Multiple Epiphyseal Dysplasia, Lowry Type |
|
Knee flexion contracture, Genu valgum, Abnormal sternum morphology, Rhizomelia, Fixed elbow flexi... |
ORPHA:166016 |
Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Pectus excavatum, ... |
OMIM:607778 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Lytic de... |
OMIM:601376 |
Eiken Syndrome |
|
Short phalanx of finger, Broad foot, Thin bony cortex, Abnormal trabecular bone morphology, Narro... |
ORPHA:79106 |
Brachydactyly, Type A1, D |
|
Short distal phalanx of the 2nd finger, Short middle phalanx of the 5th finger, Clinodactyly of t... |
OMIM:616849 |
Acromesomelic Dysplasia 2A |
|
Short tibia, Short phalanx of finger, Flexion contracture, Aplasia/Hypoplasia involving the metac... |
OMIM:200700 |
Leri-Weill Dyschondrosteosis |
|
Short tibia, Short 4th metacarpal, Abnormal carpal morphology, Coxa valga, Increased carrying ang... |
OMIM:127300 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Rhizomelia, Short femoral neck, Wide distal femoral metaphysis, Hip dysplasia, Limitation of join... |
OMIM:619598 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Short 4th metacarpal, Depressed nasal ridge, Short long bone, Epiphyseal stippling, ... |
OMIM:118651 |
Metaphyseal Acroscyphodysplasia |
|
Short phalanx of finger, Coxa valga, Wide nasal bridge, Narrow pelvis bone, Short palm, Short toe... |
OMIM:250215 |
Osebold-Remondini Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Dec... |
OMIM:112910 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Limited elbow extension, Flattened femoral head, Hip dysplasia, Abnormal hip joint morphology, Ir... |
ORPHA:1856 |
Robin Sequence-Oligodactyly Syndrome |
|
Micrognathia, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Hand oligodactyly, ... |
ORPHA:3104 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Wide nose, Hyperlordosis, Genu valgum, Mandibular prognathia, Rhizomelia, Coxa vara, Short metaca... |
ORPHA:2831 |
Femoral-Facial Syndrome |
|
Micrognathia, Short femur, Abnormal rib morphology, Cleft palate, Talipes equinovarus, Orofacial ... |
ORPHA:1988 |
Atelosteogenesis, Type I |
|
Thoracic hypoplasia, Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Elbo... |
OMIM:108720 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Thin bony cortex, Broad tibial metaphyses, Increased bone mineral density, Broad femoral head, Fi... |
ORPHA:85188 |
Fibrochondrogenesis 1 |
|
Dumbbell-shaped long bone, Thoracic hypoplasia, Camptodactyly, Short neck, Cleft palate, Short pa... |
OMIM:228520 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormality of fibula morphology, Depressed nasal ridge, Microdontia, Abnormality of dental morph... |
ORPHA:1837 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Hyperlordosis, Kyphosis, Vertebral wedging, Depressed nasal bridge, Ovoid vertebral bodies, Scoli... |
ORPHA:40 |
Omodysplasia 2 |
|
Rhizomelic arm shortening, Broad femoral neck, Anterior wedging of T11, Long philtrum, Short 1st ... |
OMIM:164745 |
Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Vertebral segmentation defect, Abnormality of the humerus, Abnor... |
ORPHA:1570 |
Brachydactyly Type A1 |
|
Short foot, Clinodactyly of the 5th finger, Hypoplasia of the ulna, Short hallux, Distal symphala... |
ORPHA:93388 |
Faciocardiomelic Dysplasia, Lethal |
|
Retrognathia, Radial deviation of the hand, Short 5th finger, Hypoplasia of the radius, Micrognat... |
OMIM:227270 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 2nd finger, Flat capital femoral epiphysis, Shortening of all middle ... |
OMIM:271700 |
Langer Mesomelic Dysplasia |
|
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Micrognathia, Radial bowin... |
OMIM:249700 |
Acrodysostosis |
|
Wide nasal bridge, Delayed eruption of teeth, Epiphyseal stippling, Abnormal form of the vertebra... |
ORPHA:950 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Shoulder dislocation, Genu varum, Aplasia/Hypoplasia of the thumb, Long philtrum, Asymmetric radi... |
OMIM:171480 |
Lethal Faciocardiomelic Dysplasia |
|
Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Microretrognathia, Hyp... |
ORPHA:1972 |
Acromesomelic Dysplasia 2C |
|
Short tibia, Short foot, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip disloc... |
OMIM:201250 |
Metaphyseal Anadysplasia |
|
Abnormal ulnar metaphysis morphology, Joint stiffness, Abnormality of the lower limb, Abnormal mo... |
ORPHA:1040 |
Ophthalmomandibulomelic Dysplasia |
|
Radioulnar dislocation, Coxa valga, Temporomandibular joint ankylosis, Radial bowing, Ulnar devia... |
OMIM:164900 |
Brachydactyly, Type C |
|
Hypersegmentation of proximal phalanx of third finger, Short middle phalanx of the 2nd finger, Tr... |
OMIM:113100 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Epiphyseal stippling, Short humerus, Rhizomelia, Short femur |
OMIM:600121 |
Léri-Weill Dyschondrosteosis |
|
Short tibia, Abnormal carpal morphology, Wide nasal bridge, Elbow dislocation, Madelung deformity... |
ORPHA:240 |
Congenital Radioulnar Synostosis |
|
Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab... |
ORPHA:3269 |
Fibular Hemimelia |
|
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... |
ORPHA:93323 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Rhizomelia, Coxa vara, Short metacarpal, Brachydactyly, Platyspondyly, Short metatarsal, Deformed... |
OMIM:601438 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Metaphyseal irregularity, Osteoporotic tarsals, Coxa valga, Sclerotic humeral metaphysis, Metaphy... |
OMIM:609052 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Short tubular bones of the hand, Limb undergrowth, Metaphyseal cupping of proximal phalanges, Lum... |
ORPHA:174 |
Acromesomelic Dysplasia, Grebe Type |
|
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... |
ORPHA:2098 |
Boomerang Dysplasia |
|
Aplasia/Hypoplasia of the fibula, Abnormal bone ossification, Finger syndactyly, Narrow chest, Ab... |
ORPHA:1263 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Hip dislocation, Metatarsal synostosis, 2-3 toe cutaneous syndactyly, Postaxial h... |
OMIM:206920 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Metaphyseal irregularity, Metaphyseal cupping, Contractures of the large joints, Coxa vara, Short... |
OMIM:616716 |
Pseudoachondroplasia |
|
Short phalanx of finger, Irregular carpal bones, Limb undergrowth, Irregular acetabular roof, Lim... |
ORPHA:750 |
Cleidorhizomelic Syndrome |
|
Rhizomelia, Short middle phalanx of the 5th finger, Clinodactyly of the 5th finger, Bilateral sin... |
ORPHA:1453 |
Kyphomelic Dysplasia |
|
Thoracic hypoplasia, Micrognathia, Short femur, Lateral clavicle hook, Cleft palate, Talipes equi... |
OMIM:211350 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Short tibia, 11 pairs of ribs, Triphalangeal thumb, Prominent nose, Wide anterior fontanel, Wide ... |
OMIM:201170 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Short 4th metacarpal, Short 5th metacarpal, Abnormality of the e... |
ORPHA:1350 |
Syndactyly Type 2 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S... |
ORPHA:93403 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Metaphyseal irregularity, Irregular vertebral endplates, Tapered finger, Patellar dislocation, Sh... |
OMIM:618395 |
Weismann-Netter Syndrome |
|
Kyphosis, Abnormality of the humerus, Tibial bowing, Abnormal cortical bone morphology, Femoral b... |
ORPHA:3344 |
3M Syndrome |
|
Horizontal ribs, Enlarged thorax, Delayed eruption of teeth, Everted lower lip vermilion, Short n... |
ORPHA:2616 |
Syndactyly Type 4 |
|
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... |
ORPHA:93405 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the philtrum, Finger syndactyly, Abnormality of the elbow, Clinodactyly of the 5th... |
ORPHA:3268 |
Seckel Syndrome 1 |
|
Convex nasal ridge, Selective tooth agenesis, Micrognathia, Elbow flexion contracture, Hip disloc... |
OMIM:210600 |
Thiemann Disease |
|
Short phalanx of finger, Broad phalanx |
OMIM:165700 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Talipes equinovarus, Radioulnar synostosis, Microretrognathia, Abnormal pelvic... |
ORPHA:1788 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Short tibia, Absent thumb, Supernumerary ribs, Short femur, Hypoplasia of the ulna, Narrow mouth,... |
OMIM:612447 |
Metatropic Dysplasia |
|
Flexion contracture, Flared iliac wing, Long coccyx, Narrow greater sciatic notch, Arthrogryposis... |
OMIM:156530 |
Atelosteogenesis, Type Ii |
|
Thoracic hypoplasia, Micrognathia, Short neck, Limb undergrowth, Lacunar halos around chondrocyte... |
