
OMIM:119600 |
| Cenani-Lenz Syndrome |
|
Micromelia, High, narrow palate, Protruding ear, Foot oligodactyly, Short philtrum, Synostosis of... |
ORPHA:3258 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Lateral clavicle hook, Shoulder dislocation, Conductive hearing ... |
OMIM:171480 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Limited elbow flexion, Abnormal bone ossification, Short palm, S... |
ORPHA:79106 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short lingual frenulum, Micromelia, Fused teeth, Thoracic dysplasia, Narrow chest, High palate, M... |
OMIM:614091 |
| Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... |
OMIM:187601 |
| Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Neonatal respiratory distress, Small abnormally formed scapulae, Thorac... |
OMIM:187600 |
| Kyphomelic Dysplasia |
|
Micromelia, Micrognathia, Lateral clavicle hook, Tibial bowing, Femoral bowing, Pterygium, Short ... |
OMIM:211350 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Talipes, Hearing impairment, Limited elbow extension, Short... |
ORPHA:1856 |
| Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Lobulated tongue, Thoracic dysplasia, Narrow chest, Short palm, Neonatal deat... |
OMIM:269860 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Pierre-Robin sequence, A... |
OMIM:602196 |
| Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... |
OMIM:127300 |
| Ulbright-Hodes Syndrome |
|
Respiratory distress, Micrognathia, High palate, Phocomelia, Short metacarpal, Humeroradial synos... |
ORPHA:3404 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal should... |
OMIM:274000 |
| Achondroplasia |
|
Respiratory distress, Limited hip extension, Bowing of the legs, Generalized joint laxity, Femora... |
OMIM:100800 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyl... |
OMIM:210720 |
| Osteogenesis Imperfecta, Type X |
|
Osteopenia, Respiratory distress, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint... |
OMIM:613848 |
| Omodysplasia 2 |
|
Short humerus, Tented upper lip vermilion, Posteriorly rotated ears, Bilateral cleft lip, Microgn... |
OMIM:164745 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda... |
OMIM:609945 |
| Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Delayed closure of the anterior fontanelle, Abnormal foot morphology, Abnormal thorax morphology,... |
OMIM:605274 |
| Campomelic Dysplasia |
|
Respiratory distress, Irregular dentition, Thoracic scoliosis, Apnea, Anterior tibial bowing, Mic... |
OMIM:114290 |
| Phocomelia, Schinzel Type |
|
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Protruding ear, Foot ol... |
ORPHA:2879 |
| Atelosteogenesis Type Iii |
|
Short tubular bones of the hand, Micrognathia, Knee dislocation, High palate, Short tibia, Verteb... |
ORPHA:56305 |
| Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... |
ORPHA:1263 |
| Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... |
ORPHA:93405 |
| 3M Syndrome |
|
Congenital hip dislocation, Micromelia, Protruding ear, Enlarged thorax, Clinodactyly of the 5th ... |
ORPHA:2616 |
| Bowen-Conradi Syndrome |
|
Death in infancy, Camptodactyly of finger, Rocker bottom foot, Micrognathia, Joint stiffness, Abn... |
ORPHA:1270 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, Short tibia, ... |
OMIM:616300 |
| Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Microgn... |
ORPHA:628 |
| Orofaciodigital Syndrome X |
|
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Retrogna... |
OMIM:165590 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Malar flattening, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb u... |
OMIM:118651 |
| Acrorenal-Mandibular Syndrome |
|
Micrognathia, High palate, Narrow chest, Hypoplasia of the ulna, Split hand, Split foot, Low-set ... |
OMIM:200980 |
| Campomelic Dysplasia |
|
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ... |
ORPHA:140 |
| Brachydactyly Type A1 |
|
Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl... |
ORPHA:93388 |
| Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Split hand, Humeroradi... |
ORPHA:2019 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Femoral bowing, Pectus carinatum, Foot oligodactyly, High ... |
OMIM:276820 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap... |
OMIM:619598 |
| Acrodysostosis |
|
Delayed eruption of teeth, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the r... |
ORPHA:950 |
| Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
| Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Apnea, Single transverse palmar crease, Micrognathia, Tibial bowing, Femoral bow... |
OMIM:601559 |
| Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hearing impairment, Abnormal pinna... |
ORPHA:93333 |
| Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... |
OMIM:112910 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene... |
OMIM:609441 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Hearing abnorm... |
ORPHA:2412 |
| Van Bogaert-Hozay Syndrome |
|
Abnormal pinna morphology, Micrognathia, Osteolytic defects of the phalanges of the hand, Tooth m... |
OMIM:277150 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Median cleft lip, Cleft palate, Polydactyly, High palate, Short tibia, Recurrent aspi... |
OMIM:300484 |
| Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Hearing abnormality, Abnormal rib morp... |
ORPHA:2021 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling |
OMIM:600121 |
| Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Ulnar deviated club han... |
OMIM:164900 |
| Otoonychoperoneal Syndrome |
|
Hip contracture, Posteriorly rotated ears, Ankle flexion contracture, Aplasia/Hypoplasia of the f... |
OMIM:259780 |
| Melnick-Needles Syndrome |
|
Obtuse angle of mandible, Micrognathia, Tibial bowing, Narrow chest, Cone-shaped epiphyses of the... |
OMIM:309350 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Mandibular prognathia, Short humerus, Short metacarpal, Rhizomelia, Coxa vara, Genu valgum, Devia... |
ORPHA:2831 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Aplasia/Hypoplasia of the thumb, Low-set, posteriorly rotated ears, Abnormal m... |
ORPHA:1307 |
| Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short metatarsal, Pectus carinatum, Barrel-shaped chest, ... |
OMIM:271700 |
| Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity... |
OMIM:249700 |
| Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... |
OMIM:228900 |
| Odontochondrodysplasia 1 |
|
Respiratory distress, Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow... |
OMIM:184260 |
| Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal rib morphology, Wide nasal bridge, Conductive hearing impairm... |
ORPHA:1513 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Abnormal thorax morphology, Abnormal lung morphology, Cleft palate, Upper limb phocom... |
ORPHA:294975 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Pes planus, Tapered finger, Multiple joint dislocation, Hip... |
OMIM:618395 |
| Angioosteohypotrophic Syndrome |
|
Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in... |
ORPHA:75508 |
| Osteoglophonic Dysplasia |
|
Mandibular prognathia, Osteopenia, Respiratory distress, Hypoplasia of the maxilla, Short metatar... |
OMIM:166250 |
| Seckel Syndrome 1 |
|
Dental crowding, Abnormal finger flexion crease, Single transverse palmar crease, Selective tooth... |
OMIM:210600 |
| Microphthalmia With Limb Anomalies |
|
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp... |
OMIM:206920 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of ... |
OMIM:613091 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Wide n... |
ORPHA:2256 |
| Atelosteogenesis Type I |
|
Joint dislocation, Short femur, Rhizomelia, Micrognathia, Malrotation of colon, Abnormal ossifica... |
ORPHA:1190 |
| Autosomal Dominant Omodysplasia |
|
Short humerus, Rhizomelia, Micrognathia, Elbow dislocation, Patellar dislocation, Short palm, Mal... |
ORPHA:93328 |
| Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Hypoplasia of the ulna, Thin upper lip vermilion, Micrognathia, Downturned corners of mouth, Micr... |
OMIM:615162 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,... |
OMIM:308050 |
| Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Thin upper lip vermilion, Micrognathia, Microtia, Everted lower lip vermi... |
ORPHA:357175 |
| Postaxial Acrofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of fi... |
ORPHA:246 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o... |
OMIM:600002 |
| Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Craniofacial hyperostosis, Generalized osteosclerosis, Sensorineural heari... |
ORPHA:2790 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... |
ORPHA:52056 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Short humerus, Thin upper lip vermilion, Short femur, Sandal gap, Rhizomeli... |
OMIM:607143 |
| Smith-Mccort Dysplasia 1 |
|
Barrel-shaped chest, Short metacarpal, Multicentric femoral head ossification, Iliac crest serrat... |
OMIM:607326 |
| Lipedema |
|
Edema |
OMIM:614103 |
| Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Abnormal dental morpholog... |
ORPHA:2878 |
| Metatropic Dysplasia |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Micromelia, Abnormal enchondral ossif... |
ORPHA:2635 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat... |
OMIM:147891 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia,... |
ORPHA:96334 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
| Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia |
OMIM:172880 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Lateral clavicle hook, Early ossification of capital femoral epiphyses, Thoracic dysplasia, Narro... |
OMIM:208500 |
| Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Broad hallux, Micrognathia... |
OMIM:212780 |
| Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora... |
ORPHA:474 |
| Crane-Heise Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Abnormally ossified vertebrae, Toe syndacty... |
ORPHA:1512 |
| Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Talipes, Micromelia, Joint stiffness, Metatarsus ad... |
ORPHA:2249 |
| Ulnar Hypoplasia With Mental Retardation |
|
Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement |
OMIM:276821 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Long palm, Arachnodactyly, Abnormality of... |
ORPHA:2759 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Micrognathia, Lateral clavicle hook, Preaxial polydactyly, Long thorax, Narrow greater sciatic no... |
OMIM:617925 |
| Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
| Marshall-Smith Syndrome |
|
Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Apnea, Distal wideni... |
OMIM:602535 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Micrognathia, Craniosynostosis, Split hand, Abnormal rib morpholog... |
ORPHA:2145 |
| Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Glossoptosis, High palate, Clin... |
OMIM:117650 |
| Achondrogenesis Type 1B |
|
Micromelia, Micrognathia, Abnormal enchondral ossification, Short thorax, Abnormal rib morphology... |
ORPHA:93298 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
| Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol... |
ORPHA:1106 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Limited elbow movement, Micrognathia, Reduced bone mineral density, Glossoptosis, Barrel-shaped c... |
ORPHA:94068 |
| Mental Retardation Syndrome, Mietens-Weber Type |
|
Pes planus, Elbow flexion contracture, Forearm undergrowth, Absent proximal radial epiphyses, Dis... |
OMIM:249600 |
| Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... |
ORPHA:2839 |
| Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Narrow... |
OMIM:156530 |
| Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... |
ORPHA:1801 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi... |
ORPHA:1788 |
| Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
| Cranioectodermal Dysplasia 1 |
|
Single transverse palmar crease, High, narrow palate, Protruding ear, High palate, Narrow chest, ... |
OMIM:218330 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Tapered finger, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxate... |
OMIM:311895 |
| Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
| Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Micromelia, Micrognathia, Generalized osteosclerosis, Macroglossia, Short l... |
ORPHA:1423 |
| Santos Syndrome |
|
Syndactyly, Short stature, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu... |
OMIM:613005 |
| Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa... |
ORPHA:2098 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Pectus excavatum, Hamartoma of to... |
OMIM:258860 |
| Boomerang Dysplasia |
|
Absent radius, Wide nasal bridge, Hypoplastic iliac body, Neonatal death, Fibular aplasia |
OMIM:112310 |
| Grant Syndrome |
|
Joint dislocation, Bowing of the long bones, Micrognathia, Open bite, Abnormal cortical bone morp... |
ORPHA:2097 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Abnormality of the dentition, Micrognathia, Hand oligodactyly, Cleft... |
ORPHA:3104 |
| Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the max... |
OMIM:224690 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Micromelia, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia... |
OMIM:151210 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Low-set, posteriorly rotated ears, Bowing of the long bones, Camptodactyly of finger, Elbow dislo... |
ORPHA:2631 |
| Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Pectus excavatum, Long fingers,... |
OMIM:614753 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... |
ORPHA:93267 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Micrognathia, Short palm, Duplication of the distal ... |
OMIM:268310 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Micromelia, Osteoarthritis, Abnormal carpal morphology, Short metatarsal, Coxa vara, Pectus carin... |
ORPHA:93351 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Protruding ear, High palate... |
OMIM:268305 |
| Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Coxa valga, Metaphyseal sclerosis, Enlargement of the costochondral junction, Meta... |
OMIM:609052 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Micromelia, Hypopla... |
OMIM:617895 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
| Mietens Syndrome |
|
Hypoplasia of the ulna, Talipes, Coxa valga, Metatarsus adductus, Avascular necrosis of the capit... |
ORPHA:2557 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Short humerus, Rhizomelia, Micrognathia, Submucous cleft hard palate, Flexion contrac... |
OMIM:222765 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla... |
ORPHA:2491 |
| Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Posteriorly rotated ears, Rocker bottom foot, Micrognathia, Wide nasal bridge, ... |
OMIM:618393 |
| Heart Defects-Limb Shortening Syndrome |
|
Death in infancy, Mesomelic/rhizomelic limb shortening, Abnormal rib morphology, Narrow chest, Ab... |
ORPHA:1354 |
| Asbestos Intoxication |
|
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... |
ORPHA:2302 |
| Odontochondrodysplasia |
|
Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Respiratory distress, Micr... |
ORPHA:166272 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... |
ORPHA:363417 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Posteriorly rotated ears, Micrognathia, Dyspnea, Gingival fibromatosis, Gin... |
ORPHA:1832 |
| Achondrogenesis Type 1A |
|
Multiple rib fractures, Recurrent fractures, Micromelia, Micrognathia, Abnormal enchondral ossifi... |
ORPHA:93299 |
| Craniosynostosis With Fibular Aplasia |
|
Single transverse palmar crease, Craniosynostosis, Fibular aplasia |
OMIM:218550 |
| Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Aplasia of the ulna, Absen... |
OMIM:142900 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
| Diastrophic Dysplasia |
|
Hip contracture, Costal cartilage calcification, Flattened epiphysis, Genu valgum, Ulnar deviatio... |
OMIM:222600 |
| Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... |
ORPHA:168549 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Intestinal malrotation, M... |
ORPHA:3035 |
| Ivic Syndrome |
|
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... |
OMIM:147750 |
| Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Micrognathia, Hypoplasia of the maxilla, Multiple prenatal fractures, Pa... |
OMIM:215140 |
| Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Micrognathia, Metaphyseal widening, Death in childhood, Progressive alveolar ridge hy... |
OMIM:252500 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Craniofacial hyperostosis, Thickened ribs, Cortical sclerosis, Craniofacia... |
OMIM:122860 |
| Ulnar Hypoplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... |
OMIM:191440 |
| Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
| Melnick-Needles Syndrome |
|
Micrognathia, Narrow chest, Short thorax, Abnormal rib morphology, Cone-shaped epiphyses of the p... |
ORPHA:2484 |
| Catel-Manzke Syndrome |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Metatarsus valgus, Pectus excavatum, ... |
ORPHA:1388 |
| Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Humeroradial synostosis, Rib fusio... |
OMIM:134780 |
| Acrocraniofacial Dysostosis |
|
Micrognathia, Short philtrum, Triphalangeal thumb, Abnormality of the malleus, Conductive hearing... |
ORPHA:949 |
| Hypophosphatasia |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormality of the dentition, Em... |
ORPHA:436 |
| Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... |
ORPHA:1860 |
| Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Conical tooth, Pectus excavatum, ... |
OMIM:263750 |
| Mosaic Trisomy 14 |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Lower limb asymmetry, A... |
ORPHA:1703 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Cleft upper lip, Micrognathia, Hypoplasia of the radiu... |
OMIM:602418 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious... |
OMIM:617102 |
| Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili... |
ORPHA:93296 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Hypoplasia of the maxilla, Sensorineural hearing impairment, Genu valgum, Slender lon... |
OMIM:608154 |
| W Syndrome |
|
Hypoplasia of the ulna, Pes planus, Radial bowing, Broad uvula, Metatarsus adductus, Elbow disloc... |
ORPHA:2804 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
| Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Cleft pa... |
OMIM:258865 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
High, narrow palate, Flexion contracture, Femoral bowing, Anteriorly placed anus, Narrow chest, C... |
ORPHA:95699 |
| Aarskog-Scott Syndrome |
|
Genu recurvatum, Single transverse palmar crease, Hypoplasia of the maxilla, Orofacial cleft, Sho... |
ORPHA:915 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Short stature, Accessory oral frenulum, Absent tragus, Micrognathia, Preaxial hand polydactyly, H... |
ORPHA:79113 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
| Alagille Syndrome |
|
Hypoplasia of the ulna, Micrognathia, Long nose, Abnormal rib morphology, Protruding ear, Short p... |
ORPHA:52 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Micrognathia, Knee dislocation, Irregular epiphyses of the metacarpals, Short metacarpal, Hitchhi... |
OMIM:614078 |
| Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
| Omodysplasia 1 |
|
Micrognathia, Limited elbow flexion, Short tibia, Increased fibular diameter, Rhizomelia, Pulmona... |
OMIM:258315 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Flexion contracture, Tibi... |
OMIM:143095 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Thin ribs, ... |
OMIM:620076 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Hypoplasia of the maxilla, Osteopo... |
OMIM:156510 |
| Pallister-Hall Syndrome |
|
Abnormal lung lobation, Anteriorly placed anus, Neonatal death, Distal shortening of limbs, Synda... |
OMIM:146510 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Respiratory distress, Multiple joint contractures, Micrognathia, Metaphyseal widening... |
ORPHA:536467 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Death in early adulthood, Hypoplastic scapulae, Femoral retroversion, Micromelia, Sensorineural h... |
ORPHA:79107 |
| Catel-Manzke Syndrome |
|
Joint dislocation, Single transverse palmar crease, Micrognathia, Pectus carinatum, Glossoptosis,... |
OMIM:616145 |
| X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Abnormal number of incisors, Coxa valga, Osteoporosis, Finger clinodactyly, Patellar subluxation,... |
ORPHA:2958 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Micrognathia, Knee dislocation, High palate, Amelogenesis imperfecta, Micr... |
OMIM:618363 |
| Fanconi Anemia, Complementation Group O |
|
Chromosome breakage, Death in infancy, Short stature, Miscarriage, Proximal placement of thumb, A... |
OMIM:613390 |
| Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Thin upper lip vermilion, Death in infancy, Micrognathia, Ulnar bowing, S... |
OMIM:619135 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Atelectasis, Thin ribs, High palate, Neonatal death, Retr... |
OMIM:300219 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Bowing of the long bones, Death in adolescence, Pulmonary arterial hyperten... |
OMIM:619751 |
| Arthrogryposis, Distal, Type 7 |
|
Micrognathia, Metatarsus adductus, Trismus, Deep philtrum, Hip dislocation, Cutaneous syndactyly ... |
OMIM:158300 |
| Distal Duplication 5Q |
|
Hypoplasia of the ulna, Craniosynostosis, Absent thumb, Carious teeth, Micrognathia, Hypoplasia o... |
ORPHA:96097 |
| Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Respiratory distress, Wide cranial sutures, Short femur, Metaphyseal spurs, Recurrent... |
OMIM:618188 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Joint dislocation, Respiratory distress, Micrognathia, Wide mouth, Widely spaced teeth, Clinodact... |
OMIM:300934 |
| Auriculocondylar Syndrome 2A |
|
Overfolding of the superior helices, Respiratory distress, Dental crowding, Posteriorly rotated e... |
OMIM:614669 |
| Waardenburg Syndrome Type 3 |
|
Tented upper lip vermilion, Camptodactyly of finger, Hearing impairment, Joint stiffness, Atelect... |
ORPHA:896 |
| Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b... |
OMIM:608022 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Bowing of the legs, Delayed epiphyseal ossification, Deformed rib cage, Femoral bowing, Tibial bo... |
OMIM:277440 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Recurrent respiratory infections, Abnormal rib morphology, Downturned corners of mouth, Abnormal ... |
ORPHA:2643 |
| Orofaciodigital Syndrome Type 2 |
|
Apnea, Micrognathia, Complete duplication of hallux phalanx, Tachypnea, Protruding ear, Finger cl... |
ORPHA:2751 |
| Kinsship Syndrome |
|
Mandibular prognathia, Osteopenia, Single transverse palmar crease, Micrognathia, Downturned corn... |
OMIM:619297 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar... |
ORPHA:2639 |
| Trochlea Of The Humerus, Aplasia Of |
|
Short humerus, Cleft palate |
OMIM:191000 |
| Diamond-Blackfan Anemia 11 |
|
Hypoplasia of the ulna, Bilateral cleft palate, Absent thumb, Unilateral radial aplasia, Hypoplas... |
OMIM:614900 |
| Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Hypoplastic iliac wing, Pterygium, ... |
OMIM:263650 |
| Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... |
ORPHA:750 |
| Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate... |
OMIM:249710 |
| Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Abnormality of chromosome stability, Pancytopenia |
OMIM:600546 |
| Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Craniosynostosis, Orofacial cleft, Forearm undergrowth, Lower limb undergrowth |
OMIM:218650 |
| Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Abnormal pinna morphology, Split hand, Hand oligodactyly, Cleft palate,... |
OMIM:183600 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasi... |
ORPHA:3082 |
| Juberg-Hayward Syndrome |
|
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m... |
ORPHA:2319 |
| Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Hearing impairment, Cox... |
OMIM:618150 |
| Arthrogryposis, Distal, Type 1C |
|
Hip contracture, Pursed lips, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of ... |
OMIM:619110 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Hearing abn... |
ORPHA:1352 |
| Ulnar Hypoplasia-Split Foot Syndrome |
|
Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna |
ORPHA:1122 |
| Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e... |
OMIM:618022 |
| Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, C... |
OMIM:218600 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Recurrent respiratory infections, Postaxial polydactyly, Lateral clavicle hook, Respiratory insuf... |
OMIM:615633 |
| Radio-Renal Syndrome |
|
Respiratory distress, Micromelia, Micrognathia, High, narrow palate, Dyspnea, Hypoplasia of the r... |
ORPHA:3015 |
| Aase-Smith Syndrome |
|
Multiple joint contractures, Abnormal pinna morphology, Camptodactyly of finger, Joint stiffness,... |
ORPHA:916 |
| Dystonia-Deafness Syndrome 1 |
|
Hypoplastic scapulae, Femoral retroversion, Cleft upper lip, Sensorineural hearing impairment, Cl... |
OMIM:607371 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... |
OMIM:600081 |
| Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Rhizomelia, Pterygium, Micromelia, Micrognathia, Elbow disloca... |
ORPHA:93329 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Hypoplasia of the ulna, Abnormality of the dentition, Pectus excavatum, Deep philtrum... |
OMIM:615398 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Recurrent respiratory infections, Glue ear, Short foot, Wide mouth, Median pseudocleft lip, Recur... |
OMIM:619758 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Ulnar deviation of the hand, Ankle swelling, Micrognathia, Wrist swelling, Hypoplasia... |
OMIM:166300 |
| Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Recurrent pneumonia,... |
OMIM:602271 |
| Atelosteogenesis, Type Ii |
|
Death in infancy, Sandal gap, Micromelia, Micrognathia, Bifid humerus, Flat acetabular roof, Shor... |
OMIM:256050 |
| Kniest Dysplasia |
|
Respiratory distress, Enlarged joints, Delayed epiphyseal ossification, Coxa vara, Tibial bowing,... |
OMIM:156550 |
| Holzgreve Syndrome |
|
Low-set, posteriorly rotated ears, Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongu... |
ORPHA:2167 |
| Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal clavicle morphology, Abnormal morphology of ulna, Micro... |
ORPHA:1350 |
| Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Hallux valgus, Osteopenia, Micrognathia, Long hallux, Pectus carinatum, High palate, Recurrent lo... |
OMIM:620194 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Joint stiffness, Cupped ribs, Metaphyseal widening, Dental malocclu... |
OMIM:608940 |
| Diaphanospondylodysostosis |
|
Respiratory distress, Missing ribs, Short thorax, Cleft palate, Narrow pelvis bone, Enlarged thor... |
ORPHA:66637 |
| Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Recurrent respiratory infections, Recurrent otitis media, Polydactyly, Bron... |
OMIM:615993 |
| Martsolf Syndrome 1 |
|
Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Pectus carinatu... |
OMIM:212720 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of the hand, Abn... |
OMIM:271665 |
| Atelosteogenesis, Type Iii |
|
Radial bowing, Sandal gap, Rhizomelia, Micrognathia, Tombstone-shaped proximal phalanges, Elbow d... |
OMIM:108721 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal rib mor... |
ORPHA:1836 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Lateral clavicle hook, Preaxial ha... |
OMIM:263520 |
| Moebius Syndrome |
|
Respiratory distress, Syndactyly, Brachydactyly, Pes planus, Abnormal pinna morphology, Abnormali... |
OMIM:157900 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the thumb, Abnormality of the middle ear ossicles, Preaxial hand polydactyl... |
ORPHA:2549 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars... |
ORPHA:93307 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Neonatal respiratory distress, Bowed humerus, Short lingual frenul... |
OMIM:619479 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Death in infancy, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, ... |
OMIM:617405 |
| Nager Syndrome |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of t... |
ORPHA:245 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Micromelia, Bowing of the legs, Micrognathia, Flexion contracture, Narrow chest, Pterygium, Wide ... |
ORPHA:1865 |
| Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Thin upper lip vermilion, Abnormality of the hand, Frontal encephalocele, Downturned corners of m... |
ORPHA:521308 |
| Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Hip contracture, Scapular winging, Internally rotated shoulders, Dental crowding, Ankle flexion c... |
OMIM:617468 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurr... |
OMIM:264700 |
| Postaxial Tetramelic Oligodactyly |
|
Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology |
ORPHA:2730 |
| Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Pa... |
ORPHA:249 |
| Fanconi Anemia, Complementation Group G |
|
Abnormality of chromosome stability, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:614082 |
| Kagami-Ogata Syndrome |
|
Long clavicles, Coxa valga, Micrognathia, Long fingers, Hypoplasia of the maxilla, Flexion contra... |
OMIM:608149 |
| 3Mc Syndrome 2 |
|
Prominence of the premaxilla, Joint hypermobility, Limited elbow movement, Cleft upper lip, Crani... |
OMIM:265050 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Capitate-hamate fusion, Enlargement ... |
OMIM:271650 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
| Shox-Related Short Stature |
|
Micrognathia, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Hi... |
ORPHA:314795 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Hip contracture, Rocker bottom foot, Ankle flexion contracture, Micrognathi... |
ORPHA:1143 |
| Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... |
ORPHA:70589 |
| Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Micrognath... |
OMIM:620369 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Low-set, posteriorly rotated ears, Recurrent fractures, Micrognathia, Abnormality of the elbow, A... |
ORPHA:1486 |
| Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Long thorax, Mesomelia, Abnormal pala... |
ORPHA:1277 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Barrel-shaped chest, Short humerus, Bowing of the long bones, Osteopenia, Increased bone mineral ... |
OMIM:239000 |
| Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Femoral retroversion, Micrognathia, Knee flexion contractur... |
OMIM:616531 |
| Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Death in infancy, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality... |
ORPHA:163966 |
| Fibular Aplasia-Ectrodactyly Syndrome |
|
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula |
ORPHA:1118 |
| Aicardi Syndrome |
|
Intestinal polyposis, Prominence of the premaxilla, Block vertebrae, Missing ribs, Cleft upper li... |
ORPHA:50 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Occipital encephalocele, Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Oligodactyly |
OMIM:614416 |
| Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
| Meier-Gorlin Syndrome 4 |
|
Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Thick lower lip ... |
OMIM:613804 |
| Duane-Radial Ray Syndrome |
|
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Upper limb muscle hypoplasia, Sy... |
OMIM:607323 |
| Holt-Oram Syndrome |
|
Finger syndactyly, Abnormal clavicle morphology, Down-sloping shoulders, Absent thumb, Abnormalit... |
ORPHA:392 |
| Tarp Syndrome |
|
Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Neonatal death, Wide na... |
OMIM:311900 |
| Pycnodysostosis |
|
Abnormal clavicle morphology, Obtuse angle of mandible, Persistent open anterior fontanelle, Micr... |
ORPHA:763 |
| Arms, Malformation Of |
|
Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius |
OMIM:107900 |
| Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Tibial bowing, Fem... |
OMIM:304120 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Proximal placement of thumb, Absent radius, Esophageal atresia, Tracheoesophageal ... |
OMIM:314390 |
| Fibrochondrogenesis 2 |
|
Thoracic hypoplasia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Short nos... |
OMIM:614524 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Camptodactyly of finger, Pectus excavatum, Cleft palate, Respiratory insuff... |
OMIM:614399 |
| Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short... |
OMIM:271530 |
| Frontonasal Dysplasia 1 |
|
Median cleft lip, Hypoplasia of the maxilla, Postaxial hand polydactyly, Hypoplastic frontal sinu... |
OMIM:136760 |
| Occipital Horn Syndrome |
|
Joint laxity, Short humerus, Persistent open anterior fontanelle, Pes planus, Pelvic bone exostos... |
OMIM:304150 |
| Primary Ciliary Dyskinesia |
|
Conductive hearing impairment, Chronic otitis media, Neonatal respiratory distress, Respiratory t... |
ORPHA:244 |
| Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
| Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Short philtrum,... |
ORPHA:439822 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ... |
OMIM:250460 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Pectus excavatum, Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexi... |
OMIM:210710 |
| Slc35A2-Cdg |
|
Osteopenia, Limb joint contracture, Camptodactyly of finger, Abnormality of the hand, Coxa valga,... |
ORPHA:356961 |
| Renpenning Syndrome |
|
Mandibular prognathia, Macrodontia, Joint stiffness, Pectus excavatum, Abnormal thumb morphology,... |
ORPHA:3242 |
| Recon Progeroid Syndrome |
|
Joint laxity, Attached earlobe, Prominence of the premaxilla, Arachnodactyly, Dental crowding, Pr... |
OMIM:620370 |
| Immunodeficiency 43 |
|
Hypoplasia of the ulna, Recurrent respiratory infections, Radial bowing, Lung abscess, Bronchiect... |
OMIM:241600 |
| Meier-Gorlin Syndrome 3 |
|
Micrognathia, Hypoplasia of the maxilla, Coxa vara, Patellar hypoplasia, Narrow chest, Genu varum... |
OMIM:613803 |
| Codas Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse... |
OMIM:600373 |
| Desbuquois Dysplasia 1 |
|
Joint dislocation, Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis,... |
OMIM:251450 |
| 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 |
| Pseudoachondroplasia |
|
Genu recurvatum, Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Metaphys... |
OMIM:177170 |
| Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Multiple pterygia, Cleft upper lip, Micrognathia, Flexion co... |
OMIM:312150 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Micromelia, Delayed epiphyseal ossification, Deep philtrum, Tachypnea, Narrow chest, Death in chi... |
OMIM:613320 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Rocker bottom foot, Micrognathia, Cleft palate, Talipes equinovarus, Low-set ears, Intrauterine g... |
OMIM:616570 |
| 20P12.3 Microdeletion Syndrome |
|
Broad hallux phalanx, Hypoplasia of the maxilla, Narrow mouth, Wide nasal bridge, Pectus carinatu... |
ORPHA:261295 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Short femur, Bilateral cleft lip, Cleft upper lip, Foot oligodactyly, Low... |
OMIM:601357 |
| Cooper-Jabs Syndrome |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Proximal placement of thumb, Missing ... |
ORPHA:1488 |
| Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
| Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus cari... |
OMIM:253000 |
| Lujan-Fryns Syndrome |
|
Dental crowding, Arachnodactyly, Camptodactyly of finger, Abnormality of the dentition, Pectus ex... |
ORPHA:776 |
| Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Anotia, Clino... |
ORPHA:2554 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Otitis media, Chronic sinusitis, Recurrent bronchitis, High-frequency hearing impair... |
OMIM:300455 |
| Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Split hand, Cleft palate... |
OMIM:246560 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th... |
OMIM:241530 |
| Gordon Syndrome |
|
Finger syndactyly, Short stature, Camptodactyly of finger, Pectus excavatum, Cleft palate, High p... |
ORPHA:376 |
| Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... |
ORPHA:90650 |
| Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Accessory oral frenulum, Dias... |
OMIM:617927 |
| Pallister-Hall-Like Syndrome |
|
Death in infancy, Toe syndactyly, Median cleft lip, Micromelia, Micrognathia, Postaxial hand poly... |
OMIM:241800 |
| Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Abnormal pinna morphology, Hearing impai... |
OMIM:184705 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c... |
OMIM:300863 |
| Perching Syndrome |
|
Respiratory distress, Joint contracture, High palate, Camptodactyly |
OMIM:617055 |
| Tetrasomy 9P |
|
Joint dislocation, Glue ear, Dental crowding, Micrognathia, Downturned corners of mouth, High pal... |
ORPHA:3310 |
| Jackson-Weiss Syndrome |
|
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met... |
ORPHA:1540 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... |
ORPHA:93308 |
| Mohr Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... |
OMIM:252100 |
| Acrorenal Syndrome |
|
Hand oligodactyly |
OMIM:102520 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Hypoplasia of the maxilla, Tachypnea, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Neona... |
ORPHA:79345 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Protruding ear, High palate, ... |
ORPHA:85279 |
| Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Microretrognathia, Rhizomeli... |
OMIM:616229 |
| Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Osteopenia, Broad long bones, Dental crowding, Wormian bones,... |
OMIM:269300 |
| Van Maldergem Syndrome 1 |
|
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... |
OMIM:601390 |
| Antley-Bixler Syndrome |
|
Low-set, posteriorly rotated ears, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Tal... |
ORPHA:83 |
| Conductive Deafness-Malformed External Ear Syndrome |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... |
ORPHA:3216 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Tapered finger, Hypoplasia of the maxilla, Long fingers, Respiratory tract infection, Flexion con... |
OMIM:218000 |
| Multiple Synostoses Syndrome 3 |
|
Broad hallux, Limited interphalangeal movement, Hallux varus, Cubitus valgus, Humeroradial synost... |
OMIM:612961 |
| Phaver Syndrome |
|
Broad hallux phalanx, Posteriorly rotated ears, Camptodactyly of finger, Joint stiffness, Short t... |
ORPHA:2876 |
| Familial Median Cleft Of The Upper And Lower Lips |
|
Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Abnormal mandible morphology, A... |
ORPHA:401942 |
| Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Microretrognathia, Absent vertebral body mineralization, Broad long bones, S... |
OMIM:200610 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarpals, Thoraci... |
OMIM:300232 |
| Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Hypoplastic vertebral b... |
OMIM:224300 |
| N Syndrome |
|
Abnormality of chromosome stability, Leukemia |
OMIM:310465 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion... |
ORPHA:1145 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Thin bony cortex, Coxa valg... |
ORPHA:85184 |
| Upper Limb Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger |
ORPHA:2497 |
| Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa... |
OMIM:617604 |
| Maxillonasal Dysplasia |
|
Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Open bite, Hypopla... |
ORPHA:1248 |
| Acromegaloid Facial Appearance Syndrome |
|
Joint hypermobility, Tapered finger, Micrognathia, Deep philtrum, Large hands, Thick vermilion bo... |
OMIM:102150 |
| Craniofacial-Deafness-Hand Syndrome |
|
Ulnar deviation of the wrist, Camptodactyly of finger, Hypoplasia of the maxilla, Sensorineural h... |
ORPHA:1529 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... |
OMIM:600785 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Carious teeth, Thin clavicles, Small hand, Th... |
ORPHA:93324 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Neonatal respiratory distress, Metaphyseal widening, Squared iliac bones, Short lo... |
OMIM:618961 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Protruding e... |
OMIM:300534 |
| Farber Disease |
|
Respiratory distress, Abnormality of the knee, Abnormality of the hand, Nodular pattern on pulmon... |
ORPHA:333 |
| Frontometaphyseal Dysplasia 1 |
|
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... |
OMIM:305620 |
| Osteogenesis Imperfecta, Type Ix |
|
Short lower limbs, Recurrent fractures, Beaded ribs, Pectus excavatum, Multiple prenatal fracture... |
OMIM:259440 |
| Chondrodysplasia, Blomstrand Type |
|
Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv... |
OMIM:215045 |
| X-Linked Hypophosphatemia |
|
Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,... |
ORPHA:89936 |
| Tarp Syndrome |
|
Apnea, Single transverse palmar crease, Micrognathia, Glossoptosis, Small earlobe, Low-set, poste... |
ORPHA:2886 |
| Aspergillosis |
|
Sinusitis, Abnormal long bone morphology, Diffuse reticular or finely nodular infiltrations, Coug... |
ORPHA:1163 |
| Thoracomelic Dysplasia |
|
Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shaped thorax, Joint hyperflexib... |
ORPHA:1803 |
| Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Stiff neck, Micrognathia, Narrow palate, Femoral bowing, Macroglossia, Short ... |
OMIM:617022 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Bilateral single transverse palmar creases, Proximal placement of thumb, Abnorm... |
ORPHA:1120 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... |
OMIM:170390 |
| 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 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Hearing impairment, Abnormal thorax m... |
ORPHA:508542 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Conductive hearing impairment, G... |
OMIM:250420 |
| Metaphyseal Anadysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Abnormality of the lower ... |
ORPHA:1040 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
|
Abnormal hand morphology, Small hand, Cleft palate, Short foot, Malar flattening |
OMIM:300261 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Glossoptosis, High... |
OMIM:611209 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Thin bony cortex, Ost... |
ORPHA:289157 |
| Yunis-Varon Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short metatarsal, Palm... |
OMIM:216340 |
| Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Abnormality of the dentition, Osteolysis, Short distal phalanx of finger |
ORPHA:2776 |
| Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac... |
OMIM:253010 |
| Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
| Aicardi Syndrome |
|
Prominence of the premaxilla, Block vertebrae, Proximal placement of thumb, Missing ribs, Cleft u... |
OMIM:304050 |
| Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... |
ORPHA:959 |
| Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Single transverse palmar crease, Hypoplasia of the maxil... |
OMIM:305400 |
| Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Pectus excavatum, Osteoarthritis, Sensorineural hearing impairment, Cleft palate, P... |
ORPHA:166100 |
| Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serration, Rhizome... |
ORPHA:239 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Multiple pterygia, Micrognathia, Flexion contracture, Cleft ... |
OMIM:253290 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Pectus excavatum, Metap... |
OMIM:608728 |
| Arthrogryposis Multiplex Congenita-Whistling Face Syndrome |
|
Low-set, posteriorly rotated ears, Micrognathia, Joint stiffness, Whistling appearance, Hearing a... |
ORPHA:1150 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Br... |
OMIM:300106 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Joint laxity, Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carp... |
OMIM:620269 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Pes planus, Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hypoplasia of the od... |
OMIM:184250 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Missing ribs, Abnormal... |
ORPHA:3186 |
| Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Osteoarthritis, Sensorineural hearing impairment, Cleft palate, Joint ... |
ORPHA:90653 |
| Pelvis-Shoulder Dysplasia |
|
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short... |
OMIM:169550 |
| Cleidocranial Dysplasia 2 |
|
Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Delayed eruption o... |
OMIM:620099 |
| Keipert Syndrome |
|
Broad hallux phalanx, Tented upper lip vermilion, Exaggerated cupid's bow, Short hallux, Aplasia/... |
ORPHA:2662 |
| Van Maldergem Syndrome 2 |
|
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... |
OMIM:615546 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Abnormal rib morphology, Wi... |
ORPHA:2180 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... |
OMIM:607078 |
| Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo... |
ORPHA:2496 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Meta... |
OMIM:182212 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Single transverse palmar crease, Rocker bottom foot, Micrognathia, Respiratory insufficiency due ... |
OMIM:611890 |
| Rothmund-Thomson Syndrome |
|
Delayed eruption of teeth, Hypoplasia of the ulna, Plantar hyperkeratosis, Osteopenia, Abnormal t... |
ORPHA:2909 |
| Terminal Osseous Dysplasia |
|
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Abnorm... |
OMIM:300244 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Mixed hearing impairment, Enlarged joints, Large tarsal bones, Micrognathia... |
OMIM:215150 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,... |
OMIM:259600 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Micromelia, Limitation of joint mobility, Coxa vara, Flared, irregular rib ends, Short palm |
ORPHA:168555 |
| Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Bowing of the long bones, Abnormal dental enamel morphology, Coxa valga, Grayi... |
ORPHA:582 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary artery dilatation, Prominence of the premaxilla, Arachnodactyly, Abnormal pinna morphol... |
OMIM:614437 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
11 pairs of ribs, Hyperextensibility of the finger joints, Recurrent respiratory infections, Neon... |
OMIM:618356 |
| Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... |
ORPHA:1426 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... |
OMIM:610978 |
| Cohen Syndrome |
|
Pes planus, Short metacarpal, Thoracic scoliosis, Single transverse palmar crease, Tapered finger... |
OMIM:216550 |
| Cartilage-Hair Hypoplasia |
|
Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Pectus carinatum, Narrow chest, Short pa... |
ORPHA:175 |
| Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... |
ORPHA:3312 |
| Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Flexion contracture, Downturned corners of mouth, Narrow chest, Small earlobe, Genu... |
OMIM:264090 |
| Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Osteopenia, Thin upper lip vermilion, Joint hypermobility, Abnormality of the hand, Abnormality o... |
ORPHA:576283 |
| Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Death in infancy, Camptodactyly of finger, Talipes, Micrognathia, Recurrent pneumonia, Protruding... |
