| Sugarman Brachydactyly |
|
Brachydactyly, Symphalangism affecting the proximal phalanges of the hand, Short proximal phalanx... |
OMIM:272150 |
| Brachydactyly, Type A3 |
|
Clinodactyly of the 5th finger, Type A brachydactyly, Cone-shaped epiphysis, Short middle phalanx... |
OMIM:112700 |
| Brachydactyly, Type D |
|
Broad distal phalanx of the thumb, Type D brachydactyly, Broad distal phalanx of the hallux |
OMIM:113200 |
| Liebenberg Syndrome |
|
Brachydactyly, Radially deviated wrists, Joint contracture of the 5th finger, Metaphyseal widenin... |
OMIM:186550 |
| Familial Digital Arthropathy-Brachydactyly |
|
Brachydactyly, Shortening of all middle phalanges of the toes, Osteoarthritis of the small joints... |
ORPHA:85169 |
| Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay |
|
Type A1 brachydactyly |
OMIM:188201 |
| Brachydactyly, Type C |
|
Short 3rd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, Pseudoepiphysis o... |
OMIM:113100 |
| Long-Thumb Brachydactyly Syndrome |
|
Brachydactyly, Short finger, Long thumb |
OMIM:112430 |
| Digital Arthropathy-Brachydactyly, Familial |
|
Brachytelomesophalangy, Short distal phalanx of toe, Short middle phalanx of toe, Short distal ph... |
OMIM:606835 |
| Brachydactyly, Type A1, C |
|
Bilateral talipes equinovarus, Brachydactyly, Short middle phalanx of the 4th finger, Short middl... |
OMIM:615072 |
| Cleidorhizomelic Syndrome |
|
Brachydactyly, Rhizomelia, Clinodactyly of the 5th finger, Diaphyseal thickening, Short middle ph... |
ORPHA:1453 |
| Triphalangeal Thumbs With Brachyectrodactyly |
|
Brachydactyly, Short 2nd finger, Short 3rd toe, Triphalangeal thumb, Split hand, Split foot |
OMIM:190680 |
| Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Brachydactyly, Short 2nd toe, Postaxial hand polydactyly, Short thumb |
OMIM:176305 |
| Brachydactyly, Type A1 |
|
Brachydactyly, Aplasia/Hypoplasia of the middle phalanges of the toes, Thin proximal phalanges wi... |
OMIM:112500 |
| Brachydactyly, Type A1, B |
|
Clinodactyly, Short 5th metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Type A br... |
OMIM:607004 |
| Brachydactyly Type A2 |
|
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short... |
ORPHA:93396 |
| Brachydactyly, Type A4 |
|
Short middle phalanx of the 2nd finger, Type A brachydactyly, Short middle phalanx of the 5th fin... |
OMIM:112800 |
| Thiemann Disease, Familial Form |
|
Brachydactyly, Abnormality of the metaphysis, Abnormality of epiphysis morphology |
ORPHA:3314 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Brachydactyly, Small thenar eminence, Small hypothenar eminence, Symphalangism affecting the phal... |
ORPHA:3246 |
| Ectrodactyly-Polydactyly Syndrome |
|
Brachydactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ectrodactyly... |
ORPHA:1892 |
| Brachydactyly, Type A2, With Microcephaly |
|
Clinodactyly of the 2nd toe, Absent middle phalanx of 2nd finger, Thumbs hypoplastic with bulbous... |
OMIM:211369 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Type A brachydactyly, Abnormal thumb morphology, Abnormal metacarpal morphology |
ORPHA:1078 |
| Brachydactyly-Syndactyly Syndrome |
|
Brachydactyly, Finger syndactyly, Oligodactyly, Short phalanx of finger, Short digit, Camptodacty... |
OMIM:610713 |
| Spondylometaphyseal Dysplasia, East African Type |
|
Brachydactyly, Genu varum, Metaphyseal spurs, Rounded epiphyses, Short long bone, Metaphyseal wid... |
OMIM:611702 |
| Brachydactyly, Combined B And E Types |
|
Brachydactyly, Short 5th metacarpal, Short 4th metacarpal, Short 5th finger, Short thumb, Broad d... |
OMIM:112440 |
| Banki Syndrome |
|
Brachydactyly, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Synostosis of carp... |
ORPHA:1228 |
| Syndactyly, Type V |
|
Brachydactyly, 4-5 toe syndactyly, Carpal synostosis, Absent distal interphalangeal creases, 4-5 ... |
OMIM:186300 |
| Heart-Hand Syndrome, Spanish Type |
|
Brachydactyly, Ulnar deviation of the 2nd finger, Short middle phalanx of finger |
OMIM:140450 |
| Gombo Syndrome |
|
Brachydactyly, Clinodactyly, Radial deviation of finger |
OMIM:233270 |
| Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Brachydactyly, Short metacarpal, Rhizomelia, Broad palm, Postaxial hand polydactyly, Mesomelia, S... |
OMIM:611263 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Brachydactyly, Polydactyly |
OMIM:617405 |
| Cooks Syndrome |
|