OMIM:256050 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Synostosis of carpal bones, Ulnar deviation of finger, Hypoplasia of the ulna, Elbow dislocation,... |
ORPHA:2634 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Horizontal ribs, Bifid tongue, Thoracic hypoplasia, Lateral clavicle hook, Cleft palate, Talipes ... |
OMIM:613091 |
Acro-Renal-Mandibular Syndrome |
|
Micrognathia, Butterfly vertebrae, Hip dislocation, Short neck, Rudimentary to absent tibiae, Oro... |
ORPHA:958 |
Femur-Fibula-Ulna Complex |
|
Finger syndactyly, Humeroradial synostosis, Abnormality of the elbow, Abnormal morphology of ulna... |
ORPHA:2019 |
Thiemann Disease, Familial Form |
|
Abnormal metaphysis morphology, Abnormal epiphysis morphology, Limitation of joint mobility, Brac... |
ORPHA:3314 |
Mental Retardation Syndrome, Mietens-Weber Type |
|
Elbow flexion contracture, Dislocated radial head, Narrow nose, Forearm undergrowth, Pes planus, ... |
OMIM:249600 |
Multiple Synostoses Syndrome 1 |
|
Thick upper lip vermilion, 2-3 toe syndactyly, Wide nasal bridge, Pectus excavatum, Dislocated ra... |
OMIM:186500 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Conductive hearing impairment, Midface retrusion, Pectus excavatum, Spina bifida occulta, Everted... |
OMIM:617877 |
Atelosteogenesis Type Ii |
|
Short phalanx of finger, Thoracic hypoplasia, Ulnar deviation of the hand or of fingers of the ha... |
ORPHA:56304 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Irregular vertebral endplates, Flexion contracture, Rhizomelia, Wide nasal bridge, High palate, M... |
OMIM:222765 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Vertebral segmentation defect, Hypoplasia of the odontoid process, Supernumerary verteb... |
OMIM:609813 |
Acromicric Dysplasia |
|
Fifth metacarpal with ulnar notch, Short metacarpal, Small hand, Thick lower lip vermilion, Long ... |
ORPHA:969 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Hip dysplasia, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Abnormal pelvic gi... |
ORPHA:2370 |
Cenani-Lenz Syndrome |
|
Convex nasal ridge, Toe syndactyly, Hip dislocation, Elbow dislocation, Abnormal rib morphology, ... |
ORPHA:3258 |
Spondyloepiphyseal Dysplasia Congenita |
|
Micrognathia, Short femur, Short neck, Aplasia/hypoplasia involving bones of the extremities, Cle... |
ORPHA:94068 |
Campomelic Dysplasia |
|
Micrognathia, Hypoplastic inferior ilia, Hip dislocation, Short neck, Cleft palate, Talipes equin... |
ORPHA:140 |
Brachydactyly, Type A1, C |
|
Short middle phalanx of the 4th finger, Short middle phalanx of the 5th finger, Short middle phal... |
OMIM:615072 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Limited elbow flexion, Short metacarpal, Double-layered patella, Hip dysplasia, Flat capital femo... |
OMIM:226900 |
Saul-Wilson Syndrome |
|
Convex nasal ridge, Coxa valga, Micrognathia, Pectus excavatum, Hypoplasia of proximal fibula, Ma... |
OMIM:618150 |
Langer Mesomelic Dysplasia |
|
Aplasia/Hypoplasia of the fibula, Mesomelic/rhizomelic limb shortening, Abnormal carpal morpholog... |
ORPHA:2632 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Genu varum, Metaphyseal irregularity, Coxa vara, Short femoral neck, Hypoplasia of the odontoid p... |
OMIM:184255 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Delayed ossification of pubic rami, Rhizomelia, High palate, Micrognathia, Joint contracture, Hip... |
OMIM:602471 |
Carpenter Syndrome 1 |
|
Brachycephaly, Deviation of finger, Conductive hearing impairment, Coxa valga, Lateral displaceme... |
OMIM:201000 |
Achondroplasia |
|
Spinal stenosis with reduced interpedicular distance, Severe platyspondyly, Thoracic hypoplasia, ... |
OMIM:100800 |
Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Coxa valga, Patellar dislocation, Finger syndactyly, Tibial torsion, Fused cervical v... |
ORPHA:3320 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Thoracic hypoplasia, Ulnar deviation of the hand or of fingers of the hand, Micrognathia, Short n... |
OMIM:602613 |
Cenani-Lenz Syndactyly Syndrome |
|
Enamel hypoplasia, Hypoplasia of the radius, Micrognathia, Hypodontia, Radioulnar synostosis, Hyp... |
OMIM:212780 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Polydactyly, High palate, Median cleft lip, Syndactyly, Broad nasal tip, Bifid nasal... |
OMIM:300484 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Short tibia, Short phalanx of finger, Hip subluxation, Cleft mandible, Short 5th finger, Microgna... |
OMIM:268305 |
Brachydactyly, Type A1 |
|
Aplasia/Hypoplasia of the middle phalanges of the toes, Flattened metatarsal heads, Short metacar... |
OMIM:112500 |
Ruvalcaba Syndrome |
|
Short phalanx of finger, Downslanted palpebral fissures, Underdeveloped nasal alae, Short foot, S... |
OMIM:180870 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flexion contracture, Thoracic hypoplasia, Wide nasal bridge, Micrognathia, Short femur, Multiple ... |
OMIM:616897 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... |
ORPHA:3329 |
Eiken Syndrome |
|
Pseudoepiphyses, Narrow pelvis bone, Flattened epiphysis, Delayed epiphyseal ossification, Erupti... |
OMIM:600002 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Synostosis of carpal bones, Abnormal morphology of the radius, ... |
ORPHA:2639 |
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
|
Short 1st metacarpal, Broad middle phalanx of finger, Delayed ossification of carpal bones, Clino... |
OMIM:182255 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Increased intervertebral space, Short ribs, Short long bone, Coarse metaphyseal trabecularization... |
OMIM:618961 |
Angioosteohypotrophic Syndrome |
|
Thin bony cortex, Upper limb undergrowth, Abnormal foot morphology, Hypoplasia of the radius, Apl... |
ORPHA:75508 |
Holt-Oram Syndrome |
|
Triphalangeal thumb, Absent thumb, Limited elbow extension, Abnormal carpal morphology, Hypoplasi... |
OMIM:142900 |
Orofaciodigital Syndrome Type 10 |
|
Short tibia, Cleft soft palate, Micrognathia, Metatarsal synostosis, Short neck, Hypoplasia of pr... |
ORPHA:2756 |
Microphthalmia With Limb Anomalies |
|
Short tibia, Toe syndactyly, Micrognathia, Hip dislocation, Elbow dislocation, Postaxial hand pol... |
ORPHA:1106 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Conductive hearing impairment, Reduced proximal interphalangeal joint space, Abnormal palmar derm... |
ORPHA:3246 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Conductive hearing impairment, Wide nasal bridge, Micrognathia, Camptodactyly, Butterfly vertebra... |
OMIM:611209 |
Ritscher-Schinzel Syndrome 3 |
|
Short first metatarsal, Short 1st metacarpal, Wide anterior fontanel, Death in infancy, Micrognat... |
OMIM:619135 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short tibia, Wide nose, Rhizomelia, Short ribs, Hypoplasia of the radius, Butterfly vertebrae, Sh... |
OMIM:607143 |
Multiple Metaphyseal Dysplasia |
|
Hyperlordosis, Aplasia/Hypoplasia of the thumb, Depressed nasal ridge, Abnormal metaphysis morpho... |
ORPHA:93430 |
Radioulnar Synostosis, Unilateral, With Developmental Retardation And Hypotonia |
|
Dislocated radial head, Radioulnar synostosis, Prominent nose |
OMIM:266255 |
Sugarman Brachydactyly |
|
Symphalangism affecting the proximal phalanges of the hand, Short proximal phalanx of finger, Pro... |
OMIM:272150 |
Dysspondyloenchondromatosis |
|
Metaphyseal enchondromatosis, Genu valgum, Generalized joint laxity, Vertebral segmentation defec... |
ORPHA:85198 |
Mesomelic Dysplasia, Nievergelt Type |
|
Sacral dimple, Camptodactyly of finger, Genu valgum, Genu varum, Finger syndactyly, Radioulnar sy... |
ORPHA:2633 |
Odontochondrodysplasia |
|
Retrognathia, Dentinogenesis imperfecta, Coxa valga, Abnormal metaphysis morphology, Death in inf... |
ORPHA:166272 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Delayed cranial suture closure, Bifid tongue, Wide nasal bridge, Micrognathia, Midface retrusion,... |
OMIM:268310 |
Ulnar Hemimelia |
|
Sclerotic forearm bones, Aplasia of metacarpal bones, Humeroradial synostosis, Abnormal 3rd metac... |
ORPHA:93320 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia, Pectus excavatum |
OMIM:607278 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Short phalanx of finger, Broad femoral neck, Genu valgum, Irregular vertebral endplates, Avascula... |
OMIM:132400 |
Codas Syndrome |
|
Short phalanx of finger, Atrioventricular canal defect, Conductive hearing impairment, Delayed er... |
OMIM:600373 |
Van Bogaert-Hozay Syndrome |
|