ORPHA:1495 |
| Shprintzen-Goldberg Syndrome |
|
Osteopenia, Apnea, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Pectus carinatum... |
ORPHA:2462 |
| Hypophosphatasia, Childhood |
|
Premature loss of primary teeth, Craniosynostosis, Carious teeth, Bowing of the legs, Rachitic ro... |
OMIM:241510 |
| Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor... |
OMIM:311300 |
| Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ... |
OMIM:201000 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Atelectasis, Achilles tendon contracture, Proximal upper limb muscle hypertrophy, Calf muscle hyp... |
ORPHA:254361 |
| Ulnar-Mammary Syndrome |
|
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... |
OMIM:181450 |
| Premature Aging Syndrome, Penttinen Type |
|
Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the knee, Palmoplantar hyperkerato... |
OMIM:601812 |
| Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Recurrent otitis media, Chr... |
OMIM:616726 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Hallux valgus, Congenital hip dislocation, Posteriorly rotated ears, Limited elbow movement, Broa... |
OMIM:300280 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Micrognathia, Metaphyseal widening, Abnormal thorax morphology, Triangular shaped distal phalange... |
ORPHA:73230 |
| Trisomy 13 |
|
Median cleft lip, Abnormality of the dentition, High, narrow palate, Postaxial hand polydactyly, ... |
ORPHA:3378 |
| Tetrasomy 5P |
|
Respiratory distress, Recurrent respiratory infections, Overlapping toe, Posteriorly rotated ears... |
ORPHA:3309 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Recurrent respiratory infections, Osteopenia, Osteomyelitis, Recurrent... |
ORPHA:2314 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Barrel-shaped chest, Respiratory distress, Limited elbow movement, Hypoplasia of the odontoid pro... |
OMIM:183900 |
| Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Short stature, Abnormal pinna morpho... |
ORPHA:50815 |
| Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrota... |
ORPHA:93259 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Chromosomal breakage induced by crosslinking agents, Anemia... |
OMIM:616435 |
| Transcobalamin Deficiency |
|
Abnormality of chromosome stability, Pancytopenia, Neutropenia, Lymphopenia, Thrombocytopenia |
ORPHA:859 |
| 8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Thoracic scoliosis, Congenital hip dislocation, Single transverse palmar cr... |
ORPHA:508488 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Microretrognathia, Abnormal clavicle morphology, Abnormality of the philtrum, Abnormality of the ... |
ORPHA:276422 |
| Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
| Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... |
ORPHA:83451 |
| Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Joint dislocation, Hyperextensibility of the finger joints, Pes planus, Joint hypermobility, Hype... |
OMIM:130000 |
| Trisomy 8P |
|
Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Abnormal l... |
ORPHA:264450 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Pes planus, Arachnodactyly, Sandal gap, Dental crowding, Intestinal malrotation, Pectus excavatum... |
OMIM:617602 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of the knee, Posteriorly rotated ears, Micrognathia, Crowded maxillary incisors, Lowe... |
ORPHA:2063 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contracture, Hypop... |
OMIM:611717 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Posteriorly rotated ears, Micromelia, Micrognathia, Wide nasal bridge, ... |
OMIM:224410 |
| Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Toe syndactyly, Micrognathia, Split hand, Abnormality of the ear, Cleft palate, Split foot, Malar... |
OMIM:183700 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Short femur, Pneumothorax, Pulmonary hypoplasia, Talipes equinovarus, Short... |
OMIM:620306 |
| Dysostosis, Stanescu Type |
|
Bowing of the long bones, Persistent open anterior fontanelle, Wormian bones, Abnormal dental ena... |
ORPHA:1798 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Short palm, Respiratory distress, Ankle flexion contracture, Micrognathia, High, narrow palate, S... |
OMIM:608799 |
| Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Short stature, Abnormality of the mi... |
OMIM:609166 |
| Ophthalmomandibulomelic Dysplasia |
|
Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of j... |
ORPHA:2741 |
| Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple prenatal fractures, Severe gener... |
OMIM:259420 |
| Desbuquois Dysplasia 2 |
|
Dental crowding, Single transverse palmar crease, Metaphyseal widening, Pectus carinatum, Knee di... |
OMIM:615777 |
| Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Delayed closure of the anterior fontanelle, Carious teeth, Thin clavicles, Small ... |
OMIM:244460 |
| Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Deep philtrum, Everted lower lip vermilion, Long philtrum, Open mou... |
OMIM:137550 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow chest, Short p... |
OMIM:250220 |
| Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, C... |
ORPHA:2769 |
| Acromicric Dysplasia |
|
Short metacarpal, Narrow mouth, Deep philtrum, Thick lower lip vermilion, Cone-shaped epiphysis, ... |
OMIM:102370 |
| C1Q Deficiency 2 |
|
Atelectasis, Bronchiectasis, Oral ulcer, Arthritis, Recurrent otitis media, Recurrent lower respi... |
OMIM:620321 |
| Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Wormian bones, Recurrent fractures, Beaded ribs, Multiple ... |
OMIM:166210 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Paradoxical respiration, Absent Achilles reflex, Plantar flexion contractur... |
OMIM:620011 |
| Fanconi Anemia, Complementation Group S |
|
Chromosome breakage, Macrodontia, Short stature, Proximal placement of thumb, Dental malocclusion... |
OMIM:617883 |
| Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Wi... |
ORPHA:1278 |
| Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit... |
OMIM:617952 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Ground-glass opacification, Respiratory tract infection, Hypersensitivity pneumonitis, Nonproduct... |
ORPHA:79127 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal rib morphology, Slender long bone, Abnormal pelvic gi... |
ORPHA:1506 |
| Chondroectodermal Dysplasia With Night Blindness |
|
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormality of the knee, Abnormal dental... |
ORPHA:319195 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Long fibula, Short palm, Condu... |
ORPHA:2502 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Prominent metopic ridge, Tented upper lip vermilion, Apnea... |
ORPHA:314655 |
| White Forelock With Malformations |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Deep philtrum, Abnormal rib morphology, Joi... |
ORPHA:2475 |
| Tetramelic Monodactyly |
|
Split hand, Oligodactyly |
ORPHA:2564 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... |
ORPHA:60032 |
| Acrocephalopolydactyly |
|
Genu recurvatum, Short long bone, Microtia, Limb undergrowth, Short nose, Thoracic hypoplasia, Br... |
ORPHA:221054 |
| Fanconi Anemia, Complementation Group J |
|
Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
| Coffin-Lowry Syndrome |
|
Hypoplasia of the maxilla, Pectus carinatum, Protruding ear, High palate, Widely spaced teeth, Ad... |
ORPHA:192 |
| Acrorenal Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A... |
ORPHA:971 |
| Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Micrognathia, Conductive hearing impairment, Wide nasal bridge, Short foot, Microtia, High palate... |
OMIM:248910 |
| Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Cone-shaped epiphyses of the phalanges of the hand, Short 4t... |
ORPHA:420794 |
| Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Rib fusion, Short ribs, Sprengel a... |
OMIM:173800 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Hypo... |
ORPHA:93346 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal finger morphology, Abnormal lung lobation, Phocomelia, Microgastria, Aplastic clavicle, ... |
ORPHA:2538 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Ulnar bowing, Osteoarthritis, Flared metaphysis, Coxa vara, Tibial bow... |
OMIM:602111 |
| Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Triph... |
OMIM:154400 |
| Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Postaxial polydactyly, Conical tooth, Diastema, Hypoplasia of the maxill... |
OMIM:619142 |
| Chitayat Syndrome |
|
Hallux valgus, Recurrent respiratory infections, Respiratory distress, Pectus excavatum, Abnormal... |
OMIM:617180 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Enamel hypominera... |
OMIM:307800 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Thoracic kyphoscoliosis, Exaggerated median tongue furrow, Vertebral fusion, Dental crowding, 2-3... |
ORPHA:313892 |
| Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Abnormal distal phalanx morphology of finger, Abnormal oral mucosa morphol... |
ORPHA:2673 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Downturned corners of mouth, Advanced eruption of teeth, Prominence of the zygomatic bone, Conduc... |
ORPHA:2215 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 4th toe, Crowded maxillary inc... |
ORPHA:397973 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Equinovarus deformity, Meta... |
OMIM:224400 |
| Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... |
ORPHA:2378 |
| Pfeiffer Syndrome |
|
Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f... |
OMIM:101600 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Non-midline cleft lip, Abnormal femur morphol... |
ORPHA:3429 |
| 8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Abnormality of the dent... |
ORPHA:178303 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Micrognathia, Cleft palate, Thin ribs, Slender long bone, Decreased calvarial o... |
OMIM:618265 |
| Myhre Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short palm, Large iliac wing, Bifid uvula, Abno... |
ORPHA:2588 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Osteopenia, Death in infancy, Joint laxity, Sandal gap, Single transverse palmar crease, Microgna... |
OMIM:613177 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Thoracic kyphoscoliosis, Broad hallux, Arachnodactyly, Joint hypermobility, Hypoplasia of the max... |
ORPHA:481152 |
| Arthrogryposis, Distal, Type 2B1 |
|
Mandibular prognathia, Ulnar deviation of the wrist, Camptodactyly of finger, Rocker bottom foot,... |
OMIM:601680 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity,... |
ORPHA:457395 |
| Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Rhizomelia, Micrognathia, Abnormality of the humerus, Preaxial hand poly... |
ORPHA:3098 |
| Three M Syndrome 2 |
|
Delayed eruption of teeth, Scapular winging, Short thorax, Dental malocclusion, Pectus carinatum,... |
OMIM:612921 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Low-set, posteriorly rotated ears, Recurrent fractures, Micromelia, Abnormal rib morphology, Join... |
ORPHA:2772 |
| Xylt1-Cdg |
|
Joint dislocation, Pes planus, Joint laxity, Coxa valga, Flared metaphysis, Cleft palate, Short l... |
ORPHA:370930 |
| Charlie M Syndrome |
|
Finger syndactyly, Micrognathia, Narrow mouth, Non-midline cleft lip, Split hand, Wide nasal brid... |
ORPHA:1406 |
| Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Poste... |
OMIM:600325 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Micrognathia, Flexion contracture, Talipes calcaneovalgus, Knee flex... |
OMIM:265000 |
| Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Micrognathia, Deep philtrum, Osteoarthritis, Short metatarsal, Pectus carinatum, Prot... |
OMIM:190350 |
| Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Proximal placement of thumb, Micromelia, Micrognathia, High, nar... |
OMIM:122470 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Protruding ear, ... |
ORPHA:534 |
| Immunodeficiency 54 |
|
Chromosome breakage, Hepatomegaly, Splenomegaly, Lymphadenopathy, Reduced natural killer cell count |
OMIM:609981 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Coxa valga, Micrognathia, Abnormal bone ossification, Abnormality... |
ORPHA:163649 |
| Fragile X Syndrome |
|
Mandibular prognathia, Pectus excavatum, Folate-dependent fragile site at Xq28, Macrotia, Metacar... |
OMIM:300624 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Long nose, Hypoplasia of the primary te... |
OMIM:257850 |
| Cleft Palate-Large Ears-Small Head Syndrome |
|
Micrognathia, Pectus excavatum, Gingival overgrowth, Cleft palate, Ulnar deviation of finger, Pro... |
ORPHA:2013 |
| Radial-Renal Syndrome |
|
Chromosome breakage, Short stature, Absent thumb, Absent radius, External ear malformation |
OMIM:179280 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Thin upper lip vermilion, Death in infancy, Neonatal respiratory distress, ... |
OMIM:615042 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Micrognathia, Downturned corners of mouth, Glossoptosis, High palate, Aspiration pneumonia, Condu... |
ORPHA:444077 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Pes planus, Short femur, Dental crowding, Ta... |
OMIM:300990 |
| Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Sinusitis, Joint stiffness, Thick lower lip vermilion, Recurrent upper resp... |
ORPHA:583 |
| Pallister-Hall Syndrome |
|
Abnormal lung lobation, Bifid uvula, Microretrognathia, Mesoaxial polydactyly, Low-set, posterior... |
ORPHA:672 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Short humerus, Recurrent respiratory infections, Short femur, Apnea, Sensor... |
ORPHA:17 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... |
OMIM:618728 |
| Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Wrist flexion c... |
OMIM:268300 |
| Orofaciodigital Syndrome Type 4 |
|
Joint dislocation, Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate... |
ORPHA:2753 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Short stature, Short 3rd toe, Short 2nd toe, Short 5th finger, Short 4th toe, Short 5th toe, Chro... |
OMIM:619060 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Clubbing, ... |
OMIM:610913 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... |
OMIM:612576 |
| Pentasomy X |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Small hand, Wide nasal ... |
ORPHA:11 |
| Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the... |
ORPHA:193 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Bowed humerus, Anterior rib cupping, Short tubular bones of the hand, Tibi... |
OMIM:184253 |
| Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-glass opac... |
ORPHA:79126 |
| Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Abnormal dental enamel morphology, Elbow dislocation, Conductive hearing impairment, Aplasia/Hypo... |
ORPHA:3236 |
| Hypochondroplasia |
|
Brachydactyly, Aplasia/hypoplasia of the extremities, Flared metaphysis, Short long bone, Short f... |
OMIM:146000 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Recurrent respiratory infections, Tented upper lip vermilion, Overlapping t... |
OMIM:619383 |
| Spondylospinal Thoracic Dysostosis |
|
Multiple pterygia, Micrognathia, Hypoplasia of the maxilla, Short thorax, Pulmonary hypoplasia, A... |
OMIM:601809 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ... |
ORPHA:3472 |
| 48,Xxyy Syndrome |
|
Delayed eruption of teeth, Broad jaw, Recurrent respiratory infections, Pes planus, Apnea, Abnorm... |
ORPHA:10 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Respiratory distress, Rocker bottom foot, Wide nasal bridge, Low-set ears, Int... |
ORPHA:89844 |
| Achondrogenesis |
|
Micromelia, Micrognathia, Abnormal enchondral ossification, Short thorax, Aplasia/Hypoplasia of t... |
ORPHA:932 |
| Meier-Gorlin Syndrome 5 |
|
Prominent metopic ridge, Small earlobe, Micrognathia, Elbow dislocation, Hypoplasia of the maxill... |
OMIM:613805 |
| Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Bowing o... |
OMIM:613849 |
| Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Clubbing, ... |
ORPHA:60033 |
| Blomstrand Lethal Chondrodysplasia |
|
Micrognathia, Narrow chest, Distal shortening of limbs, Short metacarpal, Increased bone mineral ... |
ORPHA:50945 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Recurrent respiratory infections, Missing ribs, Short thorax, Abnormal rib morphology, Wide nasal... |
ORPHA:1797 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Alveola... |
ORPHA:2972 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Pseudoleprechaunism Syndrome, Patterson Type |
|
Abnormal limb epiphysis morphology, Metaphyseal sclerosis, Macrotia, Flat acetabular roof, Genu v... |
ORPHA:2976 |
| Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Broad long bones, Abnormal metatarsal morphology, Pectus excavatum, Narrow philtrum, Short thorax... |
ORPHA:163654 |
| Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Abnormal dental enamel ... |
ORPHA:2050 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Low-set, posteriorly rotated ears, Small hypothenar eminence, Contracture of the proximal interph... |
ORPHA:2872 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
| Opsismodysplasia |
|
Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Short metacarpal... |
OMIM:258480 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion con... |
OMIM:271640 |
| Isolated Osteopoikilosis |
|
Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ... |
ORPHA:166119 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Hypoplasia of the maxilla, Respiratory insufficiency, Abnormal metacarpal morphology, Conductive ... |
ORPHA:93262 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormal dental morphology, Abnormal morphology of ulna, Abnormality of the dentition, Abnormal f... |
ORPHA:1837 |
| Acromesomelic Dysplasia 1 |
|
Joint laxity, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the rad... |
OMIM:602875 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Syndactyly, Neonatal respiratory distress, Abnormal pinna morphology, Proxi... |
OMIM:217980 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Micromelia, Micrognathia, Long nose, Abnormal finger morphology, Short palm, Large il... |
ORPHA:2636 |
| Acromesomelic Dysplasia 4 |
|
Mandibular prognathia, Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum,... |
OMIM:619636 |
| Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Sensorineural hearing impairment, Split hand, Absent hand, Oligodactyly |
ORPHA:2440 |
| Geroderma Osteodysplasticum |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Osteopenia, Recurrent fractures, ... |
OMIM:231070 |
| Fanconi Anemia, Complementation Group V |
|
Thrombocytopenia, Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellularit... |
OMIM:617243 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Hypoplasia of the odontoid p... |
OMIM:609813 |
| Meconium Aspiration Syndrome |
|
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Atelectasis, Neonatal asphyxia... |
ORPHA:70588 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Abnormal dental morphology, Micrognathia, Pectus excavatum, Malar p... |
ORPHA:2522 |
| Distal Xq28 Microduplication Syndrome |
|
Short lingual frenulum, Dental crowding, Epistaxis, Metatarsus adductus, Hypoplasia of the maxill... |
ORPHA:293939 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu... |
OMIM:119800 |
| Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Mandibular prognathia, Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia |
ORPHA:2252 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Joint laxity, Hyperextensibility of the finger joints, Thin upper lip vermilion, Dental crowding,... |
OMIM:309520 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Calcific stippling of infantile cartilaginous skeleton, Rhizomelia, Micrognathia, Sensorineural h... |
OMIM:215100 |
| Fanconi Anemia, Complementation Group D1 |
|
Short stature, Short thumb, Chromosomal breakage induced by crosslinking agents, Intrauterine gro... |
OMIM:605724 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, High palate, Na... |
OMIM:213980 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Ulnar deviation of the hand, Posteriorly rotated ears, Micrognathia, Metaphyseal widening, Flexio... |
OMIM:263210 |
| Zechi-Ceide Syndrome |
|
Mandibular prognathia, Sandal gap, Cleft lip, Short metatarsal, Wide nasal bridge, Cleft palate, ... |
ORPHA:217017 |
| Fanconi Anemia |
|
Micrognathia, Abnormal femur morphology, Reduced bone mineral density, High palate, Triphalangeal... |
ORPHA:84 |
| Sheldon-Hall Syndrome |
|
Ulnar deviation of the wrist, Tarsal synostosis, Bilateral single transverse palmar creases, Micr... |
ORPHA:1147 |
| Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
| Stickler Syndrome, Type Ii |
|
Arthropathy, Arachnodactyly, Micrognathia, Long fingers, High, narrow palate, Pierre-Robin sequen... |
OMIM:604841 |
| Familial Nasal Acilia |
|
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
| Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi... |
OMIM:225500 |
| 2Q32Q33 Microdeletion Syndrome |
|
Broad hallux phalanx, Arachnodactyly, Dental crowding, Micrognathia, Narrow mouth, Cleft palate, ... |
ORPHA:251019 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Dental crowding, Joint hypermobility, Joint stiffness, Long nose, Tracheobronch... |
OMIM:619184 |
| Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Micromelia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Narrow chest,... |
OMIM:610682 |
| Autosomal Recessive Amelia |
|
Micrognathia, Non-midline cleft lip, Orofacial cleft, Aplasia/Hypoplasia of the lungs, Amelia inv... |
ORPHA:1027 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Bifid uvula, Joint laxity, Tapered finger, Wide nasal bridge, Low-set ears,... |
OMIM:300968 |
| Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abn... |
ORPHA:1427 |
| Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
| Wt Limb-Blood Syndrome |
|
Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Sensorineural hearing... |
OMIM:194350 |
| Cornelia De Lange Syndrome |
|
Proximal placement of thumb, Micromelia, Micrognathia, Downturned corners of mouth, Widely spaced... |
ORPHA:199 |
| Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Triphalangeal thumb, Conductive hearing impairment, Clinodactyly of th... |
ORPHA:794 |
| Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... |
ORPHA:2347 |
| Hypophosphatasia, Infantile |
|
Recurrent respiratory infections, Death in infancy, Apnea, Micromelia, Bowing of the legs, Abnorm... |
OMIM:241500 |
| Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
| Seckel Syndrome 5 |
|
11 pairs of ribs, Pes planus, Selective tooth agenesis, Micrognathia, Cleft palate, Oligodontia, ... |
OMIM:613823 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Missing ribs, Micrognathia, Abnormal rib morphology, Abnormal lung... |
ORPHA:3301 |
| Acromelic Frontonasal Dysostosis |
|
Syndactyly, Cleft upper lip, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia... |
OMIM:603671 |
| Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
| Fanconi Anemia, Complementation Group B |
|
Death in infancy, Abnormality of chromosome stability, Absent thumb, Esophageal atresia, Patent d... |
OMIM:300514 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Joint dislocation, Osteomalacia, Premature loss of primary teeth, Abnormality of the dentition, R... |
ORPHA:93160 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Joint dislocation, Osteopenia, Osteomalacia, Coxa valga, Avascular necrosis of the capital femora... |
ORPHA:1901 |
| Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Respiratory distress, Micromelia, Adducted thumb, Long philtrum, Short nose, Bi... |