Brachydactyly, Triphalangeal thumb, Dystrophic toenail, Dystrophic fingernails, Broad thumb, Spli... |
ORPHA:1487 |
| Coloboma Of Macula With Type B Brachydactyly |
|
Bifid distal phalanx of the thumb, Type B brachydactyly, Broad distal phalanx of the thumb, Absen... |
OMIM:120400 |
| Exostoses With Anetodermia And Brachydactyly, Type E |
|
Type E brachydactyly |
OMIM:133690 |
| Arthrogryposis, Distal, Type 2B2 |
|
Brachydactyly, Clinodactyly, Sandal gap, Overlapping fingers, Tapered finger, Broad hallux, Metat... |
OMIM:618435 |
| Brachydactyly Type B2 |
|
Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Finger syndactyly,... |
ORPHA:140908 |
| Brachydactyly Type C |
|
Symphalangism affecting the phalanges of the hand, Metatarsus valgus, Pseudoepiphysis of the 2nd ... |
ORPHA:93384 |
| Multiple Synostoses Syndrome |
|
Brachydactyly, Symphalangism affecting the phalanges of the hand, Short palm, Cone-shaped epiphys... |
ORPHA:3237 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Brachydactyly, Oligodactyly, Ectrodactyly, Talipes equinovarus, Split hand |
OMIM:612576 |
| Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Type B brachydactyly, Camptodactyly of finger, Short distal phalanx of finger, Broad thumb |
ORPHA:1471 |
| Brachydactyly Type B |
|
Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Finger syndactyly,... |
ORPHA:93383 |
| Heart-Hand Syndrome, Slovenian Type |
|
Brachydactyly, Clinodactyly, Aplasia of the middle phalanx of the hand, Syndactyly |
OMIM:610140 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Overlapping fingers, Short hallux, Short thumb, Broad hallux, Adducted thumb, Shor... |
OMIM:618167 |
| Tarsal-Carpal Coalition Syndrome |
|
Brachydactyly, Clinodactyly, Carpal synostosis, Progressive fusion 2nd-5th pip joints, Distal sym... |
OMIM:186570 |
| Santos Syndrome |
|
Brachydactyly, Preaxial polydactyly, Oligodactyly, Metatarsus adductus, Polydactyly, Postaxial po... |
OMIM:613005 |
| Hypertension And Brachydactyly Syndrome |
|
Brachydactyly, Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger |
OMIM:112410 |
| Symphalangism, Distal |
|
Brachydactyly, Absent dorsal skin creases over affected joints, Distal foot symphalangism, Distal... |
OMIM:185700 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Postaxial oligodactyly, Short 5th finger, Aplasi... |
ORPHA:52056 |
| Hirschsprung Disease With Type D Brachydactyly |
|
Type D brachydactyly, Short thumb |
OMIM:306980 |
| Chromosome 15Q13.3 Deletion Syndrome |
|
Brachydactyly, Clinodactyly of the 5th finger, Synophrys |
OMIM:612001 |
| Brachydactyly-Arterial Hypertension Syndrome |
|
Brachydactyly, Short metacarpal, Short phalanx of finger |
ORPHA:1276 |
| Epiphyseal Dysplasia, Multiple, 4 |
|
Brachydactyly, Flat capital femoral epiphysis, Hypoplasia of the femoral head, Short metacarpal, ... |
OMIM:226900 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormality of the ulna, Synostosis ... |
ORPHA:1275 |
| Brachydactyly-Distal Symphalangism Syndrome |
|
Single transverse palmar crease, Type A1 brachydactyly, Aplasia of the middle phalanx of the hand... |
OMIM:113450 |
| Brachydactyly, Type A2 |
|
Short 2nd finger, Ulnar deviation of the 2nd finger, 2-3 toe syndactyly, Medially deviated second... |
OMIM:112600 |
| Emery-Nelson Syndrome |
|
Brachydactyly, Abnormal thumb morphology, Metacarpophalangeal joint contracture, Contractures of ... |
ORPHA:1927 |
| Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Type E brachydactyly |
ORPHA:1962 |
| Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome |
|
Brachydactyly, Short thumb |
ORPHA:435804 |
| Peripheral Dysostosis |
|
Brachydactyly, Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand |
ORPHA:1795 |
| Hypochondroplasia |
|
Brachydactyly, Genu varum, Abnormality of pelvic girdle bone morphology, Limited elbow extension,... |
OMIM:146000 |
| 2q37 monosomy |
|
Brachydactyly |
DECIPHER:44 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Brachydactyly, Short 5th metacarpal, Clinodactyly of the 5th finger, Short finger, Short toe |
OMIM:604381 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Brachydactyly, Short metacarpal, Rhizomelia, Short humerus, Deformed humeral heads, Short metatar... |
OMIM:601438 |
| Anauxetic Dysplasia 1 |
|
Brachydactyly, Delayed ossification of carpal bones, Rhizomelia, Flared metaphysis, Short finger,... |