Osteolytic defects of the phalanges of the hand, Micrognathia, Distal ulnar hypoplasia, Depressed... |
OMIM:277150 |
Rhizomelic Syndrome, Urbach Type |
|
Triphalangeal thumb, Abnormality of the knee, Preaxial hand polydactyly, High palate, Rhizomelia,... |
ORPHA:3098 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Polydactyly, Abnormal thorax morphology, Upper limb phocomelia, Syndactyly, Stillbirth, Abnormali... |
ORPHA:294975 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal enchondral ossification, Kyphosis, Narrow chest, Halberd-shaped... |
ORPHA:2635 |
Brachydactyly, Type A3 |
|
Rhomboid or triangular shaped 5th finger middle phalanx, Short middle phalanx of the 5th finger, ... |
OMIM:112700 |
Poland Syndrome |
|
Unilateral oligodactyly, Short ribs, Unilateral brachydactyly, Hypoplasia of deltoid muscle, Synd... |
OMIM:173800 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Dental malocclusion, Metaphyseal irregularity, Metaphyseal cupping, Severe platyspondyly, Coxa va... |
OMIM:608940 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Pedal edema, Flattened femoral head, Low back pain, Flat capital femoral epiphysis, Thoracic plat... |
ORPHA:166011 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the fibula, Abnormality of the upper limb, Finger syndactyly, Clinodactyly ... |
ORPHA:2141 |
Kyphomelic Dysplasia |
|
Short thorax, Anterior rib cupping, Micrognathia, Missing ribs, Flat acetabular roof, Limitation ... |
ORPHA:1801 |
Hypochondroplasia |
|
Hyperlordosis, Short toe, Genu varum, Abnormality of the elbow, Osteoarthritis, Spinal canal sten... |
ORPHA:429 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Camptodactyly of finger, Retrognathia, Vertebral segmentation defect, Abnormal metacarpal morphol... |
ORPHA:2631 |
Acromicric Dysplasia |
|
Short phalanx of finger, Short foot, Short metacarpal, Short long bone, Fifth metacarpal with uln... |
OMIM:102370 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short phalanx of finger, Wide nasal bridge, Toe syndactyly, Micrognathia, Flared iliac wing, Apla... |
OMIM:609945 |
Odontochondrodysplasia 1 |
|
Short phalanx of finger, Delayed eruption of teeth, Flared iliac wing, Pulmonary hypoplasia, Genu... |
OMIM:184260 |
Atelosteogenesis Type I |
|
Absent or minimally ossified vertebral bodies, Thoracic hypoplasia, Abnormal ossification involvi... |
ORPHA:1190 |
Hypochondroplasia |
|
Widened interpedicular distance, Genu varum, Short femoral neck, Short long bone, Brachydactyly, ... |
OMIM:146000 |
Weill-Marchesani Syndrome 2 |
|
Brachycephaly, Thin bony cortex, Elbow flexion contracture, Ascending aortic dissection, Delayed ... |
OMIM:608328 |
Anauxetic Dysplasia 2 |
|
Hyperlordosis, Flexion contracture, Coxa valga, Coxa vara, Short femoral neck, Posterior wedging ... |
OMIM:617396 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Beaking of vertebral bodies, Narrow greater sciatic notch, Mesomelic arm shortening, Lumbar hyper... |
OMIM:609616 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Intervertebral space narrowing, Short femoral neck, Kyphosis, Squared-off platyspondyl... |
OMIM:271530 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Convex nasal ridge, Micrognathia, Long thorax, Abnormal palate morphology, Tooth agenesis, Mesome... |
ORPHA:1277 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the radius, Ulnar deviation of finger, Hypoplasia of the ulna, Metatarsus adductus,... |
ORPHA:2249 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Short 5th finger, Small hand, High palate, Clinodactyly, Short nose, Cubitus valgus, Short foot, ... |
OMIM:300577 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Patellar dislocation, Wide nasal bridge, Micrognathia, Limb undergrowth, Limited elbow extension,... |
OMIM:614078 |
Familial Digital Arthropathy-Brachydactyly |
|
Osteoarthritis of the small joints of the hand, Shortening of all middle phalanges of the toes, S... |
ORPHA:85169 |
Metaphyseal Acroscyphodysplasia |
|
Short toe, Genu varum, Coxa valga, Depressed nasal ridge, Wide nasal bridge, Cone-shaped metacarp... |
ORPHA:1240 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Radial club hand, Abnormal nostril morphology, Long philtrum, De... |
ORPHA:2878 |
Brachydactyly Type A2 |
|
Short foot, Short middle phalanx of the 5th finger, Clinodactyly of the 5th finger, Type A2 brach... |
ORPHA:93396 |
Ulnar Hypoplasia With Mental Retardation |
|
Bilateral ulnar hypoplasia, Talipes equinovarus, Limited elbow movement, Limitation of knee mobility |
OMIM:276821 |
Osteogenesis Imperfecta, Type X |
|
Thin bony cortex, Thoracic hypoplasia, Micrognathia, Short femur, Fibular bowing, Dentinogenesis ... |
OMIM:613848 |
Microcephaly-Micromelia Syndrome |
|
Short tibia, Wide nose, Absent thumb, Convex nasal ridge, Humeroradial synostosis, Micrognathia, ... |
OMIM:251230 |
Acromesomelic Dysplasia 2B |
|
Short phalanx of finger, Deviation of finger, Malaligned carpal bone, Patellar dislocation, Rhizo... |
OMIM:228900 |
Pseudoachondroplasia |
|
Short phalanx of finger, Atlantoaxial dislocation, Irregular carpal bones, Limited elbow extensio... |
OMIM:177170 |
Autosomal Dominant Omodysplasia |
|
Rhizomelia, Patellar dislocation, Short 1st metacarpal, Long philtrum, Micrognathia, Short nose, ... |
ORPHA:93328 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Flared iliac wing, Absent epiphyses of the phalanges of the hand... |
ORPHA:93314 |
Short Rib-Polydactyly Syndrome |
|
Short tibia, Polydactyly, Absent or minimally ossified vertebral bodies, Horizontal ribs, Thoraci... |
ORPHA:1505 |
Acrocapitofemoral Dysplasia |
|
Hyperlordosis, Genu varum, Short thorax, Coxa vara, Flared iliac wing, Cone-shaped metacarpal epi... |
ORPHA:63446 |
Van Den Ende-Gupta Syndrome |
|
Convex nasal ridge, Tapered finger, Hallux valgus, Micrognathia, Elbow flexion contracture, Slend... |
OMIM:600920 |
Bent Bone Dysplasia Syndrome 2 |
|
Short tibia, Hypoplastic acetabulae, Butterfly vertebrae, Short neck, Arthrogryposis multiplex co... |
OMIM:620076 |
Schneckenbecken Dysplasia |
|
Dumbbell-shaped long bone, Hypoplastic ilia, Short ribs, Narrow chest, Diaphyseal thickening, Inc... |
ORPHA:3144 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Irregular sclerotic endplates, Genu varum, Flared, irregular rib ends, Metaphyseal cupping, Pear-... |
OMIM:602111 |
Thanatophoric Dysplasia Type 1 |
|
Hypoplastic ilia, Kyphosis, Wide anterior fontanel, Micromelia, Short femur, Femoral bowing, Brac... |
ORPHA:1860 |
Brachydactyly, Type A1, B |
|
Broad distal hallux, Short 5th metacarpal, Clinodactyly, Cone-shaped epiphyses of the phalanges o... |
OMIM:607004 |
Acrorenal Syndrome |
|
Micrognathia, Abnormal morphology of ulna, Abnormality of tibia morphology, Aplasia/Hypoplasia of... |
ORPHA:971 |
Desbuquois Dysplasia 1 |
|
Broad first metatarsal, Coxa valga, Advanced ossification of carpal bones, Proximal fibular overg... |
OMIM:251450 |
Digital Arthropathy-Brachydactyly, Familial |
|
Short middle phalanx of toe, Brachytelomesophalangy, Short distal phalanx of toe, Radial deviatio... |
OMIM:606835 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Skewfoot, Broad foot, Flexion contracture, Micrognathia, Elbow flexion contracture, Stiff ankle, ... |
ORPHA:93307 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the fibula, Finger syndactyly, Wide nasal bridge, Short long bone, Microgna... |
ORPHA:2256 |
Weill-Marchesani Syndrome 1 |
|
Brachycephaly, Thin bony cortex, Lumbar hyperlordosis, Broad phalanges of the hand, Narrow palate... |
OMIM:277600 |
Mesomelic Dysplasia, Savarirayan Type |
|
Metatarsus valgus, Broad tibial metaphyses, Flared radial metaphysis, Hip dislocation, Elbow disl... |
ORPHA:85170 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Dumbbell-shaped long bone, Rhizomelia, Glossoptosis, Micrognathia, Femoral bowing, Short femur, B... |
ORPHA:440354 |
Becker Nevus Syndrome |
|
Kyphosis, Supernumerary ribs, Pectus excavatum, Spina bifida occulta, Upper limb asymmetry, Abnor... |
ORPHA:64755 |
Autosomal Recessive Robinow Syndrome |
|
Camptodactyly of finger, Bifid tongue, Wide nasal bridge, Ectopic anus, Toe syndactyly, Micrognat... |
ORPHA:1507 |
Tetrasomy X |
|
Hip dysplasia, Radioulnar synostosis, Clinodactyly of the 5th finger, Joint hyperflexibility, Bra... |
ORPHA:9 |
Kinsship Syndrome |
|
Polydactyly, Coxa valga, Micrognathia, Hip dislocation, Cervical ribs, Dislocated radial head, Sh... |
OMIM:619297 |
Brachydactyly Type A7 |
|
Broad distal phalanx of the thumb, 2-3 toe syndactyly, Short middle phalanx of the 5th toe, Hallu... |
ORPHA:93397 |
Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Genu varum, Pear-shaped vertebrae, Coxa vara, Rhizomelia, Short femoral neck, Decreased hip abduc... |
OMIM:183849 |
Split-Hand/Foot Malformation 2 |
|
Short phalanx of finger, Finger syndactyly, Short metacarpal, Split foot, Split hand |
OMIM:313350 |
Ivic Syndrome |
|
Absent thumb, Short femur, Short 1st metacarpal, Carpal synostosis, Carpal bone hypoplasia, Hypop... |
OMIM:147750 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Wide nose, Long philtrum, Micrognathia, Clinodactyly, Hypoplasia of the ulna, Everted lower lip v... |
ORPHA:357175 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Wide nose, Long philtrum, Micrognathia, Clinodactyly, Hypoplasia of the ulna, Everted lower lip v... |
OMIM:615162 |
Campomelic Dysplasia |
|
Short phalanx of finger, Irregular dentition, Thoracic hypoplasia, Hallux valgus, Micrognathia, H... |
OMIM:114290 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Short phalanx of finger, Shoulder dislocation, Camptodactyly of finger, Flexion contracture, Dela... |
OMIM:143095 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Genu varum, Convex nasal ridge, High palate, Long philtrum, Wide nasal bridge, Short thorax, Thic... |
OMIM:619451 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Absent dorsal skin creases over affected joints, Patellar dislocation, Triangular shaped phalange... |
OMIM:618167 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Sparse eyebrow, Entropion, Kyphosis, Micrognathia, Thin eyebrow, Clinodactyly, Pectus excavatum, ... |
OMIM:609944 |
Mietens Syndrome |
|
Wide nose, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Coxa vara, Wide nasal... |
ORPHA:2557 |
Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Abnormal cortical bone morphology, Craniofacial hyperostosis, Generalized ... |
ORPHA:2790 |
Maxillonasal Dysplasia, Binder Type |
|
Vertebral clefting, Dental malocclusion, Patchy distortion of vertebrae, Short nose, Short colume... |
OMIM:155050 |
Multiple Synostoses Syndrome |
|
Symphalangism affecting the phalanges of the hand, Bilateral single transverse palmar creases, Br... |
ORPHA:3237 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Short 5th finger, Short foot, Brachydactyly, Postaxial oligodac... |
ORPHA:52056 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short tibia, Horizontal ribs, Micrognathia, Short neck, Lateral clavicle hook, Cleft palate, Narr... |
OMIM:617925 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Short tibia, Horizontal ribs, Bifid tongue, Unicoronal synostosis, Cleft palate, Narrow greater s... |
OMIM:616300 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Broad foot, Abnormal carpal morphology, Abnormal rib morphology, Abnormal metaphysis morphology, ... |
ORPHA:93351 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Abnormality of the elbow, Abnormality of the wrist, Split hand, Micromelia, Postaxial hand polyda... |
ORPHA:2491 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Vertebral clefting, 2-3 toe syndactyly, Stapes ankylosis, Brachycephaly, Skull asymmetry, Wide na... |
OMIM:614701 |
Brachydactyly, Type A2 |
|
2-3 toe syndactyly, Triangular shaped middle phalanx of the 2nd finger, Hallux valgus, Short midd... |
OMIM:112600 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Coxa valga, Micrognathia, Increased bone mineral density, Short neck, Ovoid vertebral bodies, Fla... |
ORPHA:163649 |
Ulnar Hypoplasia |
|
Hypoplasia of the radius, Radial bowing, Hypoplasia of the ulna, Distal ulnar hypoplasia, Radial ... |
OMIM:191440 |
Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Abnormality of the humerus, Synostosis of carpal bones, Clinodactyly of the 5th finger, Abnormal ... |
ORPHA:1275 |
Hall-Riggs Mental Retardation Syndrome |
|
Enamel hypoplasia, Irregular vertebral endplates, Prominent nose, Kyphosis, Thick lower lip vermi... |
OMIM:234250 |
Radioulnar Synostosis, Nonsyndromic, Susceptibility To |
|
Radioulnar synostosis, Limited pronation/supination of forearm |
OMIM:179300 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Broad femoral neck, Genu valgum, Coxa vara, Flat distal femoral epiphysis, Short femoral neck, Ep... |
OMIM:609324 |
Pde4D Haploinsufficiency Syndrome |
|
Short phalanx of finger, Micrognathia, Prominent nasal tip, Caudal interpedicular narrowing, Broa... |
ORPHA:439822 |
Brachydactyly, Type A4 |
|
Talipes calcaneovalgus, Short middle phalanx of the 5th finger, Short middle phalanx of the 2nd f... |
OMIM:112800 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Patellar hypoplasia, Patellar aplasia, Patellar dislocation, Coxa vara, High palate, Micrognathia... |
OMIM:147891 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Meningocele, Camptodactyly of finger, Respiratory insufficiency, Prominent occiput, Spina bifida ... |
ORPHA:2311 |
Thoracomelic Dysplasia |
|
Hyperlordosis, Genu valgum, Bell-shaped thorax, Short ribs, Abnormal pelvic girdle bone morpholog... |
ORPHA:1803 |
Juberg-Hayward Syndrome |
|
Wide nose, Abnormality of the elbow, Abnormal finger morphology, Toe syndactyly, Hypoplasia of th... |
ORPHA:2319 |
Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Camptodactyly of finger, Short distal phalanx of finger, Broad thumb, Type B brachydactyly |
ORPHA:1471 |
Maxillonasal Dysplasia |
|
Vertebral clefting, Abnormal nostril morphology, Mandibular prognathia, Patchy distortion of vert... |
ORPHA:1248 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Convex nasal ridge, Lower limb undergrowth, Forearm undergrowth, Craniosynostosis, Orofacial cleft |
OMIM:218650 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Hyperlordosis, Genu valgum, Metaphyseal irregularity, Hypoplastic pubic bone, Coxa vara, Anterior... |
OMIM:184250 |
Acrocephalopolydactyly |
|
Thoracic hypoplasia, Depressed nasal ridge, Short long bone, Short nose, Limb undergrowth, Short ... |
ORPHA:221054 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short phalanx of finger, Flexion contracture, Thoracic hypoplasia, Wide nasal bridge, Rhizo-meso-... |
OMIM:611717 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Optic atrophy |
ORPHA:2253 |
Hhhh Syndrome |
|
Hemiatrophy |
OMIM:306960 |
Greenberg Dysplasia |
|
Abnormal bone ossification, Rhizomelia, Narrow chest, Micrognathia, Micromelia, Abnormal pelvis b... |
ORPHA:1426 |
Alagille Syndrome |
|
Brachycephaly, Micrognathia, Spina bifida occulta, Delayed skeletal maturation, Peripheral pulmon... |
ORPHA:52 |
Cono-Spondylar Dysplasia |
|
Kyphosis, Short 4th toe, Short lower limbs, Cone-shaped epiphyses of the phalanges of the hand, E... |
ORPHA:420794 |
Schneckenbecken Dysplasia |
|
Dumbbell-shaped long bone, Advanced ossification of carpal bones, Thoracic hypoplasia, Short neck... |
OMIM:269250 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Short phalanx of finger, Camptodactyly of finger, Tapered finger, Delayed eruption of teeth, Flat... |
OMIM:612350 |
Brachydactyly-Syndactyly Syndrome |
|
Short phalanx of finger, Finger syndactyly, Short digit, Camptodactyly, Oligodactyly, Syndactyly,... |
OMIM:610713 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Dumbbell-shaped long bone, Thoracic hypoplasia, Severe platyspondyly, Short neck, Ovoid vertebral... |
OMIM:151210 |
Atelosteogenesis Type Iii |
|
Short tibia, Thoracic hypoplasia, Vertebral hypoplasia, Abnormal cervical curvature, Short tubula... |
ORPHA:56305 |
Pelviscapular Dysplasia |
|
Mesomelic leg shortening, Hypoplastic ilia, Humeroradial synostosis, Elbow flexion contracture, S... |
ORPHA:93333 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Camptodactyly of finger, Conductive hearing impairment, Absence of labia majora, Micrognathia, Pu... |
ORPHA:2990 |
Fetal Trimethadione Syndrome |
|
Brachycephaly, Ambiguous genitalia, High palate, Ventricular septal defect, Micrognathia, Midface... |
ORPHA:1913 |
Stuve-Wiedemann Syndrome 1 |
|
Short tibia, Short phalanx of finger, Micrognathia, Metaphyseal rarefaction, Elbow flexion contra... |
OMIM:601559 |
Ruvalcaba Syndrome |
|
Convex nasal ridge, Synostosis of carpal bones, Short nose, Ptosis, Delayed puberty, Proximal pla... |
ORPHA:3121 |
Shox-Related Short Stature |
|
Genu valgum, High palate, Micrognathia, Lower limb undergrowth, Short neck, Ulnar radial head dis... |
ORPHA:314795 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Rhizomelia, Short metacarpal, Narrow chest, Mesomelia, Brachydactyly, Postaxial hand polydactyly,... |
OMIM:611263 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... |
OMIM:228930 |
Acromegaloid Facial Appearance Syndrome |
|