ORPHA:50810 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Aplasia/Hypoplasia of the... |
OMIM:113000 |
| Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Proximal placement of thumb, Micrognathia, Preaxial hand polydactyly, Deep ... |
OMIM:610536 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Bilateral single transverse palmar creases, Abnormal morphology of ulna, Tarsa... |
ORPHA:2633 |
| Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract... |
ORPHA:3103 |
| Oculofaciocardiodental Syndrome |
|
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio... |
ORPHA:2712 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Cupped ear, Hand monodacty... |
OMIM:119100 |
| Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
| Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Overlapping toe, Camptodactyly of finger, Down-sloping shoulders, Sin... |
OMIM:114300 |
| Mosaic Trisomy 8 |
|
Abnormal pinna morphology, Camptodactyly of finger, Micrognathia, Patellar aplasia, Abnormal rib ... |
ORPHA:96061 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormal pulmonary thoracic imaging finding, Crackles, Atelectasis, Hypersensitivity pneumonitis,... |
ORPHA:2902 |
| Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Neonatal respiratory distress, Anterior rib cupping, Metaphyseal sclerosis,... |
OMIM:260400 |
| Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Broad hallux, Intestinal malrotation, Posteriorly rotated ears, Micrognathia, Carious... |
OMIM:613684 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... |
OMIM:267450 |
| Occipital Horn Syndrome |
|
Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Pectus carinatum, Narrow chest, Short ... |
ORPHA:198 |
| Campomelia, Cumming Type |
|
Death in infancy, Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Abnormal t... |
ORPHA:1318 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Abnormal pinna morphology, Limitation of joint mobility, Abnormal rib ... |
ORPHA:3068 |
| Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrota... |
ORPHA:93260 |
| Agnathia-Otocephaly Complex |
|
Respiratory distress, Tracheomalacia, Micrognathia, Conductive hearing impairment, Aglossia, Clef... |
OMIM:202650 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys... |
ORPHA:93316 |
| Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f... |
OMIM:619773 |
| Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Abnormal thorax morphology, Tachypnea, Nasal... |
ORPHA:70587 |
| Ulnar-Mammary Syndrome |
|
Abnormal morphology of the radius, Abnormal clavicle morphology, Camptodactyly of finger, Abnorma... |
ORPHA:3138 |
| Braddock Syndrome |
|
Neonatal respiratory distress, Posteriorly rotated ears, Micrognathia, Pectus excavatum, Preaxial... |
ORPHA:52047 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Microretrognathia, Finger syndactyly, Low-set, posteriorly rotated ears, Arachnodactyly, Camptoda... |
ORPHA:2994 |
| 6Q25 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal pinna morphology, Camptodactyly of finger, Rocker bot... |
ORPHA:251056 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Abnormal cortical bone morphology, Wide nasal bridge, Delayed closu... |
OMIM:614886 |
| Isolated Klippel-Feil Syndrome |
|
Abnormal rib morphology, Cleft palate, Abnormal shoulder morphology, Ectopic anus, Cervical C2/C3... |
ORPHA:2345 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Osteopenia, Respiratory distress, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot,... |
OMIM:271225 |
| Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Micrognathia, Orofacial cleft, Pectus carinatum, Downturned corners o... |
ORPHA:1507 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Multiple pterygia, Micrognathia, Symphalangism affecting the phalanges of the hand, Orofacial cle... |
ORPHA:2990 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Low-set, posteriorly rotated ears, Camptodacty... |
ORPHA:2311 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
| Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
11 pairs of ribs, Hip contracture, Pursed lips, Neonatal respiratory distress, Micrognathia, Meta... |
OMIM:616266 |
| Distal Deletion 10P |
|
Low-set, posteriorly rotated ears, Hearing impairment, Micrognathia, Joint stiffness, Hearing abn... |
ORPHA:1580 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Micrognathia, Small hand, Short foot, High palate, Short philtrum, Recurrent otitis media, Intrau... |
ORPHA:254531 |
| Abruzzo-Erickson Syndrome |
|
Toe syndactyly, Short toe, Sensorineural hearing impairment, Cleft palate, Ulnar deviation of fin... |
ORPHA:921 |
| Schwartz-Jampel Syndrome |
|
Apnea, Micromelia, Micrognathia, Coxa vara, Pectus carinatum, High palate, Wrist flexion contract... |
ORPHA:800 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Multiple joint contractures, Camptodactyly of finger, Abnormal pleura morphology, Micrognathia, L... |
ORPHA:2570 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Metaphyseal chondrodysplasi... |
ORPHA:93317 |
| Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Increased susceptibility to spontaneous sister chromatid exchange |
OMIM:618097 |
| Deafness, Conductive, With Malformed External Ear |
|
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... |
OMIM:221300 |
| Anauxetic Dysplasia 3 |
|
Recurrent respiratory infections, Short metacarpal, Thoracolumbar kyphoscoliosis, Joint hypermobi... |
OMIM:618853 |
| Myhre Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac wing, Broad r... |
OMIM:139210 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Arachnodactyly, Long foot, Micrognathia, High, narrow palate, Dyspnea, Wide... |
ORPHA:2707 |
| Short Stature, Dauber-Argente Type |
|
Long toe, Delayed eruption of teeth, Osteopenia, Arachnodactyly, Decreased fibular diameter, Long... |
OMIM:619489 |
| Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Micrognathia, Absent stapes he... |
OMIM:128980 |
| Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
| Ciliary Dyskinesia, Primary, 1 |
|
Nasal polyposis, Pneumonia, Absent frontal sinuses, Atelectasis, Absent outer dynein arms, Bronch... |
OMIM:244400 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Edema of the dorsum of feet, Tapered finger, Sensorineural hearing impairme... |
ORPHA:544503 |
| Fanconi Anemia, Complementation Group U |
|
Chromosome breakage, Absent thumb, Absent radius, Patent ductus arteriosus, Hypoplasia of the rad... |
OMIM:617247 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met... |
ORPHA:93314 |
| Achondroplasia |
|
Rhizomelia, Thoracic hypoplasia, Hearing impairment, Hip joint hypermobility, Bowing of the legs,... |
ORPHA:15 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Thin upper lip vermilion, Radial bowing, Thoracic hypoplasia, Postaxial polydactyly, Missing ribs... |
OMIM:617866 |
| Cat-Eye Syndrome |
|
Abnormal rib morphology, Hip dysplasia, Intrauterine growth retardation, Anal atresia, Hearing im... |
ORPHA:195 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hallux valgus, Hypoplastic scapulae, Camptodactyly of finger, Long fingers, Macrotia, Thick lower... |
OMIM:256040 |
| Schinzel-Giedion Syndrome |
|
Respiratory distress, Abnormal clavicle morphology, Micrognathia, Abnormality of the gingiva, Tib... |
ORPHA:798 |
| Marshall Syndrome |
|
Abnormality of the dentition, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Thick lowe... |
ORPHA:560 |
| Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Flexion contracture, Reduced bone mineral density, Aspiration pneum... |
ORPHA:581 |
| Synaptic Congenital Myasthenic Syndromes |
|
Mandibular prognathia, Abnormality of the knee, Scapular winging, Respiratory distress, Hypoventi... |
ORPHA:98915 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s... |
ORPHA:1275 |
| Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Osteopenia, Short metacarpal, Radial bowing, Joint laxity, Recurrent fractur... |
OMIM:610915 |
| Bone Marrow Failure Syndrome 3 |
|
Metaphyseal dysplasia, Chromosome breakage, Congenital hip dislocation, Short stature, Hearing im... |
OMIM:617052 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Micrognathia, Joint stiffness, High, narrow palate, Abnormal lung lobation, Cleft palate, Intraut... |
ORPHA:2516 |
| Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Short palm, Pes planus, Tapered finger, Carious teeth, Narrow mouth, Micrognathia, Trismus, Elbow... |
OMIM:272430 |
| Keutel Syndrome |
|
Sinusitis, Deep philtrum, Pulmonary artery hypoplasia, Emphysema, Short hallux, Premature fusion ... |
OMIM:245150 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Delayed eruption of teeth, Mandibular prognathia, Short metacarpal, Brachydactyly, Hearing impair... |
OMIM:101800 |
| Zechi-Ceide Syndrome |
|
Sandal gap, Cleft upper lip, Short metatarsal, Wide nasal bridge, Cleft palate, Oligodontia, Mala... |
OMIM:612916 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Bowing of the long bones, Micrognathia, Metaphyseal chondrodysplasia... |
OMIM:156400 |
| Charge Syndrome |
|
Abnormal palmar dermatoglyphics, Micrognathia, Hand monodactyly, Pulmonary artery atresia, Hypopl... |
OMIM:214800 |
| Microcephaly-Capillary Malformation Syndrome |
|
Hearing impairment, Hypoplasia of the maxilla, Cleft palate, Low-set ears, Clinodactyly, Short di... |
OMIM:614261 |
| Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Ground-glass opacif... |
OMIM:619611 |
| Microtriplication 11Q24.1 |
|
Joint dislocation, Attached earlobe, Posteriorly rotated ears, Metatarsus adductus, Limitation of... |
ORPHA:289522 |
| Pleural Mesothelioma |
|
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal thorax morphology, Abnormal l... |
ORPHA:50251 |
| Autosomal Recessive Stickler Syndrome |
|
Epiphyseal dysplasia, Micrognathia, Sensorineural hearing impairment, Cleft palate, Genu valgum, ... |
ORPHA:250984 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Long palm, Pectus excavatum, Hypoplasia of the maxilla, Pectus carinatum, ... |
OMIM:300676 |
| Lowry-Maclean Syndrome |
|
Osteopenia, Single transverse palmar crease, Delayed eruption of primary teeth, Micrognathia, Hyp... |
ORPHA:2409 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Wormian bones... |
ORPHA:166277 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Recurrent fractures... |
OMIM:300554 |
| Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Median cleft lip, Sensorineural hearing impairment, Split hand, 2-3 toe syndactyl... |
DECIPHER:46 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Small hypothenar eminence, Arachnodactyly, Joint hypermobility, Thenar muscle atrophy... |
ORPHA:2463 |
| Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
| Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... |
OMIM:616367 |
| Sclerosteosis 1 |
|
Mandibular prognathia, Syndactyly, Sclerotic scapulae, Broad clavicles, Malar flattening, 2-3 fin... |
OMIM:269500 |
| Neu-Laxova Syndrome |
|
Osteopenia, Micromelia, Micrognathia, Flexion contracture, Pterygium, Bifid uvula, Osteomalacia, ... |
ORPHA:2671 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Lateral clavicle hook, Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of the ... |
OMIM:615630 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Lateral clavicle hook, Preaxial polydactyly, Femoral bowing, S... |
OMIM:615503 |
| Nablus Mask-Like Facial Syndrome |
|
Single transverse palmar crease, Hypoplasia of the maxilla, Clinodactyly, High palate, Small earl... |
OMIM:608156 |
| Kbg Syndrome |
|
Thin upper lip vermilion, Persistent open anterior fontanelle, Vertebral fusion, Macrodontia, Sin... |
ORPHA:2332 |
| Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla, Short distal phalanx of finger |
OMIM:300266 |
| Restrictive Dermopathy 2 |
|
Microretrognathia, Respiratory distress, Rectal prolapse, Hypoplastic facial bones, Overtubulated... |
OMIM:619793 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Posteriorly rotated ears, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Adducted thu... |
OMIM:610758 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Epiphyseal dysplasia, Enlarged epiphyses, Sensorineural hearing impairment, Pierre-Robin sequence... |
OMIM:184840 |
| Marshall Syndrome |
|
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... |
OMIM:154780 |
| Auriculocondylar Syndrome |
|
Respiratory distress, Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, M... |
ORPHA:137888 |
| Fanconi Anemia, Complementation Group L |
|
Chromosome breakage, Absent thumb, Absent radius, Esophageal atresia, Chromosomal breakage induce... |
OMIM:614083 |
| Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Micrognathia, Asthma, Pne... |
ORPHA:2257 |
| Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema |
|
Diastema, Hypoplasia of the radius, Nonopposable triphalangeal thumb |
OMIM:179250 |
| Mosaic Trisomy 16 |
|
Syndactyly, Abnormal ear morphology, Single transverse palmar crease, Short thumb, Abnormal thora... |
ORPHA:1708 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Limb joint contracture, Micrognathia, Abnormal foot morphology, Flexion contracture, 2-3 toe synd... |
OMIM:618186 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Coxa vara, Pectus carinatum, Clinodactyly of the 5th finger, Vertebral fusion, Short metacarpal, ... |
OMIM:272460 |
| Raine Syndrome |
|
Mandibular prognathia, Micromelia, Micrognathia, Protruding ear, High palate, Neonatal death, Mic... |
OMIM:259775 |
| Bronchogenic Cyst |
|
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... |
ORPHA:2357 |
| Rapadilino Syndrome |
|
Joint dislocation, Aplasia/Hypoplasia of the patella, Absent thumb, High, narrow palate, Cleft pa... |
OMIM:266280 |
| Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Abnormality of the philtrum, Camptodactyly of finger, Recurrent fractures, Microg... |
ORPHA:3409 |
| Cutis Laxa-Marfanoid Syndrome |
|
Arachnodactyly, Flexion contracture, Limitation of joint mobility, Hip dislocation, Emphysema |
ORPHA:171719 |
| Abruzzo-Erickson Syndrome |
|
Short stature, Cleft palate, Protruding ear, Radioulnar synostosis, Macrotia, Hearing impairment |
OMIM:302905 |
| Mucolipidosis Iii Alpha/Beta |
|
Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregula... |
OMIM:252600 |
| Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... |
OMIM:187760 |
| Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia... |
ORPHA:40366 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Micrognathia, Joint stiffness, Cleft palate, Protruding ear, Respiratory insufficiency, Tooth age... |
ORPHA:1166 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon... |
OMIM:605282 |
| Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... |
ORPHA:1826 |
| Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Joint stiffness, Hypoplasia of the maxilla, Broad palm, Narrow palate, Broad ph... |
OMIM:277600 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Micromelia, Bowing of the legs, Micrognathia, Metaphyseal widening, D... |
OMIM:255800 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Micrognathia |
OMIM:300580 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Intestinal malrotation, Genu valgum, Wide mouth, Microtia, Joint hypermobility, Duod... |
OMIM:617798 |
| Dysspondyloenchondromatosis |
|
Joint dislocation, Enlarged joints, Lower limb asymmetry, Osteoarthritis, Generalized joint laxit... |
ORPHA:85198 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Osteopenia, Thin upper lip vermilion, Recurrent respiratory infections, Respiratory distress, Mic... |
ORPHA:329178 |
| Fetal Akinesia Deformation Sequence 1 |
|
Elbow contracture, Micrognathia, High, narrow palate, Congenital contracture, High palate, Wrist ... |
OMIM:208150 |
| 48,Xxxy Syndrome |
|
Mandibular prognathia, Pulmonary embolism, Clinodactyly of the 5th finger, Chronic otitis media, ... |
ORPHA:96263 |
| Severe Congenital Nemaline Myopathy |
|
Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Thin ribs, Respirat... |
ORPHA:171430 |
| Choanal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Craniosynostosis, Upper airway obstructio... |
ORPHA:137914 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Joint dislocation, Osteopenia, Genu recurvatum, Single transverse palmar crease, Micrognathia, Fl... |
OMIM:130070 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Increased bone mineral density, Posteriorly rotated ears, Micrognathia... |
ORPHA:2780 |
| Stüve-Wiedemann Syndrome |
|
Osteopenia, Respiratory distress, Apnea, Micromelia, Metaphyseal widening, Flexion contracture, K... |
ORPHA:3206 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
| Distal Duplication 18Q |
|
Low-set, posteriorly rotated ears, Arachnodactyly, Camptodactyly of finger, Abnormal dental morph... |
ORPHA:1716 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Conductive hearin... |
ORPHA:199306 |
| Hydrolethalus Syndrome 1 |
|
Median cleft lip, Abnormal pinna morphology, Micrognathia, Preaxial hand polydactyly, Postaxial h... |
OMIM:236680 |
| Interstitial Lung Disease 2 |
|
Dyspnea, Clubbing of fingers, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neut... |
OMIM:178500 |
| 46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Hypoplasia of the premaxilla, Micrognathia, Deformed humerus, Mandibular condyle hypoplasia, Disl... |
ORPHA:2975 |
| Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Talipes, Hearing impairment, Aplasia/Hypoplasia of... |
ORPHA:1647 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Irregular, rachitic-like metaphyses, Abnormal foot morphology, Hypoplasia of the... |
OMIM:184252 |
| Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... |
ORPHA:485 |
| Apert Syndrome |
|
Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Ma... |
ORPHA:87 |
| Tetraploidy |
|
Micrognathia, Radial club hand, Cleft palate, Aplasia/Hypoplasia of the lungs, Short philtrum, Hy... |
ORPHA:3305 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Micrognathia, Cleft upper lip, Abnormal rib morphology, Cleft palate, Conductive hearing impairme... |
OMIM:601076 |
| Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Thin bony cortex, Thickened helices, Joint stiffness, Hypoplasia of the maxilla... |
OMIM:608328 |
| Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Joint hyp... |
OMIM:614856 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress, Limitation of joint mobility |
ORPHA:2680 |
| Temple Syndrome |
|
Posteriorly rotated ears, Micrognathia, Flexion contracture, Small hand, Cleft palate, Short foot... |
OMIM:616222 |
| Fanconi Anemia, Complementation Group Q |
|
Chromosome breakage, Short stature, Absent thumb, Esophageal atresia, Anteriorly placed anus, Gro... |
OMIM:615272 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Micrognathia, Wide nasal bridge, Thin vermilion border, Short philtrum, Int... |
ORPHA:261304 |
| Arterial Tortuosity Syndrome |
|
Respiratory distress, Coxa vara, Clinodactyly of the 5th finger, Arachnodactyly, Hiatus hernia, P... |
ORPHA:3342 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Micrognathia, Multiple joint dislocation, Pectus carinatum, Knee dislocation, Shoulde... |
OMIM:245600 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Micromelia, Delayed epiphyseal ossification, Flared metaphysis, Vertebral hypoplasi... |
OMIM:602557 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Overlapping toe, Arachnodactyly, Micrognathia, Metatarsus adductus, Short thumb, High, narrow pal... |
ORPHA:436003 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Recurrent respiratory infections, Bowing of the long bones, Apnea, Rec... |
ORPHA:667 |
| Trisomy 1Q |
|
Microretrognathia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydac... |
ORPHA:261344 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Lip pit, Micrognathia, Joint stiffne... |
ORPHA:1300 |
| Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Micrognathia, Downturned corners of mouth, High palate, Clinodactyly of the... |
ORPHA:177907 |
| Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Micromelia, Micrognathia, Abnormal tibia morphology, Ost... |
ORPHA:666 |
| Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Prominent metopic ridge, Dental crowding, Posteriorly rotated ears, Mi... |
ORPHA:2789 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Osteomalacia, Bowing of the legs, Reduced bone mineral density, Hypophosphatemic rickets, Patholo... |
ORPHA:157215 |
| Skraban-Deardorff Syndrome |
|
Micrognathia, Absent cupid's bow, Cleft palate, Widely spaced teeth, Recurrent otitis media, Pes ... |
OMIM:617616 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Pectus excavatum, Recurrent bronchopulmon... |
OMIM:617303 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Joint laxity, Overlapping toe, Single transverse palmar crease, Exaggerated cupid's bow... |
ORPHA:254528 |
| Acrootoocular Syndrome |
|
Abnormal finger flexion crease, Decreased palmar creases, Micrognathia, High, narrow palate, Cond... |
ORPHA:2980 |
| Mosaic Trisomy 1 |
|
Thoracic scoliosis, Single transverse palmar crease, Orofacial cleft, Finger clinodactyly, Pulmon... |
ORPHA:1692 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e... |
ORPHA:93284 |
| Stickler Syndrome |
|
Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Pectus carinatum, Red... |
ORPHA:828 |
| Joubert Syndrome 18 |
|
Joint laxity, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Cleft palate, Lobu... |
OMIM:614815 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Calvarial osteoscleros... |
OMIM:616331 |
| Coffin-Siris Syndrome 6 |
|
Posteriorly rotated ears, Micrognathia, Pectus excavatum, High, narrow palate, Deep philtrum, Con... |
OMIM:617808 |
| Branchiootic Syndrome |
|
Branchial fistula, Lip pit, Micrognathia, Sensorineural hearing impairment, Abnormality of the in... |
ORPHA:52429 |
| Zttk Syndrome |
|
Unilateral lung agenesis, Hypoplasia of the maxilla, Flexion contracture, Protruding ear, Downtur... |
OMIM:617140 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
| 7Q31 Microdeletion Syndrome |
|
Recurrent respiratory infections, Hypoplasia of the maxilla, Hypoplasia of the cochlea, Asthma, C... |
ORPHA:251061 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Meckel diverticulum, Posteriorly rotated ears, Episodic tachypnea, Micrognathia, Apneic episodes ... |
ORPHA:163961 |
| Congenital Myopathy 17 |
|
Mandibular prognathia, Tented upper lip vermilion, Overlapping toe, Tapered finger, Pectus excava... |
OMIM:618975 |
| 22Q11.2 Deletion Syndrome |
|
Micrognathia, Abnormal lung lobation, Short philtrum, Conductive hearing impairment, Chronic otit... |
ORPHA:567 |
| Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Missing ribs, Micrognathia, Abnormal rib morphology, Tracheoesophageal f... |
ORPHA:1834 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Single transverse palmar crease, Coxa vara, Pectus carinatum, Clinodactyly of the 5th finger, Syn... |
OMIM:614701 |
| 49,Xxxxy Syndrome |
|
Mandibular prognathia, Pulmonary embolism, Clinodactyly of the 5th finger, Chronic otitis media, ... |
ORPHA:96264 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Mandibular prognathia, Chronic gastritis, Osteopenia, Single transverse palmar crease, Micrognath... |
OMIM:150230 |
| Trichorhinophalangeal Syndrome Type 1 |
|
Short metacarpal, Camptodactyly of finger, Abnormality of the dentition, Avascular necrosis of th... |
ORPHA:77258 |
| Becker Nevus Syndrome |
|
Micromelia, Lower limb asymmetry, Pectus excavatum, Abnormal tibia morphology, Rib fusion, Upper ... |
ORPHA:64755 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplasia... |
ORPHA:94066 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Single transverse palmar crease, 2-3 toe syndactyly, Cutaneous syndactyly, Sti... |
OMIM:236500 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Respiratory distress, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebra... |
OMIM:612852 |
| Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... |
ORPHA:3003 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Micrognathia, Pyloric stenosis, Small hand, Cleft palate, Short foot, High palate, Short philtrum... |
ORPHA:96184 |
| Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Hyperplasia of the maxilla |
OMIM:618383 |
| Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Osteoporosis, Wide nasal bridg... |
ORPHA:1517 |
| Hamel Cerebro-Palato-Cardiac Syndrome |
|
Death in infancy, Arachnodactyly, Short stature, Micrognathia, Cupped ear, Cleft palate, Narrow m... |
ORPHA:93946 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Mandibular prognathia, Death in infancy, Thoracic scoliosis, Respiratory distress, Knee contractu... |
OMIM:620278 |
| Glutamine Deficiency, Congenital |
|
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Micromelia, Flexion contr... |
OMIM:610015 |
| Andersen-Tawil Syndrome |
|
Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence... |
ORPHA:37553 |
| Fanconi Anemia, Complementation Group R |
|
Radial dysplasia, Absent thumb, Chromosomal breakage induced by crosslinking agents, Agenesis of ... |
OMIM:617244 |
| Hemifacial Microsomia With Radial Defects |
|
Non-midline cleft lip, Cleft palate, Orofacial cleft, Microtia, Atresia of the external auditory ... |
OMIM:141400 |
| Trisomy 8Q |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Micrognathia, Joint stiffness, Non-mi... |
ORPHA:1752 |
| Cerebrofacioarticular Syndrome |
|
Osteopenia, Irregular dentition, Syndactyly, Anal stenosis, Micrognathia, Hypoplasia of the maxil... |
ORPHA:314679 |
| Al-Gazali Syndrome |
|
Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Micrognathia, Re... |
OMIM:609465 |
| Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, S... |
OMIM:234100 |
| Radial Ray Hypoplasia With Choanal Atresia |
|
Short thumb, Distally placed thumb, Hypoplasia of the radius, Small thenar eminence |
OMIM:179270 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Low-set, posteriorly rotated ears, Intestinal malrotation, Hypoplasia of the premaxilla, Microgna... |
ORPHA:2166 |
| Auriculocondylar Syndrome 1 |
|
Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Apnea, Micrognath... |
OMIM:602483 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Everted upper lip vermilion, Apnea, Micrognathia, Short nose, Microtia, Eve... |
OMIM:608013 |
| Ivic Syndrome |
|
Aplastic clavicle, Joint stiffness, Hearing impairment, Preaxial hand polydactyly, Short thumb, H... |
ORPHA:2307 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Pectus excavatum, Hi... |
ORPHA:957 |
| Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Short mandibular condyles, Hypoplasia of the maxilla, Ulnar radial head dislocation |
OMIM:264270 |
| Chand Syndrome |
|
Short fifth metatarsal, Atelectasis, Cleft palate, Agenesis of permanent teeth, Abnormal oral fre... |
ORPHA:1401 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Postaxial... |
OMIM:617088 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Thin upper lip vermilion, Crackles, Ground-glass opacification, Atelectasis, Dyspnea, Asthma, Whe... |
OMIM:620233 |
| Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Aplasia/Hypoplasia of the patella, Mal... |
ORPHA:1225 |
| Doors Syndrome |
|
Respiratory distress, Short lingual frenulum, Abnormal finger morphology, Downturned corners of m... |
ORPHA:79500 |
| Hartsfield Syndrome |
|
Low-set, posteriorly rotated ears, Craniosynostosis, Non-midline cleft lip, Split hand, Cleft pal... |
ORPHA:2117 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Micrognathia, Hypoplasia of the maxilla, Macrotia, Cleft palate, Femoral bowing, Anotia, Microtia... |
OMIM:616462 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Abnormal pinna morphology, Rocker bottom foot, Equinovarus deformity,... |
ORPHA:3078 |
| Tetramelic Monodactyly |
|
Split foot, Split hand, Foot monodactyly, Hand monodactyly |
OMIM:187510 |
| Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Abnormality of the ear, Downturned corners of mouth, Hypoplastic vertebral bodies, Sh... |
ORPHA:3455 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Micrognathia, Wrist swelling, Limitation of joint mobility, Wide nasal b... |
ORPHA:2774 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Postaxial hand polydactyly, Abnormal rib morphology, Pulmonary arterial hyp... |
ORPHA:2519 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Microretrognathia, Recurrent respiratory infections, Joint laxity, Congenital hip dislocation, Su... |
ORPHA:98914 |
| Congenital Myasthenic Syndrome |
|
Microretrognathia, Recurrent respiratory infections, Joint laxity, Congenital hip dislocation, Su... |
ORPHA:590 |
| Weismann-Netter Syndrome |
|
Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Delayed erup... |
OMIM:112350 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Abnormal foot morphology, Oligodontia, A... |
ORPHA:2095 |
| Bent Bone Dysplasia Syndrome 1 |
|
Bent long bone, Natal tooth, Micrognathia, Hypoplastic pubic bone, Gingival overgrowth, Bell-shap... |
OMIM:614592 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Natal tooth, Overfolding of the superior helices, Hypoplastic ischia, Bowing of the l... |
ORPHA:313855 |
| Marden-Walker Syndrome |
|
Arachnodactyly, Micrognathia, High, narrow palate, Narrow mouth, Pyloric stenosis, Cleft palate, ... |
OMIM:248700 |
| Hurler Syndrome |
|
Abnormal clavicle morphology, Recurrent respiratory infections, Death in infancy, Camptodactyly o... |
ORPHA:93473 |
| C Syndrome |
|
Micromelia, Micrognathia, Clinodactyly, High palate, Dislocated radial head, Short metacarpal, Ac... |
OMIM:211750 |
| Prune Belly Syndrome |
|
Recurrent respiratory infections, Congenital hip dislocation, Intestinal malrotation, Pectus exca... |
ORPHA:2970 |
| Fanconi Anemia, Complementation Group P |
|
Short stature, Absent thumb, Micrognathia, Short thumb, Hypoplasia of the radius, Growth delay, C... |
OMIM:613951 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Mandibular prognathia, Osteopenia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal o... |
OMIM:616007 |
| Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Vertebral fusion, Odontogenic keratocysts of the jaw, Down-sloping shoulde... |
OMIM:109400 |
| Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Flexion contracture, Pectus carinatum, Narrow greater sciatic notch, Widely space... |
OMIM:253220 |
| Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Pectus carinatum, Reduce... |
ORPHA:2911 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Hypoplasia of the radius, Rectal atresia, Perineal fistula, Ectrodactyly, Rectovaginal fistula, A... |
ORPHA:3016 |
| Arboleda-Tham Syndrome |
|
Mandibular prognathia, Respiratory distress, Anteverted ears, Downturned corners of mouth, Long t... |
OMIM:616268 |
| Fragile X Syndrome |
|
Mandibular prognathia, Sinusitis, Protruding ear, Folate-dependent fragile site at Xq28, Otitis m... |
ORPHA:908 |
| Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Long nose, Abnormal rib morphology, Low-set ears, Macrotia, Peripheral pu... |
OMIM:118450 |
| Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... |
ORPHA:2492 |
| Laron Syndrome |
|
Limb undergrowth, Abnormal joint morphology, Short long bone |
OMIM:262500 |
| Cog1-Cdg |
|
Osteopenia, Thin upper lip vermilion, Low-set, posteriorly rotated ears, Rhizomelia, Coxa valga, ... |
ORPHA:263508 |
| Gm1 Gangliosidosis Type 1 |
|
Spatulate ribs, Hearing impairment, Macrotia, Gingival overgrowth, Pectus carinatum, Hypoplastic ... |
ORPHA:79255 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Coxa vara, Tibial bowing, Enthesitis, Hypophosphatemic rickets, Genu varum, Increased bone minera... |
ORPHA:289176 |
| Microphthalmia, Syndromic 12 |
|
Intestinal malrotation, Micrognathia, Wide nasal bridge, Cleft palate, Pulmonary hypoplasia, Neon... |
OMIM:615524 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Dental crowding, Micrognathia, Generalized joint laxity, Tibial bowing, High palate, ... |
ORPHA:251028 |
| Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... |
OMIM:253200 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Joint dislocation, Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contrac... |
ORPHA:536471 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co... |
OMIM:149730 |
| Ossicular Malformations, Familial |
|
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles |
OMIM:165680 |
| Ataxia-Telangiectasia |
|
Abnormality of chromosome stability, Lymphopenia, Aplasia/Hypoplasia of the thymus |
ORPHA:100 |
| Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Split foot, Split hand, Hand monodactyly |
OMIM:183800 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Long clavicles, Overlapping toe, Arachnodactyly, Single transverse palmar c... |
ORPHA:83617 |
| Sarcoidosis, Susceptibility To, 2 |
|
Dyspnea, Pneumothorax, Clubbing, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulm... |
OMIM:612387 |
| Limb-Mammary Syndrome |
|
Syndactyly, Toe syndactyly, Cleft hard palate, Cleft lip, 3-4 finger cutaneous syndactyly, Cleft ... |
ORPHA:69085 |
| Lateral Meningocele Syndrome |
|
Vertebral fusion, Dental crowding, Joint hypermobility, Posteriorly rotated ears, Micrognathia, P... |
OMIM:130720 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Rhizomelia, Tibial bowing, Femoral bowing, Respiratory failu... |
OMIM:616482 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Coxa vara, Tibial bowing, Pectus carinatum, Reduced bone mineral density, Protruding ear, High pa... |
ORPHA:93315 |
| 17Q23.1Q23.2 Microdeletion Syndrome |
|
Patellar hypoplasia, Protruding ear, Congenital contracture, Widely spaced teeth, Clinodactyly of... |
ORPHA:261279 |
| Dent Disease 1 |
|
Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Recurrent fractures... |
OMIM:300009 |
| Say Syndrome |
|
Ulnar deviation of the 3rd finger, Short stature, Tapered finger, Micrognathia, Cleft palate, Mac... |
OMIM:181180 |
| Gaucher Disease Type 2 |
|
Respiratory distress, Recurrent respiratory infections, Flexion contracture, Cough, Abnormal patt... |
ORPHA:77260 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Abnormal pinna morphology, Abnormal rib morphology, Small hand, Short foot, Retrognat... |
ORPHA:488434 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Apnea, Micrognathia, Proximal femoral metaphyseal irregularity, Tachypnea, Early ossification of ... |
ORPHA:397715 |
| Oculomaxillofacial Dysostosis |
|
Brachydactyly, Median cleft lip, Camptodactyly of finger, Abnormality of the dentition, Abnormali... |
ORPHA:1794 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Selective tooth agenesis, Conical tooth, Cleft upper lip, Hypoplasia of the maxilla, 2-3 toe synd... |
OMIM:106260 |
| Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Micrognathia, Downturned corners of mouth, Short philtrum, Chronic otiti... |
ORPHA:280 |
| Hypoglossia With Situs Inversus |
|
Respiratory distress, Micrognathia, Upper airway obstruction, High palate, Hypodontia, Low-set ea... |
OMIM:612776 |
| Glass Syndrome |
|
Dental crowding, Anterior tibial bowing, Apnea, Conical tooth, Micrognathia, Long nose, Oligodont... |
OMIM:612313 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Coxa valga, Hypoplasia of the maxilla, Sensorineural hearing... |
OMIM:109120 |
| 3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Proximal placement of thumb, Micrognathia, High, narrow palate, Deep philt... |
ORPHA:435638 |
| Coloboma Of Macula And Skeletal Anomalies |
|
Hallux valgus, Coxa valga, Cleft palate, Contracture of the distal interphalangeal joint of the 5... |
OMIM:216800 |
| Fanconi Anemia, Complementation Group I |
|
Short stature, Absent thumb, Short thumb, Hypoplasia of the radius, Conductive hearing impairment... |
OMIM:609053 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Thin upper lip vermilion, Sandal gap, High, narrow palate, Submucous cleft ... |
OMIM:612863 |
| Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Osteopenia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Thin ... |
OMIM:616294 |
| Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Syndactyly, Wide anterior fontanel, Cleft pa... |
OMIM:619736 |
| Larsen-Like Syndrome |
|
Joint dislocation, Joint laxity, Conductive hearing impairment, Dental malocclusion, Cleft palate... |
OMIM:608545 |
| Fanconi Anemia, Complementation Group F |
|
Short stature, Absent thumb, Short thumb, Patent ductus arteriosus, Hypoplasia of the radius, 2-3... |
OMIM:603467 |
| Contractural Arachnodactyly, Congenital |
|
Osteopenia, Micrognathia, Pectus carinatum, Knee flexion contracture, High palate, Wrist flexion ... |
OMIM:121050 |
| Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Posteriorly rotated ears, Abnormal pinna morphology, Hypoplasia of the maxilla... |
ORPHA:228396 |
| Vacterl/Vater Association |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Preaxial hand polydactyly, Non-midline clef... |
ORPHA:887 |
| Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus |
|
Open bite, Dental crowding, Joint laxity, Hyperplasia of the maxilla |
OMIM:613671 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... |
ORPHA:85167 |
| Recombinant 8 Syndrome |
|
Micrognathia, Downturned corners of mouth, Abnormal sternum morphology, Clinodactyly of the 5th f... |
ORPHA:96167 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Knee flexion contra... |
OMIM:151050 |
| Bloom Syndrome |
|
Syndactyly, Chromosome breakage, Abnormality of chromosome stability, Postnatal growth retardatio... |
OMIM:210900 |
| 19P13.3 Microduplication Syndrome |
|
Posteriorly rotated ears, Micrognathia, Long fingers, Hip dislocation, Osteoporosis, Cleft palate... |
ORPHA:447980 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Death in infancy, Short thorax, Short long bone, Talipes equinovarus |
OMIM:618845 |
| Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Apnea, Hearing impairment, Micrognathia, Hypoplastic ... |
ORPHA:85201 |
| Nail-Patella Syndrome |
|
Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Thickening of the lateral border o... |
OMIM:161200 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Apnea, Ground-glass opacification, Dyspnea, Desq... |
OMIM:265120 |
| Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Posteriorly rotated ears, Micrognathia, Cleft palate, Microtia, Supernumera... |
OMIM:613309 |
| Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Long nose, Partial duplication of the distal phalanx of the 3rd finger... |
OMIM:101400 |
| Myopathy And Diabetes Mellitus |
|
Respiratory distress, Achilles tendon contracture, Sensorineural hearing impairment, Shoulder gir... |
ORPHA:2596 |
| Chromosome 1P35 Deletion Syndrome |
|
Thin upper lip vermilion, Posteriorly rotated ears, Micrognathia, Cough, Sensorineural hearing im... |
OMIM:617930 |
| Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Osteopathia str... |
ORPHA:93357 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, A... |
OMIM:619148 |
| Loeys-Dietz Syndrome 4 |
|
Joint laxity, Pes planus, Arachnodactyly, Protrusio acetabuli, Eosinophilic infiltration of the e... |
OMIM:614816 |
| 3C Syndrome |
|
Finger syndactyly, Recurrent respiratory infections, Death in infancy, Intestinal malrotation, Mi... |
ORPHA:7 |
| Grant Syndrome |
|
Wormian bones, Micrognathia, Down-sloping shoulders, Tibial bowing |
OMIM:138930 |
| Stickler Syndrome, Type I |
|
Arthropathy, Arachnodactyly, Micrognathia, Pectus excavatum, Joint stiffness, Irregular femoral e... |
OMIM:108300 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Short metacarpal, Short fourth metatarsal, Overlapping toe, Tented upper lip vermilio... |
OMIM:616723 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Broad hallux, Sandal gap, Cleft soft palate, Abnormality of the dentition, Micrognathia, Posterio... |
OMIM:618529 |
| Meier-Gorlin Syndrome 6 |
|
Microretrognathia, Recurrent respiratory infections, Sandal gap, Posteriorly rotated ears, Trache... |
OMIM:616835 |
| Fetal Akinesia Deformation Sequence |
|
Intestinal hypoplasia, Multiple joint contractures, Posteriorly rotated ears, Camptodactyly of fi... |
ORPHA:994 |
| Braddock-Carey Syndrome 1 |
|
U-Shaped upper lip vermilion, Posteriorly rotated ears, Pierre-Robin sequence, Small hand, Wide n... |
OMIM:619980 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Abnormality of the temporomandibular joint, Protruding tongue, Atelectasis, Flex... |
ORPHA:258 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Microretrognathia, Hip contracture, Radial deviation of the hand, Posteriorly rotated ears, Rocke... |
OMIM:301041 |
| Fryns Syndrome |
|
Tented upper lip vermilion, Single transverse palmar crease, Proximal placement of thumb, Promine... |
OMIM:229850 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Pes planus, Scapular winging, Micrognathia, Pectus excavatum, Submucous cleft hard palate, Unilat... |
OMIM:619122 |
| Rapp-Hodgkin Syndrome |
|
Syndactyly, Conical tooth, Cleft upper lip, Carious teeth, 2-3 toe cutaneous syndactyly, Velophar... |
OMIM:129400 |
| Lig4 Syndrome |
|
Abnormality of chromosome stability, Malabsorption, Micrognathia, Growth delay, Thin vermilion bo... |
ORPHA:99812 |
| Otodental Syndrome |
|
Delayed eruption of teeth, High-frequency sensorineural hearing impairment, Abnormal dental ename... |
ORPHA:2791 |
| Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Median cleft lip, Talipes, Absent thumb, Aplasia/Hypoplasia of... |
ORPHA:1234 |
| 15Q Overgrowth Syndrome |
|
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta... |
ORPHA:314585 |
| Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Narrow internal auditory canal, Hearing impairment, Micrognathia... |
ORPHA:233 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
| Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Plantar crease between first and second toes, Dental crowding, Single trans... |
OMIM:180849 |
| Ellis Van Creveld Syndrome |
|
Abnormal oral mucosa morphology, Micromelia, Conical incisor, Narrow chest, Microdontia, Emphysem... |
ORPHA:289 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Joint laxity, Spontaneous neonatal pneumothorax, Frontal open bite, Micrognathia, Del... |
OMIM:225410 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla, Cupped ear, Wide nasal bridge, Low-set ears, Clinodactyly of the 5th f... |
OMIM:167730 |
| Blount Disease |
|
Abnormality of the knee, Tibial bowing, Abnormal tibial metaphysis morphology, Abnormality of the... |
ORPHA:2768 |
| Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Pes planus, Carious teeth, Hypoplasia of the maxilla, High iliac wing,... |
ORPHA:50814 |
| Hypophosphatasia, Adult |
|
Arthropathy, Premature loss of permanent teeth, Osteomalacia, Premature loss of primary teeth, Re... |
OMIM:146300 |
| Osteoglosphonic Dysplasia |
|
Abnormal clavicle morphology, Rhizomelia, Craniosynostosis, Micrognathia, Protruding ear, Tooth a... |
ORPHA:2645 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Thoracic hypoplasia, Bowing of the legs, Delayed epiphyseal ossification, Metaphyse... |
ORPHA:93352 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Recurrent respiratory infections, Tongue atrophy, Respiratory distress, Resp... |
OMIM:211530 |
| Arthrogryposis Multiplex Congenita 5 |
|
Micrognathia, Flexion contracture, Death in infancy, Neonatal respiratory distress, Wide nasal br... |
OMIM:618947 |
| Emanuel Syndrome |
|
Congenital hip dislocation, Dental crowding, Multiple joint contractures, Micrognathia, High pala... |
ORPHA:96170 |
| Nestor-Guillermo Progeria Syndrome |
|
Microretrognathia, Wide cranial sutures, Dental crowding, Limited elbow movement, Micrognathia, D... |
OMIM:614008 |
| Pycnodysostosis |
|
Persistent open anterior fontanelle, Increased bone mineral density, Aplastic clavicle, Persisten... |
OMIM:265800 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Camptodactyly of finger, Wrist swelling, Polyarticular arthropathy, Knee osteoarthritis, Osteopor... |
ORPHA:2848 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Aplasia of the pectoralis major muscle, High palat... |
ORPHA:570 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema, Arachnodactyly, Hip dislocation |
OMIM:614100 |
| Icf Syndrome |
|
Abnormality of chromosome stability, Short stature, Malabsorption, Protruding tongue, Micrognathi... |
ORPHA:2268 |
| Infantile Systemic Hyalinosis |
|
Osteopenia, Abnormal dental morphology, Camptodactyly of finger, Micromelia, Malabsorption, Osteo... |
ORPHA:2176 |
| Distal Deletion 10Q |
|
Single transverse palmar crease, Micrognathia, 2-3 toe cutaneous syndactyly, Short metatarsal, Pr... |
ORPHA:96148 |
| Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Conductive hearing impairment, Velopharyngeal insufficiency, No... |
ORPHA:199302 |
| Vacterl With Hydrocephalus |
|
Absence of the sacrum, Microtia, third degree, Micrognathia, Esophageal atresia, Hypoplasia of th... |
ORPHA:3412 |
| Short Stature-Micrognathia Syndrome |
|
Joint laxity, Rhizomelia, Coxa valga, Bowing of the legs, Micrognathia, Metaphyseal widening, 2-3... |
OMIM:617164 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Monosomy 18P |
|
Micrognathia, Pectus excavatum, Carious teeth, Wide nasal bridge, Cleft palate, Protruding ear, D... |
ORPHA:1598 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Tongue fasciculations, Respiratory insufficiency |
ORPHA:238329 |
| Oculodentodigital Dysplasia |
|
Mandibular prognathia, Abnormal clavicle morphology, Micrognathia, Abnormality of the ear, Clinod... |
ORPHA:2710 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Low-set, posteriorly r... |
ORPHA:1908 |
| Frontorhiny |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplasti... |
ORPHA:391474 |
| Ollier Disease |
|
Micromelia, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis, Abnormal metaph... |
ORPHA:296 |
| Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Pectus excavatum, Palmar pits, Nar... |
ORPHA:77301 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Rickets, Tooth abscess, Bowing of the legs |
ORPHA:89937 |
| Verheij Syndrome |
|
Joint laxity, Thin upper lip vermilion, Vertebral fusion, Hip dislocation, Wide nasal bridge, Cle... |
OMIM:615583 |
| Arthrogryposis, Distal, Type 5D |
|
Tongue atrophy, Congenital hip dislocation, Limited elbow movement, Micrognathia, Limited knee fl... |
OMIM:615065 |
| Zimmermann-Laband Syndrome |
|
Hallux valgus, Pes planus, Micrognathia, Supernumerary tooth, Sensorineural hearing impairment, G... |
ORPHA:3473 |
| Mogs-Cdg |
|
Respiratory distress, Absent brainstem auditory responses, Thoracic scoliosis, Hypoventilation, A... |
ORPHA:79330 |
| Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... |
OMIM:200990 |
| Gracile Bone Dysplasia |
|
Death in infancy, Flared metaphysis, Thin ribs, Slender long bone, Decreased skull ossification, ... |
OMIM:602361 |
| Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, D... |
ORPHA:90646 |
| Larsen Syndrome |
|
Finger syndactyly, Large joint dislocations, Craniosynostosis, Accessory carpal bones, Cleft pala... |
ORPHA:503 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Delayed epiphyseal ossification, Macroglossia, Abnormal epiphysis morpholog... |
ORPHA:226313 |
| Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Camptodactyly of finger, Premature loss of primary teeth, Abnormality of the d... |
ORPHA:2907 |
| Monosomy 9P |
|
Proximal placement of thumb, Abnormality of the dentition, Abnormality of the tarsal bones, Narro... |
ORPHA:261112 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Osteopenia, Crackles, Dyspnea, Decreased DLCO, Clubbing of fingers, Pulmonary fibrosis, Cough, Re... |
OMIM:614742 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
| Bartsocas-Papas Syndrome 2 |
|
2-5 finger cutaneous syndactyly, Accessory oral frenulum, Micrognathia, Small hand, Antecubital p... |