Tapered finger, Short 5th metacarpal, Blepharophimosis, Synophrys, Micrognathia, Large for gestat... |
OMIM:102150 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Short phalanx of finger, Underdeveloped nasal alae, Avascular necrosis of the capital femoral epi... |
OMIM:190351 |
Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Broad foot, Short phalanx of finger, Short toe... |
OMIM:609441 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Ossifying fibroma of the jaw, Flattened femoral head, Narrow pelvis bone, Fibular metaphyseal irr... |
ORPHA:457395 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Chorioretinal coloboma |
OMIM:274205 |
Sandestig-Stefanova Syndrome |
|
Retrognathia, Convex nasal ridge, High palate, Wide nasal bridge, Primary microcephaly, Underdeve... |
OMIM:618804 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short phalanx of finger, Mandibular prognathia, Advanced ossification of carpal bones, Short meta... |
OMIM:614613 |
Diastrophic Dysplasia |
|
Camptodactyly of finger, Micrognathia, Increased bone mineral density, Elbow dislocation, Hypopla... |
ORPHA:628 |
Fibular Aplasia-Ectrodactyly Syndrome |
|
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Split hand |
ORPHA:1118 |
Robinow Syndrome |
|
Marked delay in eruption of permanent teeth, Bifid tongue, Micrognathia, Midface retrusion, Hypop... |
ORPHA:97360 |
Paget Disease Of Bone 2, Early-Onset |
|
Increased susceptibility to fractures, Short femur, Femoral bowing, Osteosclerosis of the ulna, O... |
OMIM:602080 |
Greenberg Dysplasia |
|
Short phalanx of finger, Absent or minimally ossified vertebral bodies, Thoracic hypoplasia, Tetr... |
OMIM:215140 |
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Syndactyly, Split foot, Short finger, Hypoplasia of the ulna |
OMIM:314360 |
Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate, Short humerus |
OMIM:191000 |
17Q21.31 Microduplication Syndrome |
|
High palate, Toe syndactyly, Micrognathia, Clinodactyly of the 5th finger, Short philtrum, Short ... |
ORPHA:217340 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Hypoplastic pubic bone, Thoracic hypoplasia, Short long bone, Flat acetabu... |
OMIM:608728 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Genu valgum, Wide nasal bridge, Clinodactyly, Spindle-shaped finger, Abnormal vertebral morpholog... |
ORPHA:166024 |
Mesomelic Dysplasia, Savarirayan Type |
|
Short tibia, Abnormal foot morphology, Abnormal thorax morphology, Hip dislocation, Talipes equin... |
OMIM:605274 |
Coffin-Lowry Syndrome |
|
Tapered finger, Abnormality of neuronal migration, Delayed eruption of teeth, Pectus excavatum, E... |
ORPHA:192 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Genu varum, Abnormality of the knee, Genu valgum, Coxa vara, Abnormality of the epiphyses of the ... |
ORPHA:166002 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hypoplastic iliac wing, 11 pairs of ribs, Metaphyseal cupping, Rhizomelia, Depressed nasal ridge,... |
OMIM:300863 |
Chromosome 9P Deletion Syndrome |
|
Tapered finger, Wide nasal bridge, Micrognathia, Clinodactyly of the 5th toe, Midface retrusion, ... |
OMIM:158170 |
Acrorenal-Mandibular Syndrome |
|
Abnormal sacral segmentation, Toe syndactyly, Micrognathia, Elbow flexion contracture, Butterfly ... |
OMIM:200980 |
Syndactyly, Type Iv |
|
Triphalangeal thumb, 2-3 toe syndactyly, Polydactyly, Supernumerary metacarpal bones, 1-5 finger ... |
OMIM:186200 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Short femoral neck, Kyphosis, Delayed ossification of carpal bones, Brachydactyly, Pectus carinat... |
OMIM:618392 |
Orofaciodigital Syndrome Xviii |
|
Genu valgum, Wide nasal bridge, Short philtrum, Diastema, Accessory oral frenulum, Cervical ribs,... |
OMIM:617927 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Genu varum, Advanced ossification of carpal bones, Short femoral neck, Vertebral wedging, Flat ac... |
OMIM:617719 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Thoracic hypoplasia, Pectus excavatum, Bowing of the legs, Limb undergrowth, Limited elbow extens... |
ORPHA:156728 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Hyperlordosis, Genu varum, Progressive leg bowing, Abnormality of the dentition, Hip dysplasia, S... |
ORPHA:2501 |
W Syndrome |
|
Agenesis of maxillary central incisor, Upper lip pit, Radial bowing, Clinodactyly, Camptodactyly,... |
ORPHA:2804 |
Ring Chromosome 4 Syndrome |
|
Abnormal morphology of ulna, Abnormality of the upper limb, Aplasia/Hypoplasia of the radius, Spl... |
ORPHA:1447 |
Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Clinodactyly of the 5th f... |
ORPHA:93406 |
Osteoglophonic Dysplasia |
|
Short phalanx of finger, Short neck, Limb undergrowth, Short palm, Pseudoarthrosis, Increased sus... |
OMIM:166250 |
Diastrophic Dysplasia |
|
Genu valgum, Hip contracture, Patellar dislocation, Short long bone, Cervical kyphosis, Short fin... |
OMIM:222600 |
8P23.1 Microdeletion Syndrome |
|
Atrioventricular canal defect, Enlarged thorax, Tapered finger, Wide nasal bridge, Abnormal cardi... |
ORPHA:251071 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short palpebral fissure, Short toe, Bifid distal phalanx of the thumb, Curved distal phalanx of t... |
ORPHA:370010 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Coxa valga, Advanced ossification of carpal bones, Thoracic hypoplasia, Micrognathia, Flattened e... |
OMIM:618363 |
Eng-Strom Syndrome |
|
Camptodactyly of finger, Arthritis, Pectus excavatum, Scoliosis, Brachydactyly |
ORPHA:1937 |
Osteopathia Striata With Cranial Sclerosis |
|
Paranasal sinus hypoplasia, Wide nasal bridge, Micrognathia, Bifid uvula, Camptodactyly, Pectus e... |
OMIM:300373 |
Anauxetic Dysplasia 3 |
|
Hip subluxation, Retrognathia, Genu valgum, Metaphyseal cupping, Wide anterior fontanel, Short me... |
OMIM:618853 |
Hypertension And Brachydactyly Syndrome |
|
Short phalanx of finger, Type E brachydactyly, Cone-shaped epiphysis, Short metacarpal |
OMIM:112410 |
Aarskog-Scott Syndrome |
|
Camptodactyly of finger, Wide nasal bridge, Delayed eruption of teeth, Pectus excavatum, Everted ... |
ORPHA:915 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Convex nasal ridge, Short 5th metacarpal, Short middle phalanx of the 5th finger, Short middle ph... |
OMIM:156510 |
Postaxial Acrofacial Dysostosis |
|
Conical tooth, Midgut malrotation, Supernumerary vertebrae, Cleft upper lip, Abnormal foot morpho... |
OMIM:263750 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Rhizomelia, Wide nasal bridge, Narrow chest, Micrognathia, Short philtrum, Downturned corners of ... |
ORPHA:93267 |
Omodysplasia 1 |
|
Short tibia, Limited elbow flexion, Limited knee flexion/extension, Anterolateral radial head dis... |
OMIM:258315 |
Catel-Manzke Syndrome |
|
Micrognathia, Bifid uvula, Camptodactyly, Short femur, Pectus excavatum, Hyperphalangy of the 2nd... |
OMIM:616145 |
Mesomelic Limb Shortening And Bowing |
|
Mesomelic leg shortening, Camptodactyly of finger, Retrognathia, Micrognathia, Bowing of the legs... |
OMIM:249710 |
Brachydactyly, Type D |
|
Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly |
OMIM:113200 |
Mueller-Weiss Syndrome |
|
Pedal edema, Fragmented, irregular epiphyses, Tibial torsion, Limitation of movement at ankles, F... |
ORPHA:566943 |
Otospondylomegaepiphyseal Dysplasia |
|
Short phalanx of finger, Micrognathia, Bifid uvula, Short neck, Limb undergrowth, Fibular bowing,... |
ORPHA:1427 |
Orofaciodigital Syndrome Iv |
|
Short tibia, Lobulated tongue, High palate, Tongue nodules, Toe syndactyly, Micrognathia, Foot po... |
OMIM:258860 |
Achondrogenesis, Type Ia |
|
Unossified vertebral bodies, Abnormal hand bone ossification, Short neck, Talipes equinovarus, Be... |
OMIM:200600 |
Acromesomelic Dysplasia 1 |
|
Short phalanx of finger, Ovoid vertebral bodies, Limited elbow extension, Beaking of vertebral bo... |
OMIM:602875 |
Meier-Gorlin Syndrome 6 |
|
Hypoplastic labia majora, Delayed skeletal maturation, Hip dysplasia, Short nose, Delayed puberty... |
OMIM:616835 |
Melnick-Needles Syndrome |
|
Osteolytic defects of the phalanges of the hand, Coxa valga, Delayed eruption of teeth, Micrognat... |
OMIM:309350 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Easily subluxated first metacarpophalangeal joints, Tapered finger, Pierre-Robin sequence, Microg... |
OMIM:311895 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Cleft upper lip, Foot oligodactyly, Bilateral cleft lip, Short femur, Bilateral cleft palate, Sco... |
OMIM:601357 |
Cousin Syndrome |
|
Anterior rounding of vertebral bodies, 2-3 toe syndactyly, Wrist flexion contracture, Humeroradia... |
OMIM:260660 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Retinal dystrophy, Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Ir... |
ORPHA:231736 |
Acrocraniofacial Dysostosis |
|
Tapered finger, Coxa valga, Micrognathia, Flared iliac wing, Pectus excavatum, Spina bifida occul... |
ORPHA:949 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Recurrent fractures, Kyphosis, Increased bone mineral density, Short humerus, Ankylosis, Barrel-s... |
OMIM:239000 |
Heart Defects-Limb Shortening Syndrome |
|
Mesomelic/rhizomelic limb shortening, Kyphosis, Death in infancy, Narrow chest, Abnormal metaphys... |
ORPHA:1354 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Short phalanx of finger, Hypoplastic iliac wing, Metaphyseal irregularity, Horizontal ribs, Short... |
OMIM:208500 |
Dyggve-Melchior-Clausen Disease |
|
Broad foot, Camptodactyly, Short neck, Flat glenoid fossa, Beaking of vertebral bodies, Narrow gr... |
OMIM:223800 |
Orofaciodigital Syndrome Ix |
|
Short tibia, High palate, Toe syndactyly, Hand polydactyly, Camptodactyly, Median cleft lip, Broa... |
OMIM:258865 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Short phalanx of finger, Hip subluxation, Thoracic hypoplasia, Progressive calcification of costo... |
OMIM:271665 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Thick upper lip vermilion, Enlarged thorax, Wide nasal bridge, Rhizo-meso-acromelic limb shorteni... |
ORPHA:163654 |
Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Hypoplastic frontal sinuses, Micrognathia, Flared iliac wing, Increased ... |
ORPHA:90652 |
Synpolydactyly 1 |
|
Finger syndactyly, Short middle phalanx of the 5th finger, Preaxial foot polydactyly, Clinodactyl... |
OMIM:186000 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Hyperlordosis, Short thorax, Wide nasal bridge, Vertebral segmentation defect, Missing ribs, Post... |
ORPHA:1797 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Genu varum, Genu valgum, Avascular necrosis of the capital femoral epiphysis, Finger joint hyperm... |
ORPHA:93308 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Micrognathia, Elbow flexion contracture, Hip dislocation, Dislocated radial head, Limited elbow e... |
ORPHA:93359 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Vertebral segmentation defect, Abnormality of the humerus, Synostosis of... |
ORPHA:1836 |
Atelosteogenesis, Type Iii |
|
Horizontal sacrum, Rhizomelia, Micrognathia, Radial bowing, Cervical kyphosis, Flat acetabular ro... |
OMIM:108721 |
Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, Cutaneous ... |
OMIM:619217 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ankle clonus, High palate, Long philtrum, Deep philtrum, Short nose, Hypoplasia of the ulna, Pect... |
OMIM:615398 |
Catel-Manzke Syndrome |
|
Metatarsus valgus, Camptodactyly of finger, Micrognathia, Oral synechia, Clinodactyly of the 5th ... |
ORPHA:1388 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Broad foot, Flexion contracture, Flared iliac wing, Short neck, Flattened epiphysis, Peg-like cen... |
OMIM:300232 |
Acheiropodia |
|
Aplasia of the ulna, Upper limb phocomelia, Absent radius, Abnormal metaphysis morphology, Abnorm... |
ORPHA:931 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Genu varum, Metaphyseal irregularity, Short metacarpal, Short long bone, Metaphyseal striations, ... |
OMIM:250460 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short phalanx of finger, Absent thumb, Coxa valga, Patellar dislocation, Micrognathia, Hip disloc... |
OMIM:274000 |
Hypoplastic Femurs And Pelvis |
|
Hypoplastic pelvis, Short femur |
OMIM:619545 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Knee flexion contracture, 2-3 toe syndactyly, Hip contracture, High palate, Death in infancy, Toe... |
OMIM:616809 |
Paternal Uniparental Disomy Of Chromosome X |
|
Short metacarpal, Decreased testicular size, Infertility, Short neck, Cubitus valgus, Micropenis,... |
ORPHA:261524 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Neck pterygia, Flexion contracture, Multiple joint contractures, Epicanthus, Anterior clefting of... |
OMIM:265000 |
Fibrochondrogenesis 2 |
|
Bell-shaped thorax, Metaphyseal cupping, Hypoplastic pubic bone, Hypoplastic ilia, Thoracic hypop... |
OMIM:614524 |
Osseous Heteroplasia, Progressive |
|
Limb undergrowth |
OMIM:166350 |
Achondroplasia |
|
Thoracic hypoplasia, Short proximal phalanx of finger, Limb undergrowth, Limited elbow extension,... |
ORPHA:15 |
Brachydactyly, Type A2, With Microcephaly |
|
Absent middle phalanx of 2nd finger, Type A2 brachydactyly, Clinodactyly of the 2nd toe, Thumbs h... |
OMIM:211369 |
Duane-Radial Ray Syndrome |
|
Shoulder dislocation, Absent thumb, Aplasia of metacarpal bones, Spina bifida occulta, Choanal at... |
OMIM:607323 |
Kniest Dysplasia |
|
Conductive hearing impairment, Dumbbell-shaped long bone, Hip dislocation, Midface retrusion, Pec... |
OMIM:156550 |
Femoral-Facial Syndrome |
|
Hypoplastic acetabulae, Humeroradial synostosis, Toe syndactyly, Micrognathia, Aplasia/hypoplasia... |
OMIM:134780 |
Chst3-Related Skeletal Dysplasia |
|
Intervertebral space narrowing, Genu valgum, Flexion contracture, Rhizomelia, Short metacarpal, D... |
ORPHA:263463 |
Acheiropody |
|
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Absen... |
OMIM:200500 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Metaphyseal cupping of proximal phalanges, Metaphyseal chondrodysplasia, Irregular acetabular roo... |
OMIM:156500 |
Otopalatodigital Syndrome, Type Ii |
|
Toe syndactyly, Micrognathia, Elbow contracture, Pectus excavatum, Broad hallux, Short hallux, Sh... |
OMIM:304120 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Sacral dimple, Esophageal atresia, Hand polydactyly, Abnormal vertebral morphology, Anal atresia,... |
OMIM:314390 |
Aase-Smith Syndrome |
|
Camptodactyly of finger, Multiple joint contractures, Joint stiffness, Aplasia/Hypoplasia of the ... |
ORPHA:916 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Irregular vertebral endplates, Lumbar scoliosis, Lower limb undergrowth, Brachydactyly, Bowing of... |
OMIM:612847 |
Retinitis Pigmentosa 40 |
|
Cataract, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blo... |
OMIM:613801 |
Cranioectodermal Dysplasia 1 |
|
Wide nasal bridge, Microdontia, Pectus excavatum, Everted lower lip vermilion, Radial deviation o... |
OMIM:218330 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal morphology of ulna, Short neck, High palate, Abnormal metacarpal morphology |
ORPHA:2233 |
Baller-Gerold Syndrome |
|
Brachycephaly, Absent thumb, Conductive hearing impairment, Aplasia of metacarpal bones, Microgna... |
OMIM:218600 |
Otopalatodigital Syndrome Type 1 |
|
Hypoplastic frontal sinuses, Wide nasal bridge, Abnormality of the tarsal bones, Increased bone m... |
ORPHA:90650 |
Ulnar Hypoplasia-Split Foot Syndrome |
|
Split foot, Aplasia/Hypoplasia of the radius, Split hand, Hypoplasia of the ulna |
ORPHA:1122 |
Brachydactylous Dwarfism, Mseleni Type |
|
Short toe, Protrusio acetabuli, Hip osteoarthritis, Brachytelomesophalangy, Abnormality of the wr... |
ORPHA:2619 |
Cranioectodermal Dysplasia |
|
Finger syndactyly, Rhizomelia, Narrow chest, Microdontia, Hypodontia, Taurodontia, Clinodactyly o... |
ORPHA:1515 |
Coats Disease |
|
Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Cataract, Retinal detachment, Abnorm... |
ORPHA:190 |
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Broad femoral neck, Genu valgum, Pseudoepiphyses, Irregular vertebral endplates, Tapered finger, ... |
OMIM:601668 |
Sponastrime Dysplasia |
|
Hip subluxation, Broad foot, Aplasia of the nasal bone, Microdontia, Flat capital femoral epiphys... |
ORPHA:93357 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Flared, irregular rib ends, Coxa vara, Limitation of joint mobility, Platyspondyly, Micromelia, S... |
ORPHA:168555 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Hyperlordosis, Mandibular prognathia, Cone-shaped epiphysis, Abnormal finger morphology, Large il... |
ORPHA:2511 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hypoplastic iliac wing, Short foot, Abnormality of the calcaneus, Rhizomelia, Depressed nasal rid... |
ORPHA:163966 |
Diamond-Blackfan Anemia 11 |
|
Absent thumb, Forearm reduction defects, Hypoplasia of the radius, Radioulnar synostosis, Hypopla... |
OMIM:614900 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Patellar dislocation, Short metacarpal, Cuboidal metacarpal, Abnormality of the ankle, Hip disloc... |
ORPHA:968 |
Otoonychoperoneal Syndrome |