OMIM:619339 |
| Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Attached earlobe, Upper limb peromelia, Hypoplasia of the maxilla, Anterio... |
ORPHA:1299 |
| Faciocardiomelic Syndrome |
|
Osteopenia, Micrognathia, Dental malocclusion, Wide mouth, Slender long bone, Polydactyly, Narrow... |
OMIM:612731 |
| Sweeney-Cox Syndrome |
|
Uplifted earlobe, Micrognathia, High palate, Narrow chest, Short philtrum, 2-5 toe syndactyly, Me... |
OMIM:617746 |
| Diamond-Blackfan Anemia 1 |
|
11 pairs of ribs, Absent thumb, Hypoplastic ilia, Short thumb, Partial duplication of thumb phala... |
OMIM:105650 |
| Cartilage-Hair Hypoplasia |
|
Joint laxity, Metaphyseal dysplasia, Anal stenosis, Aganglionic megacolon, Flaring of lower rib c... |
OMIM:250250 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... |
OMIM:180700 |
| Frank-Ter Haar Syndrome |
|
Osteopenia, Micrognathia, Protruding ear, High palate, Short palm, Short phalanx of finger, Corti... |
OMIM:249420 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
| Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Micrognathia, Missing ribs, Cleft palate, Low-set ears, Intrauterine growth retardati... |
OMIM:220210 |
| Craniofaciofrontodigital Syndrome |
|
Osteopenia, Joint laxity, Respiratory distress, Pyloric stenosis, Dyspnea, Osteoporosis, Gingival... |
ORPHA:363705 |
| Short Stature And Facioauriculothoracic Malformations |
|
Proportionate short stature, Cleft upper lip, Pectus excavatum, Cupped ear, Cleft palate, Pectus ... |
OMIM:609654 |
| Alpha-Mannosidosis, Infantile Form |
|
Mandibular prognathia, Osteopenia, Thickened ribs, Pectus carinatum, Cortical thickening of long ... |
ORPHA:309282 |
| Cerebrocostomandibular Syndrome |
|
Death in infancy, Neonatal respiratory distress, Tracheomalacia, Micrognathia, Conductive hearing... |
ORPHA:1393 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Thin upper lip vermilion, Hyperplasia of the maxilla |
OMIM:618587 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Pectus carinatum, Downturned corners of mouth, Knee flexion contracture, Clinodactyly of the 5th ... |
ORPHA:488642 |
| Trisomy 18 |
|
Microretrognathia, Low-set, posteriorly rotated ears, Camptodactyly of finger, Esophageal atresia... |
ORPHA:3380 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Short femur, Tapered finger |
OMIM:618367 |
| Mosaic Trisomy 9 |
|
Camptodactyly of finger, Rocker bottom foot, Micromelia, Elbow dislocation, Intestinal malrotatio... |
ORPHA:99776 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the philtrum, Cleft upper lip, Abnormality of the ear, Cleft palate, Palmoplantar ... |
OMIM:225060 |
| Hamamy Syndrome |
|
Osteopenia, Micrognathia, High palate, Clinodactyly of the 5th finger, Long toe, Syndactyly, Tape... |
OMIM:611174 |
| Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the to... |
ORPHA:989 |
| Elsahy-Waters Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Anteriorly placed anus, Cutaneous finger syndac... |
OMIM:211380 |
| Endocrine-Cerebroosteodysplasia |
|
Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, N... |
OMIM:612651 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Death in early adulthood, Dental crowding, Micrognathia, Narrow mouth, Short nose, Flexion contra... |
OMIM:608612 |
| Braddock-Carey Syndrome 2 |
|
Pierre-Robin sequence, Cleft palate, Wide mouth, Atresia of the external auditory canal, Clinodac... |
OMIM:619981 |
| 2Q31.1 Microdeletion Syndrome |
|
Micrognathia, Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, Short palm, ... |
ORPHA:251014 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Multiple joint contractures, Metaphyseal widening, Metaphyseal chondromatos... |
ORPHA:99646 |
| Mucopolysaccharidosis, Type X |
|
Spatulate ribs, Broad clavicles, Diastema, Open bite, Wide nasal bridge, Genu valgum, Hip dysplas... |
OMIM:619698 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Mixed hearing impairment, Posteriorly rotated ears, Micrognathia, Sensorine... |
OMIM:606164 |
| Robinow Syndrome |
|
Dental crowding, Micrognathia, Orofacial cleft, Fused thoracic vertebrae, Syndactyly, Persistence... |
ORPHA:97360 |
| Teebi Hypertelorism Syndrome 1 |
|
Thin upper lip vermilion, Natal tooth, Dental crowding, Sagittal craniosynostosis, Micrognathia, ... |
OMIM:145420 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Pes planus, Wide nasal bridge, Protruding ear |
OMIM:618302 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Micrognathia, Flexion contracture, Palmoplantar hyperkeratosis, High palate, Short ph... |
OMIM:619127 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolo... |
OMIM:239300 |
| Fanconi Renotubular Syndrome 5 |
|
Genu valgum, Decreased DLCO, Pulmonary fibrosis, Hypophosphatemic rickets, Emphysema, Lung adenoc... |
OMIM:618913 |
| Singleton-Merten Syndrome 1 |
|
Osteopenia, Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Joi... |
OMIM:182250 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, Micrognathia, 2-3 toe syndactyly, Cleft palate, Small thenar eminence, Microtia,... |
OMIM:239800 |
| Cranioectodermal Dysplasia 2 |
|
Micrognathia, Fused teeth, High palate, Narrow chest, Widely spaced teeth, Microdontia, Simple ea... |
OMIM:613610 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Micrognathia, Short metatarsal, Widely spaced teeth, Narrow chest, High palate, Micro... |
OMIM:266920 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
| Crouzon Syndrome |
|
Hypoplasia of the maxilla, Narrow palate, Multiple suture craniosynostosis, Respiratory insuffici... |
ORPHA:207 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Flexion contracture, Pulmonary hypoplasia, Intrauterine growth retardation,... |
OMIM:616733 |
| Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Micrognathia, Abnormal lung lobation, Talipes calcaneovalgus, Advanc... |
ORPHA:818 |
| Neonatal Marfan Syndrome |
|
Long toe, Neonatal respiratory distress, Arachnodactyly, Micrognathia, Long fingers, High, narrow... |
ORPHA:284979 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
| Trisomy 12P |
|
Micrognathia, Wide nasal bridge, Cleft palate, Downturned corners of mouth, Abnormal antihelix mo... |
ORPHA:1699 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Protruding tongue, Sensorineural hearing impairment, Patent ductus arteriosus, Alveolar ridge ove... |
OMIM:612938 |
| Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Postaxial hand polydact... |
OMIM:610829 |
| De Barsy Syndrome |
|
Delayed eruption of teeth, Recurrent sinopulmonary infections, Osteopenia, Congenital hip disloca... |
ORPHA:2962 |
| Cleft Velum |
|
Cleft soft palate, Hypoplasia of the maxilla, Conductive hearing impairment, Velopharyngeal insuf... |
ORPHA:99772 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral lung agenesis, Hypoplasia of the maxilla, Protruding ear, Downturned corners of mouth,... |
ORPHA:500150 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Natal tooth, Overlapping toe, Posteriorly rotated ears, Craniosynostosis, G... |
OMIM:123790 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Decreased palmar creases, Generalized joint laxity, Protruding ear, Abnormal sternum morphology, ... |
ORPHA:2953 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Irregular dentition, Swan neck-like deformities of the fingers, Arachnodactyly, Single transverse... |
OMIM:615656 |
| Kbg Syndrome |
|
Syndactyly, Vertebral fusion, Tented upper lip vermilion, Macrodontia, Single transverse palmar c... |
OMIM:148050 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Short 2nd finger, Sandal gap, Broad hallux, Tented upper lip vermilion,... |
OMIM:600987 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema |
OMIM:618773 |
| Adnp Syndrome |
|
Joint laxity, Thin upper lip vermilion, Respiratory distress, Broad hallux, Sandal gap, Single tr... |
ORPHA:404448 |
| Geleophysic Dysplasia 1 |
|
Short palm, Osteopenia, Camptodactyly of finger, Coxa valga, Pectus excavatum, Joint stiffness, S... |
OMIM:231050 |
| Epiphyseal Dysplasia, Baumann Type |
|
Carpal bone aplasia, Epiphyseal dysplasia, Pes planus, Joint laxity, Hypoplasia of the femoral he... |
OMIM:610797 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Craniosynostosis, Micrognathia, Pyloric stenosis, Sensorineural hearing impairment, Rib fusion, C... |
ORPHA:261197 |
| Desmosterolosis |
|
Low-set, posteriorly rotated ears, Increased bone mineral density, Intestinal malrotation, Microm... |
ORPHA:35107 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Wide nasal bridge, Malar flatteni... |
OMIM:620157 |
| Cree Mental Retardation Syndrome |
|
Aplasia/Hypoplasia of the ribs, Posteriorly rotated ears, Rocker bottom foot, Cleft soft palate, ... |
OMIM:606851 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Recurrent respiratory infections, Aganglionic megacolon, Malabsorption, Pectus excavatum, Reduced... |
ORPHA:935 |
| Coccidioidomycosis |
|
Respiratory distress, Osteomyelitis, Pneumonia, Cough, Osteolysis, Pulmonary infiltrates, Abnorma... |
ORPHA:228123 |
| Distal Deletion 19P |
|
Long toe, Low-set, posteriorly rotated ears, Arachnodactyly, Hypoplasia of the maxilla, Sensorine... |
ORPHA:96129 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Rhizomelia, Micrognathia, Brachioradialis areflexia, Trismus, Recurrent pne... |
OMIM:616271 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Hypoplastic ilia, Pectu... |
OMIM:615349 |
| Floating-Harbor Syndrome |
|
Enlarged joints, Hypoplasia of the maxilla, Long nose, Humeral pseudarthrosis, Oligodontia, Short... |
ORPHA:2044 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Craniosynostosis, Palmoplantar cutis gyrata, Hearing abnormality, Aplasia/H... |
ORPHA:1555 |
| Rhyns Syndrome |
|
Osteopenia, Radial bowing, Sensorineural hearing impairment, Osteoporosis, Short long bone, Short... |
OMIM:602152 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Hand clenching, Respiratory distress |
ORPHA:240103 |
| Goldberg-Shprintzen Syndrome |
|
Aganglionic megacolon, Tapered finger, Hypoplasia of the maxilla, Increased femoral anteversion, ... |
OMIM:609460 |
| Bor Syndrome |
|
Branchial cyst, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of ... |
ORPHA:107 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Pes planus, Posteriorly rotated ears, Malar flattening, Tapered finger, Cleft lip, Hip dislocatio... |
OMIM:301066 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Pulmonary... |
ORPHA:36238 |
| Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Abnormality of bone mineral d... |
ORPHA:861 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Single transverse palmar crease, Tibial bowing, Hypoplasia of fi... |
OMIM:269150 |
| Tularemia |
|
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Pneumonia, Oral ulcer, Pulmona... |
ORPHA:3392 |
| Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Pes planus, Joint laxity, Overlapping toe, Dental crowding, Hypoplasia of ... |
OMIM:617402 |
| Sanjad-Sakati Syndrome |
|
Low-set, posteriorly rotated ears, Recurrent respiratory infections, Intestinal obstruction, Abno... |
ORPHA:2323 |
| Fanconi Anemia, Complementation Group W |
|
Absent thumb, Hypoplasia of the radius, Abnormal radial ray morphology, Intrauterine growth retar... |
OMIM:617784 |
| Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Congenital hip dislocation, High, narrow palate, Clinodactyly of the 5th f... |
ORPHA:373 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Osteopenia, Respiratory distress, Congenital hip dislocation, Abnormal periodontium morphology, H... |
ORPHA:480880 |
| Lymphoid Interstitial Pneumonia |
|
Multiple pulmonary cysts, Crackles, Ground-glass opacification, Respiratory tract infection, Coug... |
ORPHA:79128 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Recurrent respiratory infections, Rib fusion, Restrictive ventilatory defect |
OMIM:608681 |
| Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Pneumonia, Limited elbow movement, Limited wrist movement, Dyspnea, Wide na... |
OMIM:617809 |
| Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Malar flattening, Coronal cranios... |
OMIM:241310 |
| X-Linked Centronuclear Myopathy |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:596 |
| Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Bowing of the legs |
OMIM:146350 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Nasal polyposis, Sinusitis, Bronchiectasi... |
OMIM:606763 |
| Dominant Beta-Thalassemia |
|
Bowing of the long bones, Malar prominence, Abnormality of the dentition, Dyspnea, Osteoporosis, ... |
ORPHA:231226 |
| Mgat2-Cdg |
|
Osteopenia, Low-set, posteriorly rotated ears, Respiratory distress, Dental crowding, Posteriorly... |
ORPHA:79329 |
| Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Clinodactyly, High palate, Con... |
OMIM:614188 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Deep philtrum, High palate, Clinodactyly of the 5th finger, Syndactyly, Vertebral fusion, Microti... |
OMIM:227330 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Pectus carinatum, Downturned corners of mouth, ... |
ORPHA:955 |
| Galloway-Mowat Syndrome 7 |
|
Hallux valgus, Arachnodactyly, Single transverse palmar crease, Micrognathia, Pectus excavatum, C... |
OMIM:618348 |
| Mucopolysaccharidosis, Type Iiid |
|
Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Joint stiffness, Achilles tendon contra... |
OMIM:252940 |
| Larsen Syndrome |
|
Short metatarsal, Pectus carinatum, Knee dislocation, Conductive hearing impairment, Hypoplastic ... |
OMIM:150250 |
| Distal Duplication 17Q |
|
Hallux valgus, Thin upper lip vermilion, Joint laxity, Low-set, posteriorly rotated ears, Overlap... |
ORPHA:3379 |
| Triploidy |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Intestinal malrotation, Micrognathia, Non-m... |
ORPHA:3376 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Crackles, Ground-glass opacification, Nonproductive... |
ORPHA:1302 |
| Kagami-Ogata Syndrome |
|
Pursed lips, Respiratory failure requiring assisted ventilation, Coxa valga, Micrognathia, Limita... |
ORPHA:254519 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Everted upper lip vermilion, Micrognathia, Metatarsus adductus, Abnormality of the gingiva, Osteo... |
ORPHA:513456 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Clubbing, Intraalveolar phosp... |
OMIM:610910 |
| Barber-Say Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Extra concha fold, Micrognathia, Hypoplasia of ... |
OMIM:209885 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, High, narrow ... |
ORPHA:464738 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Mixed hearing impairment, Sensorineural hearing impairment, Abnormal rib morphology, Cleft palate... |
OMIM:118100 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ... |
ORPHA:2521 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Recurrent respiratory infections, Death in infancy, Vertebral fusion, Block vertebrae, Rib fusion |
OMIM:277300 |
| Esophageal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Barrett esophagus, Intestinal malrotation... |
ORPHA:1199 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Single transvers... |
OMIM:309583 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Micrognathia, Anteriorly placed anus, Downturned corners of mouth, Pulmonary artery atresia, Shor... |
OMIM:616894 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vertebral fusion, Macrodontia, Abnormal dental enamel morphology, Elbow di... |
ORPHA:2916 |
| Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Xerostomia, Orofacial cleft, Microdontia, Conductive hearing impairment, Abnormal s... |
ORPHA:2363 |
| Czeizel-Losonci Syndrome |
|
Low-set, posteriorly rotated ears, Hitchhiker thumb, Single transverse palmar crease, Micrognathi... |
ORPHA:2437 |
| Acromelic Frontonasal Dysplasia |
|
Median cleft lip, Upper airway obstruction, Patellar hypoplasia, Wide mouth, Talipes equinovarus,... |
ORPHA:1827 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hypoplastic ischia, Micrognathia, Pectus carinatum, Knee flexion contracture, Oligodontia, High p... |
OMIM:210730 |
| Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Bowed humerus, Thin long bone diaphyses, Recurrent fractures, Hearing abnormality, ... |
OMIM:616507 |
| Diamond-Blackfan Anemia 6 |
|
Cleft upper lip, Micrognathia, Short thumb, Cleft palate, Triphalangeal thumb, Tracheomalacia, Re... |
OMIM:612561 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... |
OMIM:263000 |
| Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum,... |
OMIM:101200 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Thin upper lip vermilion, Hypoplasia of the maxilla, Protruding ear, Smooth philtrum, Widely-spac... |
OMIM:618737 |
| Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Posteriorly rotated ears, Single transverse ... |
OMIM:247200 |
| Diamond-Blackfan Anemia 7 |
|
Osteopenia, Small hypothenar eminence, Short thumb, Patent ductus arteriosus, Osteoporosis, Cleft... |
OMIM:612562 |
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Osteopenia, Short stature, Cleft upper lip, Sensorineural hearing impairment, Cleft palate, Tooth... |
OMIM:147950 |
| X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Respiratory insufficiency, Thin ribs, High palate, Retrognathia, Joint hypermobility |
ORPHA:456328 |
| Lethal Congenital Contracture Syndrome 9 |
|
Thoracic kyphoscoliosis, Thin upper lip vermilion, Ulnar deviation of the hand, Elbow extension c... |
OMIM:616503 |
| Peters-Plus Syndrome |
|
Short lingual frenulum, Single transverse palmar crease, Proximal placement of thumb, Limited elb... |
OMIM:261540 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:605809 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
High, narrow palate, Short palm, Clinodactyly of the 5th finger, Arachnodactyly, Ulnar deviation ... |
ORPHA:261330 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla, Abnormality of cartilage of external ear, Recurrent upper respiratory ... |
ORPHA:2399 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Pneumothorax, Chronic pulmonary obstruction, Bronchiecta... |
ORPHA:411703 |
| Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Bilateral conductive hearing impai... |
ORPHA:2010 |
| Wolf-Hirschhorn Syndrome |
|
Single transverse palmar crease, Micrognathia, Orofacial cleft, Downturned corners of mouth, Shor... |
OMIM:194190 |
| Coffin-Lowry Syndrome |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ... |
OMIM:303600 |
| Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Joint contracture |
OMIM:617977 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Apnea, Single transverse palmar crease, Micrognathia, Metatarsus adductus, Cleft palate, Death in... |
OMIM:214110 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb |
OMIM:602200 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Hand oligodactyly, Aplasia of the ulna |
OMIM:276822 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t... |
ORPHA:2658 |
| X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Cupped ear, Short philtrum, Macr... |
ORPHA:93945 |
| Frontometaphyseal Dysplasia 2 |
|
Congenital hip dislocation, Elbow contracture, Deep philtrum, Short metatarsal, Finger clinodacty... |
OMIM:617137 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Macrotia, Anal atresia |
ORPHA:93950 |
| Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
| Dyskeratosis Congenita |
|
Recurrent respiratory infections, Esophageal stenosis, Recurrent fractures, Hearing impairment, A... |
ORPHA:1775 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Micrognathia, Asthma, Cleft palate, Short 5th finger, Polydactyly, Ectrodactyly, Low-... |
ORPHA:397590 |
| Kabuki Syndrome 2 |
|
Joint laxity, Natal tooth, Hearing impairment, Micrognathia, Lower lip pit, Cupped ear, Hip dislo... |
OMIM:300867 |
| Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Abnormal thoracic spine morphology, Abnormal pelvis bone morphology,... |
ORPHA:464329 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... |
ORPHA:264675 |
| Fryns-Smeets-Thiry Syndrome |
|
Arachnodactyly, Micrognathia, Thick lower lip vermilion, Patellar aplasia, Hip dislocation, Wide ... |
ORPHA:2058 |
| Beta-Thalassemia Major |
|
Bowing of the long bones, Malar prominence, Abnormality of the dentition, Dyspnea, Osteoporosis, ... |
ORPHA:231214 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Multiple rib fractures, Death in infancy, Abnormal trabecular bone morphology, Femur fracture, Re... |
OMIM:612301 |
| Fanconi Anemia, Complementation Group D2 |
|
Short stature, Absent thumb, Absent radius, Esophageal atresia, Short thumb, Preaxial hand polyda... |
OMIM:227646 |
| Orofaciodigital Syndrome Type 6 |
|
Low-set, posteriorly rotated ears, Syndactyly, Mesoaxial polydactyly, Apnea, Episodic tachypnea, ... |
ORPHA:2754 |
| Pseudoaminopterin Syndrome |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Orofacial cleft, High pala... |
ORPHA:221120 |
| Fanconi Anemia, Complementation Group E |
|
Short stature, Absent thumb, Absent radius, Short thumb, Deficient excision of UV-induced pyrimid... |
OMIM:600901 |
| Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Joint laxity, Thick lower lip vermilion, Flared metaphysis, Advanced ossification of carpal bones... |
OMIM:610442 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Prominent metopic ridge, Tented upper lip vermilion, Exaggerated cupid's bow, Small earlobe, Hear... |
ORPHA:364577 |
| Dextrocardia |
|
Congenital hip dislocation, Intestinal malrotation, Abnormal foot morphology, Abnormal lung lobat... |
ORPHA:1666 |
| Orofaciodigital Syndrome Type 1 |
|
Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly of the 5t... |
ORPHA:2750 |
| Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Ground-glass opacification, Productive cough, Nonpr... |
ORPHA:454836 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Thick upper lip vermilion, Thin bony cortex, Hearing impairment, Thick low... |
OMIM:619727 |
| Witteveen-Kolk Syndrome |
|
Glue ear, Proximal placement of thumb, Uplifted earlobe, High, narrow palate, Clinodactyly, Protr... |
OMIM:613406 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Sensorineural hearing impairment, Cleft palate, Radioulnar synostosis, Short middle phalanx of th... |
OMIM:616738 |
| Desmosterolosis |
|
Rhizomelia, Posteriorly rotated ears, Micrognathia, Generalized osteosclerosis, Cupped ear, Alveo... |
OMIM:602398 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Respiratory tract infection, Atelectasis, Respiratory insufficie... |
ORPHA:365 |
| Hallermann-Streiff Syndrome |
|
Natal tooth, Recurrent fractures, Tracheomalacia, Abnormality of the dentition, Micrognathia, Hig... |
ORPHA:2108 |
| Meckel Syndrome 14 |
|
Microretrognathia, Syndactyly, Bowing of the long bones, Talipes, Postaxial polydactyly, Microgna... |
OMIM:619879 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Pectus excavatum, High, narrow palate, Hypoplasia... |
ORPHA:1101 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Micrognathia, Tachypnea, Bell-shaped thorax, Pulmonary arterial hypertension, Horizontal ribs |
OMIM:614857 |
| Rothmund-Thomson Syndrome Type 2 |
|
Joint dislocation, Osteopenia, Long nose, Patellar hypoplasia, High palate, Microdontia, Short ph... |
ORPHA:221016 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
| Fanconi Anemia, Complementation Group C |
|
Short stature, Absent thumb, Absent radius, Short thumb, Deficient excision of UV-induced pyrimid... |
OMIM:227645 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Peripheral pulmonary artery stenosis, Anal stenosis, Tented upper lip vermilion, Broad hallux, Ag... |
OMIM:614749 |
| Fryns Syndrome |
|
Low-set, posteriorly rotated ears, Tented upper lip vermilion, Median cleft lip, Aganglionic mega... |
ORPHA:2059 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Exaggerated cupid's bow, Micrognathia, Sensorineural hearing impair... |
OMIM:614230 |
| Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology, Premature loss of ... |
ORPHA:2908 |
| Acrofrontofacionasal Dysostosis 1 |
|
Mandibular prognathia, Short metacarpal, Mixed hearing impairment, Cleft upper lip, Pectus excava... |
OMIM:201180 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Intrauterine growth retardation |
ORPHA:26792 |
| Dental Anomalies And Short Stature |
|
Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth... |
OMIM:601216 |
| Cowden Syndrome 5 |
|
Colonic diverticula, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Palmoplantar hype... |
OMIM:615108 |
| Fanconi Anemia, Complementation Group A |
|
Short stature, Absent thumb, Absent radius, Short thumb, Deficient excision of UV-induced pyrimid... |
OMIM:227650 |
| Teebi-Shaltout Syndrome |
|
Single transverse palmar crease, High, narrow palate, Pectus carinatum, Oligodontia, Small earlob... |
OMIM:272950 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Developmental And Epileptic Encephalopathy 89 |
|
Microretrognathia, Thin upper lip vermilion, Asymmetry of the ears, Flexion contracture, Wide nas... |
OMIM:619124 |
| Cranioectodermal Dysplasia 3 |
|
Joint laxity, Sandal gap, Rhizomelia, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, Sa... |
OMIM:614099 |
| Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Osteopathia striata, Short metatarsal, Anteriorly placed anus, Oligod... |
OMIM:305600 |
| Alg9-Cdg |
|
Villous atrophy, Micrognathia, Abnormal lung lobation, Large fleshy ears, Narrow greater sciatic ... |
ORPHA:79328 |
| Acute Lung Injury |
|
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... |
ORPHA:178320 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Reduced natural killer cell count, ... |
OMIM:620133 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Thin upper lip vermilion, Death in infancy, Micrognathia, Postaxial hand polydactyly, Pulmonary l... |
OMIM:235255 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Hypoplasia of the maxilla, Wide nasal... |
ORPHA:306542 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Macroglossia, High pala... |
ORPHA:254864 |
| Enlarged Parietal Foramina |
|
Occipital encephalocele, Craniosynostosis, Cleft lip, Myelomeningocele, Cleft palate, Short clavi... |
ORPHA:60015 |
| Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, Generalized joint laxity, Coxa vara, High palate, Emphyse... |
ORPHA:2834 |
| Alg12-Cdg |
|
Proximal placement of thumb, Micrognathia, Short philtrum, Abnormal bone ossification, Clinodacty... |
ORPHA:79324 |
| Bohring-Opitz Syndrome |
|
Joint dislocation, Recurrent respiratory infections, Prominent metopic ridge, Low-set, posteriorl... |
ORPHA:97297 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Recurrent respiratory infections, Abnormal pelvis bone morphology, Aganglionic megacolon, Camptod... |
ORPHA:2273 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Folate-dependent fragile site at Xq28 |
ORPHA:85327 |
| Aymé-Gripp Syndrome |
|
Oligodontia, Clinodactyly of the 5th finger, Prominent metopic ridge, Tapered finger, Abnormal th... |
ORPHA:1272 |
| Fanconi Renotubular Syndrome 3 |
|
Rickets, Bowing of the legs |
OMIM:615605 |
| Whim Syndrome |
|
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Respiratory trac... |
ORPHA:51636 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Missing ribs, Esophageal atresia, Tracheoesophageal fistula, Talipes equinovarus, Neonatal death,... |
OMIM:619859 |
| Cowden Syndrome 6 |
|
Colonic diverticula, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Palmoplantar hype... |
OMIM:615109 |
| Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
| Lymphangiectasia, Intestinal |
|
Malabsorption, Pedal edema, Stillbirth, Intestinal lymphangiectasia, Prominent floating ribs |
OMIM:152800 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... |
ORPHA:140896 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Congenital hip dislocation, Delayed closure of the anterior fontanelle, Carious teeth, Generalize... |
ORPHA:357074 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Tracheobronchomalacia, Pro... |
OMIM:613458 |
| Hydrolethalus |
|
Low-set, posteriorly rotated ears, Micromelia, Micrognathia, Postaxial hand polydactyly, Submucou... |
ORPHA:2189 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Tapered toe, Tapered finger, Celiac disease, Macrotia, Sensorineural hearing impairment, Rib fusi... |
ORPHA:544488 |
| Meier-Gorlin Syndrome 2 |
|
Abnormal pinna morphology, Joint hypermobility, Micrognathia, Patellar aplasia, Slender long bone... |
OMIM:613800 |
| Craniofacial Microsomia 1 |
|
Micrognathia, Hypoplasia of the maxilla, Anotia, Conductive hearing impairment, Duplicated tragus... |
OMIM:164210 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal clavicle morphology, Abnormal dental morphology, Abnormal dental enamel morphology, Tars... |
ORPHA:85199 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
11 pairs of ribs, Chronic lung disease, Acute respiratory distress syndrome, Delayed cranial sutu... |
OMIM:620005 |
| Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint... |
OMIM:603543 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Anal stenosis, Block vertebrae, Missing ribs, Pectus excavatum, Reduced forced ... |
OMIM:613686 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Pectus excavatum of inferior sternum, Thin upper lip vermilion, Posteriorly rotated ears, Rocker ... |
OMIM:601353 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Dyspnea, Calf muscle hypertrophy, Thigh hypertrophy, Cough, Triceps weakness |
ORPHA:86812 |
| Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Miscarriage, Respiratory insufficiency due to muscle wea... |
ORPHA:169189 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy, Sensorineural hearing impairment |
OMIM:616974 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Flexion contracture, Absent phalangeal crease, Antec... |
OMIM:618469 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Tented upper lip vermilion, Micrognathia, Aplasia of the distal phalanx of the 5th finger, Oligod... |
OMIM:608670 |
| Menke-Hennekam Syndrome 2 |
|
Thin upper lip vermilion, Sandal gap, Overlapping toe, Duodenal ulcer, Micrognathia, Deep philtru... |
OMIM:618333 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Sandal gap, Abnormal dental enamel morphology, Pectus excavatum, Abnormal fibula morphology, Clef... |
ORPHA:1812 |
| Zygomycosis |
|
Sinusitis, Gastritis, Epistaxis, Atelectasis, Pneumothorax, Enterocolitis, Osteolysis, Pulmonary ... |
ORPHA:73263 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Posteriorly rotated ears, Down-sloping shoulders, Micrognathia, Open bite, Dee... |
ORPHA:1974 |
| Oculodentodigital Dysplasia |
|
Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Microdontia, Conducti... |
OMIM:164200 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Anal stenosis, Posteriorly rotated ears, Micrognathia, Short nose, Cupped ear, Overfolded helix, ... |
OMIM:614080 |
| Congenital Diaphragmatic Hernia |
|
Respiratory distress, Intestinal malrotation, Hypoxemia, Prominent sternum, Pulmonary hypoplasia |
ORPHA:2140 |
| Episodic Ataxia Type 1 |
|
Hand clenching, Calf muscle hypertrophy, Vertigo, Respiratory distress |
ORPHA:37612 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Barrel-shaped chest, Hip contracture, Vertebral fusion, Posteriorly rotated ears, Tarsal synostos... |
OMIM:178110 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Thin upper lip vermilion, Long philtrum |
OMIM:614741 |
| Loeys-Dietz Syndrome 5 |
|
Tented upper lip vermilion, Osteoarthritis, Pectus carinatum, High palate, Bilateral coxa valga, ... |
OMIM:615582 |
| Dent Disease |
|
Enlarged epiphyses, Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia,... |
ORPHA:1652 |
| Fanconi Anemia, Complementation Group N |
|
Postnatal growth retardation, Short thumb, Chromosomal breakage induced by crosslinking agents |
OMIM:610832 |
| Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Congenital hip dislocation, Intestin... |
OMIM:113650 |
| Craniofacioskeletal Syndrome |
|
Barrel-shaped chest, Thin upper lip vermilion, Pes planus, Posteriorly rotated ears, Micrognathia... |
OMIM:300712 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Respiratory distress, Narrow mouth, Mandibular aplasia, Microg... |
ORPHA:990 |
| Aase-Smith Syndrome I |
|
Death in infancy, Abnormal pinna morphology, Flexion contracture, Cleft palate, Talipes equinovar... |
OMIM:147800 |
| 3Mc Syndrome 1 |
|
Dental crowding, Single interphalangeal crease of fifth finger, Cleft upper lip, Postnatal growth... |
OMIM:257920 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Postaxial polydactyly, Aplastic clavicle, Micromelia, Accessory oral frenulum, Hamartoma of tongu... |
OMIM:616546 |
| Chime Syndrome |
|
Abnormal dental morphology, Aplastic clavicle, Abnormality of the dentition, Supernumerary tooth,... |
ORPHA:3474 |
| Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Joint dislocation, Toe syndactyly, Death in infancy, Camptodact... |
ORPHA:2008 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Otosclerosis, Thickened ribs, Abnormal dental morphology, Camptodactyly of finger, Sensorineural ... |
ORPHA:217085 |
| Opitz-Kaveggia Syndrome |
|
Multiple joint contractures, Dental crowding, Single transverse palmar crease, Micrognathia, Ante... |
OMIM:305450 |
| Distal Deletion 9P |
|
Low-set, posteriorly rotated ears, Abnormality of the dentition, High, narrow palate, Aplasia/Hyp... |
ORPHA:1642 |
| Cdags Syndrome |
|
Delayed cranial suture closure, Sagittal craniosynostosis, Rectourethral fistula, Sensorineural h... |
OMIM:603116 |
| Charge Syndrome |
|
Abnormal tibia morphology, Hypoplasia of the semicircular canal, Abnormality of bone mineral dens... |
ORPHA:138 |
| Digeorge Syndrome |
|
Micrognathia, High, narrow palate, Atelectasis, Recurrent pneumonia, Chronic pulmonary obstructio... |
OMIM:188400 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Natal tooth, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinod... |
OMIM:609638 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Otosclerosis, Thickened ribs, Abnormal dental morphology, Camptodactyly of finger, Sensorineural ... |
ORPHA:217093 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Joint dislocation, Pes planus, Osteopenia, Congenital hip dislocation, Arachnodactyly, Protrusio ... |
OMIM:225400 |
| Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Recurrent respiratory infections, Median cleft lip, Sandal gap, Agangli... |
OMIM:174300 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Abnormal lung lobation, Pectus carinatum, Narrow greater sciatic notch, Sh... |
OMIM:312870 |
| Genitopalatocardiac Syndrome |
|
Micrognathia, Postaxial hand polydactyly, Non-midline cleft lip, Wide nasal bridge, Cleft palate,... |
ORPHA:2075 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, High palate, Conductive hearing impairment, Pre... |
OMIM:102500 |
| Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Thin upper lip vermilion, Toe syndactyly, Pulmonary artery stenosis, Hypoplasia of the radius, Wi... |
ORPHA:140952 |
| Caffey Disease |
|
Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon... |
OMIM:114000 |
| Mccune-Albright Syndrome |
|
Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bones, Dental malocclusion, Abnormal ... |
ORPHA:562 |
| Lujo Hemorrhagic Fever |
|
Respiratory distress, Stiff neck, Crackles, Atelectasis, Nonproductive cough, Rhinitis |
ORPHA:319213 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies |
OMIM:307500 |
| Shwachman-Diamond Syndrome 2 |
|
Death in infancy, Anterior rib cupping, Metaphyseal widening, Death in childhood, High palate, Lo... |
OMIM:617941 |
| Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
|
Down-sloping shoulders, Micrognathia, Long nose, Long fingers, 2-3 toe cutaneous syndactyly, Clef... |
OMIM:301091 |
| Restrictive Dermopathy |
|
Osteopenia, Multiple joint contractures, Micrognathia, Structural foot deformity, Decreased skull... |
ORPHA:1662 |
| Distal Deletion 15Q |
|
Thin upper lip vermilion, Single transverse palmar crease, Hearing impairment, Abnormality of the... |
ORPHA:1596 |
| Marfan Syndrome |
|
Pulmonary artery dilatation, Pes planus, Osteopenia, Arthralgia/arthritis, Arachnodactyly, Protru... |
ORPHA:558 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Micromelia, Cleft upper lip, Micrognathia, Preaxial hand polydactyly, Abnormal pelvis bone ossifi... |
ORPHA:93271 |
| Primrose Syndrome |
|
Hypoplasia of the maxilla, Flexion contracture, Knee flexion contracture, Downturned corners of m... |
OMIM:259050 |
| Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
| Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... |
OMIM:615067 |
| Crouzon Syndrome |
|
Mandibular prognathia, Dental crowding, Sagittal craniosynostosis, Hypoplasia of the maxilla, Hig... |
OMIM:123500 |
| Lethal Acantholytic Erosive Disorder |
|
Natal tooth, Abnormal pinna morphology, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palat... |
ORPHA:158687 |
| Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Joint stiffness, Recurrent upper respiratory tract infections, Dense calvaria, He... |
OMIM:252920 |
| Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Abnormal clavicle morphology, Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasi... |
ORPHA:85165 |
| Relapsing Polychondritis |
|
Chondritis of pinna, Atelectasis, Vertigo, Limitation of joint mobility, Sensorineural hearing im... |
ORPHA:728 |
| Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Tracheoesophageal fistula, Upper airway obstruction, Neoplasm of t... |
ORPHA:142 |
| Pachyonychia Congenita |
|
Respiratory distress, Natal tooth, Angular cheilitis, Ear pain, Palmoplantar keratoderma, Palmopl... |
ORPHA:2309 |
| Cowden Syndrome 1 |
|
Colonic diverticula, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Palmoplantar hype... |
OMIM:158350 |
| Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Diffuse alveolar hemorrhage, Ground-glass opacification, Pulmonary capillary hem... |
ORPHA:199241 |
| Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Respiratory distress, Swelling of proximal interphalangeal joints, Ankle swelling,... |
ORPHA:3260 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Dental crowding, Downturned corners of mouth, Short philtrum, Widely spaced teeth, Broad hallux, ... |
OMIM:301044 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Pectus excavatum, Atelectasis, Tachypnea, Respiratory insuffici... |
OMIM:618278 |
| Atresia Of External Auditory Canal And Conductive Deafness |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... |
OMIM:108760 |
| Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Missing ribs, Pectus carinatum, Posterior rib fusion, Supernumerary ribs |
OMIM:122600 |
| Vater/Vacterl Association |
|
Syndactyly, Absent radius, Short thumb, Esophageal atresia, Hypoplasia of the radius, Preaxial po... |
OMIM:192350 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, Finger syndactyly, Neonatal respiratory distress, Micrognathia, 2-3 toe syndact... |
OMIM:620025 |
| Ohdo Syndrome, Sbbys Variant |
|
Thin upper lip vermilion, Posteriorly rotated ears, Micrognathia, Cleft palate, Patellar dislocat... |
OMIM:603736 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Narrow chest, Brachydactyly |
OMIM:613819 |
| Meckel Syndrome, Type 2 |
|
Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni... |
OMIM:603194 |
| Craniofrontonasal Syndrome |
|
Joint laxity, Toe syndactyly, Broad hallux, Down-sloping shoulders, Cleft upper lip, Pectus excav... |
OMIM:304110 |
| Nipah Virus Disease |
|
Respiratory distress, Recurrent pharyngitis, Vertigo, Cough |
ORPHA:99825 |
| Marfan Syndrome |
|
Dental crowding, Genu recurvatum, Equinus calcaneus, Micrognathia, Flexion contracture, Narrow fo... |
OMIM:154700 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Osteomyelitis, Pneumonia, Respiratory tract infection, Abnormali... |
ORPHA:36234 |
| Meier-Gorlin Syndrome 7 |
|
Bowing of the legs, Anteriorly placed anus, High palate, Dislocated radial head, 2-4 finger synda... |
OMIM:617063 |
| Restrictive Dermopathy 1 |
|
Micrognathia, Flexion contracture, Overtubulated long bones, Neonatal death, Ankylosis, Temporoma... |
OMIM:275210 |
| Incontinentia Pigmenti |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental morphology, Camptodactyly of finger... |
ORPHA:464 |
| Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinovarus, Intrauter... |
ORPHA:86822 |
| Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chronic pulmonary obstruction, Cough, Pulmonary arterial hypertension, Pleu... |
ORPHA:2414 |
| Septopreoptic Holoprosencephaly |
|
Anteriorly placed anus, Abnormal rib morphology |
ORPHA:280195 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Recurrent respiratory infections, Toe syndactyly, Absence of Stensen duct, Selective tooth agenes... |
OMIM:129900 |
| Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Joint stiffness, Recurrent upper respiratory tract infections, Everted lower lip ... |
OMIM:252930 |
| Mucopolysaccharidosis, Type Iiia |
|
Thickened ribs, Joint stiffness, Recurrent upper respiratory tract infections, Dense calvaria, He... |
OMIM:252900 |
| Holoprosencephaly 7 |
|
Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Hypoplasia of the premaxilla, Wide... |
OMIM:610828 |
| Toriello-Carey Syndrome |
|
Aganglionic megacolon, Short stature, Hearing impairment, Abnormal pinna morphology, Postnatal gr... |
ORPHA:3338 |
| Tetraamelia Syndrome 2 |
|
Microretrognathia, Bilateral cleft lip, Micrognathia, Hypoplastic pulmonary veins, Cleft palate, ... |
OMIM:618021 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormal rib morphology, Abnormality of the humeroulnar joint |
ORPHA:2234 |
| Aspartylglucosaminuria |
|
Mandibular prognathia, Recurrent respiratory infections, Pes planus, Abnormal morphology of ulna,... |
ORPHA:93 |
| Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Posteriorly rotated ears, Tarsal synostosis, Conductive hearing impairment, Congeni... |
OMIM:157800 |
| Sprengel Deformity |
|
Rib segmentation abnormalities, Sprengel anomaly, Shoulder muscle hypoplasia |
OMIM:184400 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Abnormal rib morphology, Hearing impairment |
ORPHA:2578 |
| Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Posteriorly rotated ears, Sensorineural hearing impairment, Knee flexion co... |
OMIM:618733 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Pes planus, Posteriorly rotated ears, Single transverse palmar crease, ... |
ORPHA:466943 |
| Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in... |
ORPHA:60025 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Erosion of oral mucosa, Abnormal oral mucosa morphology, Abnormal fingertip... |
ORPHA:79404 |
| Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Recurrent respiratory infections, Single transverse palmar crease, Small ha... |
OMIM:615273 |
| Pentalogy Of Cantrell |
|
Talipes, Abnormal tibia morphology, Split hand, Non-midline cleft lip, Orofacial cleft, Cleft pal... |
ORPHA:1335 |
| Camurati-Engelmann Disease |
|
Delayed eruption of teeth, Abnormal morphology of the radius, Metaphyseal dysplasia, Pes planus, ... |
ORPHA:1328 |
| C Syndrome |
|
Joint dislocation, Micromelia, Micrognathia, High palate, Clinodactyly of the 5th finger, Bilater... |
ORPHA:1308 |
| Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Thin upper lip vermilion, Pes planus, Osteopenia, Joint laxity, Delaye... |
OMIM:607812 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Abnormal lung lobation, Orofacial cleft, High palate, Clinodactyly of the 5th finger, Conductive ... |
OMIM:607872 |
| Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Pulmonary infiltrates, Rest... |
ORPHA:538 |
| Japanese Encephalitis |
|
Respiratory distress, Irregular respiration, Stiff neck, Genu recurvatum, Elbow flexion contractu... |
ORPHA:79139 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
OMIM:613561 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
| Malaria |
|
Respiratory distress |
ORPHA:673 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
| Craniofacial-Deafness-Hand Syndrome |
|
Ulnar deviation of the hand, Hypoplasia of the maxilla, Sensorineural hearing impairment, Malar f... |
OMIM:122880 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Joint dislocation, Generalized joint laxity, Protruding ear, High palate, Abnormal duodenum morph... |
OMIM:601776 |
| Native American Myopathy |
|
Joint laxity, Micrognathia, Conductive hearing impairment, Cleft palate, Respiratory insufficienc... |
ORPHA:168572 |
| Split Lower Lip |
|
Abnormal lower lip morphology, Lower lip pit, Narrow maxilla, Abnormality of the dentition |
OMIM:183400 |
| Nijmegen Breakage Syndrome |
|
Anal stenosis, Abnormality of chromosome stability, Short stature, Hearing abnormality, Deep phil... |
ORPHA:647 |
| Folinic Acid-Responsive Seizures |
|
Respiratory distress, Sensorineural hearing impairment, Apnea |
ORPHA:79097 |
| Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... |
ORPHA:95430 |
| Bare Lymphocyte Syndrome, Type I |
|
Nasal polyposis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis medi... |
OMIM:604571 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Anterior rib cupping, Pneumonia, Horizontal inferior border of scapula, Asthma, Recurr... |
OMIM:102700 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress |
ORPHA:91130 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Barrel-shaped chest, Recurrent respiratory infections, Respiratory distress, Joint stiffness, Fle... |
ORPHA:505248 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Anal stenosis, Hypoplasia of the maxilla, Wide nasal bridge, Everted lower... |
OMIM:601499 |
| Marden-Walker Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Talipes, Micrognathia, Metatarsus adductus, Pectus excav... |
ORPHA:2461 |
| Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Hearing impairment, Micrognathia, Cleft lip, Cleft pala... |
ORPHA:1724 |
| Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li... |
OMIM:311200 |
| 15q26 overgrowth syndrome |
|
Long toe, Mandibular prognathia, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Taper... |
DECIPHER:81 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Thin upper lip vermilion, Tented upper lip vermilion, External ear malforma... |
ORPHA:438216 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Osteopenia, Single transverse palmar crease, Short philtrum, Joint contracture of the 5th finger,... |
ORPHA:363611 |
| Nijmegen Breakage Syndrome |
|
Anal stenosis, Sinusitis, Sandal gap, Recurrent bronchitis, Cleft upper lip, Micrognathia, Malar ... |
OMIM:251260 |
| Fraser Syndrome 3 |
|
Micrognathia, Short toe, Abnormal lung lobation, Cutaneous syndactyly, Stillbirth, Low-set ears, ... |
OMIM:617667 |
| Gm1-Gangliosidosis, Type I |
|
Death in infancy, Thickened ribs, Joint stiffness, Gingival overgrowth, Hypoplastic vertebral bod... |
OMIM:230500 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Sensorineural hearing impairment, Rickets, Hypo... |
OMIM:241520 |
| Adams-Oliver Syndrome 6 |
|
Syndactyly, Esophageal varix, Foot oligodactyly, Brachydactyly |
OMIM:616589 |
| Familial Visceral Myopathy |
|
Low-set, posteriorly rotated ears, Aganglionic megacolon, Arachnodactyly, Camptodactyly of finger... |
ORPHA:2604 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Submucous cleft ... |
ORPHA:1071 |
| Cerebrofaciothoracic Dysplasia |
|
Low-set, posteriorly rotated ears, Cleft upper lip, Short nose, Rib fusion, Cleft palate, Wide mo... |
ORPHA:1394 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Cerebrooculonasal Syndrome |
|