|
Knee flexion contracture, Aplasia/Hypoplasia of the fibula, Hip contracture, Ankle flexion contra... |
OMIM:259780 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Metaphyseal irregularity, Pear-shaped vertebrae, Short lower limbs, Tibial bowing, Fe... |
ORPHA:93356 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short phalanx of finger, Epicanthus, Delayed eruption of teeth, Epiphyseal stippling, Hypoplastic... |
OMIM:101800 |
Boomerang Dysplasia |
|
Underdeveloped nasal alae, Wide nasal bridge, Hypoplastic iliac body, Hypoplastic nasal septum, A... |
OMIM:112310 |
Martsolf Syndrome 1 |
|
Short phalanx of finger, Brachycephaly, Finger joint hypermobility, Micrognathia, Metatarsus addu... |
OMIM:212720 |
Arthrogryposis, Distal, Type 1C |
|
Camptodactyly of finger, Wrist flexion contracture, Elbow flexion contracture, Bifid uvula, Short... |
OMIM:619110 |
Codas Syndrome |
|
Delayed eruption of teeth, Delayed skeletal maturation, Abnormal form of the vertebral bodies, Ab... |
ORPHA:1458 |
Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Posterior vitreous detachment, Cataract, Chorioretinal atrophy, Reti... |
OMIM:616468 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Generalized bone demineralization, Penile hypospadias, Short 5th finger, Abnormal bone ossificati... |
ORPHA:73230 |
Leri Pleonosteosis |
|
Camptodactyly of finger, Abnormal finger morphology, Abnormal metacarpal morphology, Abnormally s... |
ORPHA:2900 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Hypoplastic sacrum, Broad foot, Genu valgum, Metaphyseal dysplasia, Upper limb undergrowth, Capit... |
OMIM:271650 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Vertebral hypoplasia, Short neck, Limb undergrowth, Narrow greater sciatic notch, Delayed epiphys... |
OMIM:602557 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Short phalanx of finger, Short metacarpal, Brachydactyly |
ORPHA:1276 |
Rubinstein-Taybi Syndrome 1 |
|
Delayed cranial suture closure, Polydactyly, Flexion contracture, Convex nasal ridge, Patellar di... |
OMIM:180849 |
Brachydactyly Type C |
|
Metatarsus valgus, Symphalangism affecting the phalanges of the hand, Complete duplication of dis... |
ORPHA:93384 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract, Rod-cone dystrophy |
OMIM:300719 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Absent thumb, Cleft upper lip, High palate, Hypoplasia of the radius, Micrognathia, Hand oligodac... |
OMIM:602418 |
Otopalatodigital Syndrome, Type I |
|
Short 4th metacarpal, Coxa valga, Abnormality of the fifth metatarsal bone, Wide nasal bridge, To... |
OMIM:311300 |
Phocomelia, Schinzel Type |
|
Humeroradial synostosis, Micrognathia, Short neck, Ectrodactyly, Cleft palate, Aplasia/Hypoplasia... |
ORPHA:2879 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hip subluxation, Hip osteoarthritis, Flattened femoral head, Lumbar hyperlordosis, Hump-shaped mo... |
ORPHA:99642 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Tapered finger, Coxa valga, Midface retrusion, Radial deviation of finger, Posteriorly rotated ea... |
OMIM:301040 |
Tibial Hemimelia |
|
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... |
ORPHA:93322 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Anauxetic Dysplasia 1 |
|
Microdontia, Atlantoaxial dislocation, Elbow flexion contracture, Short neck, Limited elbow exten... |
OMIM:607095 |
Gordon Syndrome |
|
Camptodactyly of finger, High palate, Finger syndactyly, Clinodactyly of the 5th finger, Limitati... |
ORPHA:376 |
Craniofrontonasal Dysplasia |
|
Camptodactyly of finger, Wide nasal bridge, Pectus excavatum, Orofacial cleft, Hand polydactyly, ... |
ORPHA:1520 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Horizontal ribs, Short 4th metacarpal, Thoracic hypoplasia, Camptodactyly, Broad hallux, Limb und... |
OMIM:618019 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Bell-shaped thorax, Convex nasal ridge, Thoracic hypoplasia, Recurrent fract... |
OMIM:166210 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Radial club hand, Preaxial hand polydactyly, Short metacarpal, Wide nasal bridge, Micrognathia, A... |
ORPHA:1278 |
Cleidocranial Dysplasia |
|
Brachycephaly, Tapered finger, Delayed eruption of teeth, Hypoplastic inferior ilia, Micrognathia... |
ORPHA:1452 |
Thanatophoric Dysplasia, Type Ii |
|
Metaphyseal irregularity, Hypoplastic ilia, Short ribs, Platyspondyly, Flared metaphysis, Wide-cu... |
OMIM:187601 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Joint stiffness, Abnormal metacarpal morphology, Type A brachydactyly, Abnormal thumb morphology |
ORPHA:1078 |
Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Camptodactyly of finger, Hallux valgus, Toe syndactyly, Pectus excavatum, Scapular winging, Abnor... |
ORPHA:1327 |
Gombo Syndrome |
|
Clinodactyly, Radial deviation of finger, Brachydactyly |
OMIM:233270 |
Autosomal Recessive Omodysplasia |
|
Rhizomelia, Long philtrum, Micrognathia, Abnormal morphology of the radius, Short nose, Elbow dis... |
ORPHA:93329 |
Terminal Osseous Dysplasia |
|
Camptodactyly of finger, Short toe, Mesomelic leg shortening, Multiple joint contractures, Abnorm... |
OMIM:300244 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... |
OMIM:143200 |
Acromesomelic Dysplasia 4 |
|
Short phalanx of finger, Wide nasal bridge, Synophrys, Beaking of vertebral bodies, Thick eyebrow... |
OMIM:619636 |
Arms, Malformation Of |
|
Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna |
OMIM:107900 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short phalanx of finger, Wide nasal bridge, Midface retrusion, Limb undergrowth, Short thorax, Do... |
OMIM:617102 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Short phalanx of finger, Coxa valga, Flared iliac wing, Narrow pelvis bone, Limited elbow extensi... |
OMIM:300106 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Mandibular prognathia, Rhizomelia, Absent nasal bridge, Short finger, Irregular epiphyses, Joint ... |
OMIM:612813 |
Roifman Syndrome |
|
Underdeveloped nasal alae, Downslanted palpebral fissures, Short toe, Irregular vertebral endplat... |
OMIM:616651 |
Diabetic Embryopathy |
|
Abnormal aortic morphology, Spinal dysraphism, Ventricular septal defect, Microtia, Vertebral seg... |
ORPHA:1926 |
Ghosal Hematodiaphyseal Dysplasia |
|
Abnormal cortical bone morphology, Craniofacial hyperostosis, Abnormal pelvic girdle bone morphol... |
ORPHA:1802 |
C Syndrome |
|
Wide nasal bridge, Epicanthus, Toe syndactyly, Micrognathia, Hip dislocation, Dislocated radial h... |
OMIM:211750 |
Steinfeld Syndrome |
|
Aplasia/Hypoplasia of the thumb, Aplasia of the nose, Hypoplasia of the radius, Missing ribs, Bif... |
OMIM:184705 |
Orofaciodigital Syndrome X |
|
Retrognathia, Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Depresse... |
OMIM:165590 |
Wiedemann-Rautenstrauch Syndrome |
|
Delayed closure of the anterior fontanelle, Flexion contracture, Convex nasal ridge, Hypoplasia o... |
OMIM:264090 |
Pallister-Hall Syndrome |
|
Precocious puberty, Short 4th metacarpal, Toe syndactyly, Hip dislocation, Distal shortening of l... |
OMIM:146510 |
Restrictive Dermopathy 1 |
|
Flexion contracture, Convex nasal ridge, Micrognathia, Ankylosis, Sparse eyelashes, Rocker bottom... |
OMIM:275210 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Brachycephaly, Wide nasal bridge, Micrognathia, Recurrent sinusitis, Pectus excavatum, Overlappin... |
OMIM:213980 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Hypoplastic iliac wing, Dental malocclusion, Mandibular prognathia, Kyphosis, Hip dysplasia, Scol... |
ORPHA:1858 |
Brachydactyly, Type B1 |
|
Thoracolumbar scoliosis, Hypoplastic sacrum, Vertebral fusion, Delayed cranial suture closure, Wi... |
OMIM:113000 |
Peripheral Dysostosis |
|
Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand |
OMIM:170700 |
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Postaxial hand polydactyly, Short thumb, Short 2nd toe, Brachydactyly |
OMIM:176305 |
Liebenberg Syndrome |
|
Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contracture, Radially deviated w... |
OMIM:186550 |
Blepharonasofacial Malformation Syndrome |
|
Underdeveloped nasal alae, Wide nose, Sparse lateral eyebrow, Finger syndactyly, Wide nasal bridg... |
ORPHA:1252 |
Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Recurrent fractures, Kyphosis, Epicanthus, Toe syndactyly, Micrognathia,... |
ORPHA:3409 |
Kbg Syndrome |
|
Synophrys, Cervical ribs, Radial deviation of finger, Short neck, Delayed skeletal maturation, Ul... |
OMIM:148050 |
Humero-Radio-Ulnar Synostosis |