Posteriorly rotated ears, Postaxial polydactyly, Craniosynostosis, Conductive hearing impairment,... |
OMIM:605627 |
| Sarcoidosis, Susceptibility To, 1 |
|
Cough, Dyspnea, Bone cyst, Clubbing, Bronchiectasis, Abnormal pulmonary interstitial morphology, ... |
OMIM:181000 |
| Radius, Aplasia Of, With Cleft Lip/Palate |
|
Absent radius, Cleft palate, Cleft upper lip |
OMIM:179400 |
| Neu-Laxova Syndrome 1 |
|
Micromelia, Swollen lip, Micrognathia, Calcaneovalgus deformity, Neonatal death, Pterygium, Finge... |
OMIM:256520 |
| Fanconi-Bickel Syndrome |
|
Osteopenia, Bowing of the long bones, Rickets |
ORPHA:2088 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Anal stenosis, Toe syndactyly, Absence of Stensen duct, Selective tooth agenesis, Hypoplastic sac... |
OMIM:604292 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Ground-glass opacification, Reduced forced vital c... |
ORPHA:91359 |
| Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, A... |
OMIM:611561 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Bilateral trilobed lung, Absence of the sacrum, Congenital hip dislocation,... |
OMIM:306955 |
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
Joint laxity, Recurrent respiratory infections, Arachnodactyly, Pectus excavatum, Emphysema |
OMIM:219100 |
| Cat Eye Syndrome |
|
Anal stenosis, Intestinal malrotation, Rectal fistula, Absent radius, Micrognathia, Rectal atresi... |
OMIM:115470 |
| Osteogenesis Imperfecta, Type Xv |
|
Bowing of limbs due to multiple fractures, Recurrent fractures, Joint hypermobility, Thin ribs |
OMIM:615220 |
| Branchiooculofacial Syndrome |
|
Single transverse palmar crease, Proximal placement of thumb, Micrognathia, Conductive hearing im... |
OMIM:113620 |
| Coffin-Siris Syndrome 1 |
|
Single transverse palmar crease, Conical tooth, Prominent interphalangeal joints, Short philtrum,... |
OMIM:135900 |
| Axenfeld-Rieger Syndrome |
|
Anal stenosis, Hypoplasia of the maxilla, Wide nasal bridge, Everted lower lip vermilion, Hypodon... |
ORPHA:782 |
| Oncogenic Osteomalacia |
|
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal foot morphology, Fibro... |
ORPHA:352540 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
| Mullegama-Klein-Martinez Syndrome |
|
Thin upper lip vermilion, Pes planus, Micrognathia, Cleft lip, Sensorineural hearing impairment, ... |
OMIM:301022 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Thin upper lip vermilion, Pes planus, Posteriorly rotated ears, Uplifted earlobe, Tapered finger,... |
OMIM:616734 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Tracheoesophageal fistula, Respiratory insufficiency, Intestinal atresia |
ORPHA:93941 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Intestinal malrotation, Pectus excavatum, Tachypnea, Esophageal varix, ... |
OMIM:613658 |
| Granulomatous Disease, Chronic, X-Linked |
|
Osteomyelitis, Atelectasis, Recurrent pneumonia, Air bronchogram, Rectal abscess, Cough, Pleural ... |
OMIM:306400 |
| Laryngotracheal Angioma |
|
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, High palate, Inspiratory stridor, Irregular respiration |
OMIM:604377 |
| Oculo-Palato-Cerebral Syndrome |
|
High, narrow palate, Asthma, Small hand, Cleft palate, Short foot, Thickened helices, Intrauterin... |
ORPHA:2714 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Recurrent fractures, Persistence of primary teeth, Pectus excavatum, Abnormality of the dentition... |
ORPHA:2785 |
| Menke-Hennekam Syndrome 1 |
|
Short ear, Micrognathia, Deep philtrum, Flexion contracture, Protruding ear, Cutaneous syndactyly... |
OMIM:618332 |
| Ablepharon Macrostomia Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Hypoplasia of the maxilla, Wide mouth, Thin vermilion bo... |
ORPHA:920 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure |
OMIM:614299 |
| Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
| Warburg-Cinotti Syndrome |
|
Dental crowding, Posteriorly rotated ears, Ankle flexion contracture, Pneumothorax, Elbow flexion... |
OMIM:618175 |
| Lethal Congenital Contracture Syndrome 5 |
|
Death in infancy, Flexion contracture, Respiratory insufficiency, Thin ribs, Congenital contracture |
OMIM:615368 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Nodular pattern on pulmonary HRCT, Hypermobility of distal interphalangeal joints, Periodontitis,... |
OMIM:130050 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Missing ribs, Rib fusion, Thin ribs, Short ribs, Pulmonary hyp... |
OMIM:271520 |
| Tetanus |
|
Respiratory distress, Trismus, Stiff neck, Tachypnea |
ORPHA:3299 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Osteomalacia, Abnormality of the dentition, Abnormality of the lower limb, Rickets, Hypophosphate... |
OMIM:193100 |
| Slc35A1-Cdg |
|
Respiratory distress, Hypoxemia, Pneumonia, Pulmonary hemorrhage |
ORPHA:238459 |
| Hypoglossia-Hypodactylia |
|
Micrognathia, Adactyly, Split hand, Aglossia, Narrow mouth, Microglossia, Retrognathia |
OMIM:103300 |
| Loeys-Dietz Syndrome 2 |
|
Micrognathia, Pectus carinatum, Abnormal sternum morphology, Bifid uvula, Joint laxity, Syndactyl... |
OMIM:610168 |
| Revesz Syndrome |
|
Abnormality of chromosome stability, Aplastic anemia, Bone marrow hypocellularity |
OMIM:268130 |
| Noonan Syndrome 1 |
|
Pectus excavatum of inferior sternum, Hearing impairment, Micrognathia, High, narrow palate, Sens... |
OMIM:163950 |
| Oromandibular Dystonia |
|
Respiratory distress, Abnormal lip morphology, Abnormal mandible morphology, Abnormality of the t... |
ORPHA:93958 |
| X-Linked Intellectual Disability, Armfield Type |
|
Mandibular prognathia, Micrognathia, Abnormality of the elbow, Small hand, Cleft palate, Short fo... |
ORPHA:85276 |
| Pseudo-Torch Syndrome 2 |
|
Pleural effusion, Acute respiratory distress syndrome, Respiratory insufficiency, Thin ribs |
OMIM:617397 |
| Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Small earlobe, Single transverse palmar crease, Prominent crus of helix, S... |
ORPHA:1449 |
| Renpenning Syndrome 1 |
|
Mandibular prognathia, Micrognathia, Narrow foot, Protruding ear, High palate, Short philtrum, De... |
OMIM:309500 |
| Renal, Genital, And Middle Ear Anomalies |
|
Hearing impairment, Abnormality of the middle ear ossicles |
OMIM:267400 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Narrow mouth, Flexion contracture, Thin ribs |
OMIM:614833 |
| Viss Syndrome |
|
Chronic gastritis, Micrognathia, High, narrow palate, Generalized joint laxity, Pectus carinatum,... |
OMIM:619472 |
| Tukel Syndrome |
|
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly |
OMIM:609428 |
| Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Sensorineu... |
ORPHA:209905 |
| Townes-Brocks Syndrome |
|
Anteriorly placed anus, Triphalangeal thumb, Clinodactyly of the 5th finger, Broad hallux phalanx... |
ORPHA:857 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Neonatal death, Abnormal pinna morphology, Pulmonary hypoplasia, Respiratory distress |
OMIM:231680 |
| Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory tract infec... |
ORPHA:308552 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Osteoporosis, Rickets, Death in adolescence, Death in childhood, Hearing impairment |
OMIM:560000 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Intrauterine growth retardation, Death in childhood |
OMIM:615597 |
| Infantile Krabbe Disease |
|
Respiratory distress, Prolonged brainstem auditory evoked potentials, Ankle clonus, Respiratory f... |
ORPHA:206436 |
| Angelman Syndrome |
|
Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, Macroglossia, Wi... |
OMIM:105830 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Cleft upper lip, Patent ductus arteriosus, Split hand, Clubbing, Cleft palate, Growth delay, Low-... |
OMIM:600460 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Micrognathia, Abnormal lung lobation, Posterior rib fusion, Neonatal death, Neonatal respiratory ... |
OMIM:265380 |
| Microtia With Meatal Atresia And Conductive Deafness |
|
Wide mouth, Aplasia/Hypoplasia of the middle ear, Microtia, Anotia, Conductive hearing impairment |
OMIM:251800 |
| Loeys-Dietz Syndrome 1 |
|
Joint laxity, Arachnodactyly, Eosinophilic infiltration of the esophagus, Micrognathia, Craniosyn... |
OMIM:609192 |
| Kabuki Syndrome 1 |
|
Joint dislocation, Congenital hip dislocation, Micrognathia, Protruding ear, High palate, Promine... |
OMIM:147920 |
| 1P36 Deletion Syndrome |
|
Conductive hearing impairment, Clinodactyly of the 5th finger, Abnormality of the anus, Low-set, ... |
ORPHA:1606 |
| Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
| Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Osteomalacia, Wrist swelling, Hip dislocation, Rickets, Genu valgum, Fin... |
OMIM:309000 |
| Fabry Disease |
|
Malabsorption, Dyspnea, Vertigo, Thick lower lip vermilion, Sensorineural hearing impairment, Abn... |
ORPHA:324 |
| Autosomal Dominant Cutis Laxa |
|
Osteopenia, Pes planus, Joint laxity, Wormian bones, Genu recurvatum, Delayed cranial suture clos... |
ORPHA:90348 |
| N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
OMIM:237310 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Rickets, Rachitic rosary |
OMIM:612089 |
| Cryptococcosis |
|
Respiratory distress, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Osteo... |
ORPHA:1546 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Tongue edema, Upper airway obstruction, Swollen lip |
ORPHA:100057 |
| Constricting Bands, Congenital |
|
Syndactyly, Cleft upper lip, Abnormal lung lobation, Cleft palate, Abnormal rib cage morphology, ... |
OMIM:217100 |
| Klippel-Trenaunay-Weber Syndrome |
|
Syndactyly, Hand oligodactyly, Macrodactyly, Hand polydactyly |
OMIM:149000 |
| Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Broad hallux, Posteriorly rotated ears, Hamartoma of tongue, Micr... |
OMIM:615948 |
| Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Anal stenosis, Congenital hip dislocation, Hearing im... |
OMIM:606170 |
| Pallister-Killian Syndrome |
|
Congenital hip dislocation, Tented upper lip vermilion, Single transverse palmar crease, Edema of... |
OMIM:601803 |
| Isolated Atp Synthase Deficiency |
|
Respiratory distress, Sensorineural hearing impairment |
ORPHA:254913 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sensorineural hearing imp... |
OMIM:220110 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure, Progressive hearing impairment |
OMIM:620166 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Epistaxis, Wheezing, Rickets, Fat malabsorption |
OMIM:211600 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Tympanosclerosis, Enamel hypoplasia, Malabsorption |
OMIM:240300 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress |
ORPHA:289916 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress |
ORPHA:79312 |
| Mercury Poisoning |
|
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure |
ORPHA:330021 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth... |
OMIM:305100 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
ORPHA:927 |
| Microphthalmia, Syndromic 6 |
|
Single transverse palmar crease, Uplifted earlobe, Micrognathia, Protruding ear, High palate, Cli... |
OMIM:607932 |
| Cystinosis, Nephropathic |
|
Metaphyseal widening, Rickets, Genu valgum, Hypophosphatemic rickets, Rachitic rosary |
OMIM:219800 |
| Riddle Syndrome |
|
Short stature, Chromosomal breakage induced by ionizing radiation, Recurrent sinusitis, Otitis me... |
ORPHA:420741 |
| Carnitine Deficiency, Systemic Primary |
|
Respiratory distress |
OMIM:212140 |
| Stt3B-Cdg |
|
Respiratory distress, Intrauterine growth retardation |
ORPHA:370924 |
| Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Abnormal dental morphology, Abnormality of the dentition, Hypoplasia of the maxilla, X... |
ORPHA:238468 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Pneumonia, Episodic tachypnea, Tachypnea, Anteriorly placed anus |
ORPHA:26793 |
| Treacher Collins Syndrome 2 |
|
Microretrognathia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, Microtia, Hypoplasi... |
OMIM:613717 |
| Acquired Methemoglobinemia |
|
Respiratory distress, Dyspnea, Vertigo, Hypoxemia |
ORPHA:464453 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Abnormal dental enamel morphology, Hearing impairment, Micrognathia, Dyspne... |
ORPHA:2556 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Joint laxity, Delayed cranial suture closure, Pyloric stenosis, Pneumothorax, Hip dislocation, Re... |
ORPHA:90349 |
| Celiac Disease, Susceptibility To, 1 |
|
Celiac disease, Osteoporosis, Rickets, Recurrent aphthous stomatitis, Steatorrhea, Stomatitis, En... |
OMIM:212750 |
| Congenital Tracheal Stenosis |
|
Respiratory distress, Abnormal stomach morphology, Neonatal asphyxia, Abnormal lung morphology, D... |
ORPHA:141127 |
| Aneurysm-Osteoarthritis Syndrome |
|
Joint laxity, Pes planus, Osteoarthritis of the small joints of the hand, Arachnodactyly, Camptod... |
ORPHA:284984 |
| Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Abnormality of the knee, Stapes ankylosis, Mixed hearing impairment, Calcif... |
ORPHA:51608 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension, High palate |
OMIM:619272 |
| Ramos-Arroyo Syndrome |
|
Respiratory distress, Aganglionic megacolon, Carious teeth, Xerostomia, Smooth tongue, Bilateral ... |
ORPHA:1051 |
| Pontine Tegmental Cap Dysplasia |
|
Ankle clonus, Aspiration, Sensorineural hearing impairment, Rib fusion |
OMIM:614688 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Flexion contracture, Esophageal varix, Respiratory insufficiency |
ORPHA:367 |
| Hartsfield Syndrome |
|
Syndactyly, Median cleft lip, Posteriorly rotated ears, Craniosynostosis, Cleft upper lip, Cleft ... |
OMIM:615465 |
| Scimitar Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Partial anomalo... |
ORPHA:185 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets, Bilateral sensorineural hearing impairment |
OMIM:602722 |
| Hypercholanemia, Familial 1 |
|
Fat malabsorption, Rickets, Steatorrhea |
OMIM:607748 |
| Nocardiosis |
|
Respiratory distress, Osteomyelitis, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, E... |
ORPHA:31204 |
| Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction |
ORPHA:97285 |
| Cocaine Intoxication |
|
Respiratory distress, Diffuse alveolar hemorrhage, Intestinal perforation, Hyperventilation, Whee... |
ORPHA:90068 |
| Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
| Congenital Enterovirus Infection |
|
Respiratory distress, Pleural effusion |
ORPHA:292 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Osteomyelitis, Gastritis, Pneumonia, Mala... |
ORPHA:37042 |
| Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Missing ribs, Esophageal atresia, Sensorineural hearing impairment, Rib fusion,... |
OMIM:206900 |
| Craniorachischisis |
|
Bifid sternum, Anal atresia, Sirenomelia |
ORPHA:63260 |
| Q Fever |
|
Respiratory distress, Osteomyelitis, Pneumonia, Abnormal pulmonary interstitial morphology, Cough... |
ORPHA:781 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Autoamputation of digits, Osteomyelitis leading to amputation due to slow h... |
OMIM:256810 |
| Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
| Popliteal Pterygium Syndrome |
|
Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Cutaneous finger syndactyly, Ta... |
OMIM:119500 |
| Toxic Epidermal Necrolysis |
|
Respiratory distress, Recurrent respiratory infections, Abnormal pleura morphology, Malabsorption... |
ORPHA:537 |
| Listeriosis |
|
Respiratory distress, Stiff neck, Miscarriage, Pneumonia, Osteomyelitis, Respiratory failure, Sep... |
ORPHA:533 |
| Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Flexion contracture |
OMIM:618201 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Dyspnea, Pulmonary edema |
OMIM:115197 |
| Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Rickets |
OMIM:613388 |
| Cystinosis |
|
Rickets, Malabsorption |
ORPHA:213 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Osteomyelitis, Duodenal ulcer, Gastritis, Bronchitis, Pneumonia, Osteomalacia, O... |
OMIM:619381 |
| Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
| Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea |
ORPHA:79242 |
| Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
| Loeys-Dietz Syndrome 3 |
|
Osteoarthritis, Knee osteoarthritis, Pectus carinatum, Abnormal sternum morphology, High palate, ... |
OMIM:613795 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Rickets |
OMIM:611590 |
| Pagod Syndrome |
|
Abnormal clavicle morphology, Death in infancy, Abnormal rib morphology, Pulmonary artery hypopla... |
ORPHA:991 |
| Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Movement abnormality of the tongue, Open mouth |
ORPHA:98805 |
| Myotonic Dystrophy 1 |
|
Respiratory distress |
OMIM:160900 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Coat hanger sign of ribs, Thoracic hypoplasia |
ORPHA:254534 |
| Holoprosencephaly 2 |
|
Aplasia of the premaxilla, Submucous cleft hard palate, Bilateral cleft lip and palate, Solitary ... |
OMIM:157170 |
| Nasolacrimal Duct Cyst |
|
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... |
ORPHA:141083 |
| Cloacal Exstrophy |
|
Intestinal malrotation, Abnormal tibia morphology, Hip dislocation, Absent foot, Abnormal fibula ... |
ORPHA:93929 |
| Eisenmenger Syndrome |
|
Respiratory distress, Increased pulmonary vascular resistance, Vertigo, Wheezing, Clubbing, Pedal... |
ORPHA:97214 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Hypopnea, Death in ... |
OMIM:618426 |
| Congenital Fibrosis Of Extraocular Muscles |
|
Congenital sensorineural hearing impairment, Hand oligodactyly |
ORPHA:45358 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Fat malabsorption, Rickets, Steatorrhea |
ORPHA:79303 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Recurrent fractures, Sensorineural hearing impairment, Rickets, Bilateral sensorineural hearing i... |
OMIM:268315 |
| Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
| Pmm2-Cdg |
|
Mandibular prognathia, Thin upper lip vermilion, Pes planus, Osteopenia, Multiple joint contractu... |
ORPHA:79318 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Stridor |
OMIM:615595 |
| Sotos Syndrome |
|
No permanent dentition, Flexion contracture, Pedal edema, Conductive hearing impairment, Chronic ... |
ORPHA:821 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress |
OMIM:251000 |
| Hereditary Angioedema Type 1 |
|
Respiratory distress, Tongue edema, Intestinal edema, Abnormal soft palate morphology, Dyspnea, A... |
ORPHA:100050 |
| Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Respira... |
OMIM:615512 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary embolism, Pulmonary arterial hypertension, Low-set ears, Stomatit... |
ORPHA:79282 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Abnormal p... |
OMIM:614748 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Intestinal malrotation, Pulmonary artery stenosis, Cervical ribs, Intrauter... |
ORPHA:2255 |
| Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Exaggerated cupid's bow, Aspiration, Downturned corners of mouth, Sk... |
ORPHA:2131 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Fat malabsorption, Rickets, Steatorrhea |
OMIM:607765 |
| Fanconi Renotubular Syndrome 1 |
|
Rickets, Osteomalacia |
OMIM:134600 |
| Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Osteomalacia |
OMIM:179800 |
| Meningioma |
|
Ear pain, Tinnitus, Neoplasm of the tongue, Chromosomal breakage induced by ionizing radiation |
ORPHA:2495 |
| Plague |
|
Respiratory distress, Chapped lip, Abnormality of the elbow, Enterocolitis, Acute infectious pneu... |
ORPHA:707 |
| Rodrigues Blindness |
|
Tooth malposition, Nasal flaring, Protruding ear |
OMIM:268320 |
| Wilson Disease |
|
Osteomalacia, Joint hypermobility, Osteoarthritis, Esophageal varix, Osteoporosis, Pedal edema, C... |
OMIM:277900 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Apnea, Macroglossia, Pleural effusion, Pulmonary edema |
OMIM:261740 |
| Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion... |
ORPHA:340 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla |
ORPHA:3044 |
| Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... |
OMIM:164310 |
| Complete Atrioventricular Septal Defect |
|
Intercostal retractions, Crackles, Wheezing, Recurrent pneumonia, Tachypnea, Elevated pulmonary a... |
ORPHA:1329 |
| Ethylene Glycol Poisoning |
|
Gastritis, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration, Pulmonary e... |
ORPHA:31826 |
| Biotinidase Deficiency |
|
Respiratory distress, Apnea, Hearing impairment, Sensorineural hearing impairment, Hyperventilation |
ORPHA:79241 |
| Distal Renal Tubular Acidosis |
|
Osteomalacia, Respiratory insufficiency due to muscle weakness, Sensorineural hearing impairment,... |
ORPHA:18 |
| Inhalational Anthrax |
|
Respiratory distress, Dyspnea |
ORPHA:247257 |
| Alström Syndrome |
|
Respiratory distress, Thoracic scoliosis, Abnormality of dental color, Gingivitis, Otitis media, ... |
ORPHA:64 |
| Sepsis In Premature Infants |
|
Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Abnormal respiratory system physiology, E... |
ORPHA:90051 |
| Fanconi-Bickel Syndrome |
|
Rickets, Osteomalacia, Malabsorption |
OMIM:227810 |
| Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, D... |
ORPHA:210122 |
| Isolated Arrhinia |
|
Respiratory distress, Microtia, Hypoplasia of the nasal bone, Aplasia of the nose |
ORPHA:1134 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Osteomalacia, Peptic ulcer, Chondrocalcinosis |
OMIM:600740 |
| Proboscis Lateralis |
|
Aplasia/Hypoplasia of the maxilla, Abnormal paranasal sinus morphology, Agenesis of canine, Abnor... |
ORPHA:141099 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Rickets |
OMIM:616026 |
| Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress |
OMIM:251110 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
Thin upper lip vermilion, Anal stenosis, Hypoplasia of the maxilla, Wide nasal bridge, Oligodonti... |
OMIM:180500 |
| Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress |
OMIM:251100 |
| Tuberous Sclerosis Complex |
|
Respiratory tract infection, Respiratory failure, Respiratory distress, Pulmonary lymphangiomyoma... |
ORPHA:805 |
| Gitelman Syndrome |
|
Respiratory distress, Vertigo, Gout, Tinnitus, Chondrocalcinosis |
ORPHA:358 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Chronic lung disease, P... |
ORPHA:95455 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteomalacia, Rickets, Osteoporosis, Colitis, Steatorrhea |
ORPHA:309031 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:99125 |
| Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemic rickets, Osteomalacia, Pulmonary fibrosis, Increased susceptibility to fractures |
ORPHA:3337 |
| Aortic Arch Interruption |
|
Respiratory distress, Tachypnea, Pedal edema, Aortopulmonary window, Exertional dyspnea |
ORPHA:2299 |
| Colchicine Poisoning |
|
Respiratory distress, Cardiorespiratory arrest |
ORPHA:31824 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Intrauterine growth retardation, Death in infancy |
OMIM:617156 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Dyspnea, Sensorineural hearing impairment, Episodic respiratory distress, Hyperventilation |
ORPHA:255210 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress |
OMIM:274150 |
| Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Abnormal cartilage morphology, Bone cyst, Osteolysis |
ORPHA:2396 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
| Aprosencephaly Syndrome |
|
Hand oligodactyly |
OMIM:207770 |
| Infantile Nephropathic Cystinosis |
|
Rickets |
ORPHA:411629 |
| Familial Hypocalciuric Hypercalcemia |
|
Osteomalacia, Peptic ulcer, Chondrocalcinosis |
ORPHA:405 |
| Leptospirosis |
|
Respiratory distress, Pleural effusion, Cough, Pulmonary hemorrhage |
ORPHA:509 |
| Kasabach-Merritt Syndrome |
|
Respiratory distress, Hypopnea |
ORPHA:2330 |