|
Aplasia/Hypoplasia of the thumb, Elbow ankylosis, Abnormal metacarpal morphology, Radioulnar syno... |
ORPHA:3266 |
Mesomelia-Synostoses Syndrome |
|
Convex nasal ridge, Micrognathia, Abnormality of the wrist, Metatarsal synostosis, Abnormal oral ... |
ORPHA:2496 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Mandibular prognathia, Patellar dislocation, Kyphosis, Epicanthus, Clinodactyly... |
ORPHA:2916 |
Achondrogenesis Type 1A |
|
Short thorax, Short foot, Recurrent fractures, Abnormal enchondral ossification, Long philtrum, M... |
ORPHA:93299 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ... |
ORPHA:1986 |
Arthrogryposis, Distal, Type 3 |
|
Short phalanx of finger, Camptodactyly of finger, Ulnar deviation of the hand or of fingers of th... |
OMIM:114300 |
Dysostosis, Stanescu Type |
|
Convex nasal ridge, Increased bone mineral density, Pectus excavatum, Short neck, Tooth agenesis,... |
ORPHA:1798 |
Hall-Riggs Syndrome |
|
Prominent nose, Wide nasal bridge, Delayed eruption of teeth, Wide mouth, Thick vermilion border,... |
ORPHA:2107 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Humeroradial synostosis, Wide nasal bridge, Aplasia/hypoplasia of the femur, Elbow flexion contra... |
OMIM:276820 |
Wiedemann-Steiner Syndrome |
|
Short phalanx of finger, 2-3 toe syndactyly, Tapered finger, Short 5th finger, Wide nasal bridge,... |
OMIM:605130 |
Cerebrocostomandibular Syndrome |
|
Thoracic hypoplasia, Cleft soft palate, Micrognathia, Elbow flexion contracture, Posterior rib ga... |
OMIM:117650 |
Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Aplasia/hypoplasia of the femur, Micrognathia, Dislocated radial head, C... |
ORPHA:2839 |
Wolf-Hirschhorn Syndrome |
|
Wide nasal bridge, Abnormal cardiac septum morphology, Micrognathia, Abnormal lip morphology, Abn... |
ORPHA:280 |
Postaxial Acrofacial Dysostosis |
|
Camptodactyly of finger, Non-midline cleft lip, Finger syndactyly, Hypoplasia of the radius, Micr... |
ORPHA:246 |
Snijders Blok-Campeau Syndrome |
|
Enamel hypoplasia, Prominent nose, High palate, Wide nasal bridge, Widely spaced teeth, Perimembr... |
OMIM:618205 |
Epiphyseal Dysplasia, Multiple, 6 |
|
Abnormality of the knee, Irregular vertebral endplates, Flat distal femoral epiphysis, Flat capit... |
OMIM:614135 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Wide nose, Iliac crest serration, Bell-shaped thorax, Metaphyseal cupping, Severe platyspondyly, ... |
OMIM:613320 |
Ververi-Brady Syndrome |
|
Wide nose, Metaphyseal irregularity, Macrotia, Prominent nose, High palate, Wide mouth, Clinodact... |
OMIM:617982 |
Desbuquois Syndrome |
|
Camptodactyly of finger, Bell-shaped thorax, Coxa valga, Patellar dislocation, Coxa vara, Small h... |
ORPHA:1425 |
Achondrogenesis Type 1B |
|
Short thorax, Abnormal enchondral ossification, Long philtrum, Narrow chest, Micrognathia, Short ... |
ORPHA:93298 |
Kbg Syndrome |
|
Bilateral conductive hearing impairment, Cervical ribs, Short neck, Delayed skeletal maturation, ... |
ORPHA:2332 |
Chondroectodermal Dysplasia With Night Blindness |
|
Metaphyseal irregularity, Abnormality of the knee, Micrognathia, Abnormal patella morphology, Epi... |
ORPHA:319195 |
Occipital Horn Syndrome |
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Convex nasal ridge, Coxa valga, Pelvic bone exostoses, Pectus excavatum, Limited elbow extension,... |
OMIM:304150 |
Pseudopseudohypoparathyroidism |
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Enamel hypoplasia, Short metacarpal, Delayed eruption of teeth, Depressed nasal bridge, Short nec... |
OMIM:612463 |
Holzgreve Syndrome |
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Aplasia/Hypoplasia of the tongue, Bifid tongue, Abnormal metacarpal morphology, Hand polydactyly,... |
ORPHA:2167 |
Cutis Laxa, Autosomal Recessive, Type Iid |
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Retrognathia, Downslanted palpebral fissures, Entropion, Wide nasal bridge, Narrow naris, Blephar... |
OMIM:617403 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
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2-3 toe syndactyly, Convex nasal ridge, Finger joint hypermobility, Prominent nasal tip, Butterfl... |
OMIM:618870 |
Smith-Mccort Dysplasia 2 |
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Short phalanx of finger, Decreased body weight, Flattened femoral head, Short neck, Flattened epi... |
OMIM:615222 |
Laurin-Sandrow Syndrome |
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Toe syndactyly, Abnormality of the wrist, Fibular duplication, Prominent nose, Preaxial foot poly... |
ORPHA:2378 |
Pierpont Syndrome |
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Broad foot, Prominent subcalcaneal fat pad, Everted lower lip vermilion, Short neck, Smooth philt... |
OMIM:602342 |
Retinitis Pigmentosa 84 |
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Rod-cone dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... |
OMIM:618220 |
Ulbright-Hodes Syndrome |
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Ovoid thoracolumbar vertebrae, Convex nasal ridge, Humeroradial synostosis, Micrognathia, Phocome... |
ORPHA:3404 |
Desbuquois Dysplasia 2 |
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Short phalanx of finger, Advanced ossification of carpal bones, Coxa valga, Epicanthus, Synophrys... |
OMIM:615777 |
Lethal Osteosclerotic Bone Dysplasia |
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Delayed cranial suture closure, Retrognathia, Mandibular aplasia, Depressed nasal ridge, Microgna... |
ORPHA:1832 |
Frontometaphyseal Dysplasia |
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Camptodactyly of finger, Wrist flexion contracture, Short diaphyses, Conductive hearing impairmen... |
ORPHA:1826 |
Aminopterin Syndrome Sine Aminopterin |
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Brachycephaly, Micrognathia, Cleft palate, Posteriorly rotated ears, Frontal bossing, Hypertelori... |
OMIM:600325 |
Arthrogryposis, Distal, Type 2B2 |
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Short toe, Tapered finger, Ulnar deviation of the wrist, Clinodactyly, Camptodactyly, Hip disloca... |
OMIM:618435 |
Frank-Ter Haar Syndrome |
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Camptodactyly of finger, Mandibular prognathia, Kyphosis, Wide nasal bridge, Delayed eruption of ... |
ORPHA:137834 |
Upper Limb Mesomelic Dysplasia |
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Radial bowing, Ulnar deviation of finger, Hypoplasia of the ulna |
ORPHA:2497 |
Sillence Syndrome |
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Large iliac wing, Epicanthus, Camptodactyly, Metatarsus adductus, Abnormal distal phalanx morphol... |
ORPHA:3168 |
Jeune Syndrome |
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Abnormal sternum morphology, Short thorax, Toe syndactyly, Narrow chest, Abnormal pelvic girdle b... |
ORPHA:474 |
Acrootoocular Syndrome |
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Conductive hearing impairment, Delayed eruption of teeth, Grayish enamel, Micrognathia, Pectus ex... |
ORPHA:2980 |
Schinzel-Giedion Syndrome |
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Infantile sensorineural hearing impairment, Delayed eruption of teeth, Micrognathia, Abnormal tho... |
ORPHA:798 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
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Thick upper lip vermilion, Camptodactyly, Overlapping toe, Smooth philtrum, Thin lower lip vermil... |
ORPHA:363444 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
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Brachycephaly, Patent foramen ovale, Macrotia, Plagiocephaly, Wide mouth, Open mouth, Clinodactyl... |
OMIM:616789 |
Opsismodysplasia |
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Tapered finger, Hypoplastic pubic bone, Joint stiffness, Hypoplastic vertebral bodies, Hypoplasti... |
ORPHA:2746 |
Moebius Syndrome |
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Short phalanx of finger, Epicanthus, Micrognathia, Camptodactyly, Radial deviation of finger, Sho... |
OMIM:157900 |
Optic Atrophy 3, Autosomal Dominant |
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Cataract, Optic disc pallor, Optic atrophy |
OMIM:165300 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
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Minimal subcutaneous fat, Micrognathia, Camptodactyly, Metatarsus adductus, Dislocated radial hea... |
OMIM:182212 |
Robinow Syndrome, Autosomal Dominant 2 |
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