OMIM:607095 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Metaphyseal irregularity, Coxa valga, Metaphyseal sclerosis, Irregular capital fem... |
OMIM:609052 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Fibular aplasia, Split ... |
OMIM:113310 |
| Proximal Symphalangism |
|
Brachydactyly, Synostosis of carpal bones, Finger syndactyly, Clinodactyly of the 5th finger, Elb... |
ORPHA:3250 |
| Osebold-Remondini Syndrome |
|
Broad toe, Carpal synostosis, Hypoplasia of the ulna, Bipartite calcaneus, Fibular hypoplasia, Ty... |
OMIM:112910 |
| Anonychia-Onychodystrophy With Brachydactyly Type B And Ectrodactyly |
|
Aplasia/Hypoplasia of the distal phalanges of the hand, Type B brachydactyly, Nail dystrophy, Spl... |
OMIM:106990 |
| Feingold Syndrome Type 2 |
|
Brachydactyly, Toe syndactyly, Short thumb, Short middle phalanx of finger |
ORPHA:391646 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Brachydactyly, Abnormal hip bone morphology, Abnormal thumb morphology, Synostosis of carpal bone... |
ORPHA:2639 |
| Tetrasomy X |
|
Brachydactyly, Clinodactyly of the 5th finger, Radioulnar synostosis, Hip dysplasia |
ORPHA:9 |
| Heart-Hand Syndrome Type 2 |
|
Brachydactyly, Abnormality of the ulna, Short 5th metacarpal, Aplasia/Hypoplasia of the thumb, Sh... |
ORPHA:1350 |
| Bardet-Biedl Syndrome 5 |
|
Brachydactyly, Syndactyly, Polydactyly |
OMIM:615983 |
| Multiple Metaphyseal Dysplasia |
|
Brachydactyly, Abnormal hip bone morphology, Abnormality of epiphysis morphology, Aplasia/Hypopla... |
ORPHA:93430 |
| Hirschsprung Disease-Type D Brachydactyly Syndrome |
|
Brachydactyly, Short distal phalanx of the thumb, Short phalanx of hallux |
ORPHA:2150 |
| Smith-Magenis syndrome |
|
Brachydactyly |
DECIPHER:8 |
| Chromosome 20Q11-Q12 Deletion Syndrome |
|
Brachydactyly, Tarsal osteovalgus, Adducted thumb, Finger clinodactyly, Camptodactyly |
OMIM:614257 |
| Deafness, Congenital, With Onychodystrophy, Autosomal Dominant |
|
Brachydactyly, Toe syndactyly, Bilateral triphalangeal thumbs, Triphalangeal thumb, Nail dystroph... |
OMIM:124480 |
| Camptobrachydactyly |
|
Brachydactyly, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Ulnar deviatio... |
ORPHA:1319 |
| Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Brachydactyly, Abnormal epiphysis morphology of the phalanges of the hand |
OMIM:619248 |
| Acromesomelic Dysplasia, Grebe Type |
|
Brachydactyly, Bowing of the long bones, Synostosis of carpal bones, Fibular hypoplasia, Aplasia/... |
ORPHA:2098 |
| Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Brachydactyly, Radial club hand, Short metacarpal, Thick eyebrow, Preaxial hand polydactyly, Syno... |
ORPHA:1278 |
| Pseudopseudohypoparathyroidism |
|
Brachydactyly, Short 5th metacarpal, Short distal phalanx of the thumb, Short 4th metacarpal, Sho... |
ORPHA:79445 |
| Brachydactyly Type E |
|
Upper limb asymmetry, Type E brachydactyly, Short metacarpal, Aplasia/Hypoplasia of the distal ph... |
ORPHA:93387 |
| Weyers Acrofacial Dysostosis |
|
Brachydactyly, Short palm, Postaxial foot polydactyly, Clinodactyly of the 5th finger, Postaxial ... |
OMIM:193530 |
| Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly |
|
Brachydactyly, Short proximal phalanx of finger, Short metacarpal, Short finger, Short toe, Pili ... |
OMIM:191482 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Short 5th metacarpal, Single transverse palmar crease, Short distal phalanx of the... |
ORPHA:370010 |
| Bardet-Biedl Syndrome 18 |
|
Brachydactyly |
OMIM:615995 |
| Spondyloperipheral Dysplasia |
|
Broad palm, Short thumb, Short distal phalanx of the 5th finger, Short toe, Brachydactyly, Flat c... |
OMIM:271700 |
| Camptobrachydactyly |
|
Brachydactyly, Hand polydactyly, Short toe, Congenital finger flexion contractures, Syndactyly |
OMIM:114150 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Brachydactyly, Acromesomelia, Abnormality of pelvic girdle bone morphology, Short metacarpal, Sho... |
ORPHA:968 |
| Metaphyseal Acroscyphodysplasia |
|
Brachydactyly, Genu varum, Bowing of the long bones, Cone-shaped metacarpal epiphyses, Coxa valga... |
ORPHA:1240 |
| Brachydactyly-Nystagmus-Cerebellar Ataxia |
|
Brachydactyly, Short metacarpal, Short metatarsal |
OMIM:113400 |
| Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Brachydactyly, Mesomelia, Abnormal shoulder morphology |
ORPHA:1277 |
| Acrocapitofemoral Dysplasia |
|
Small finger, Genu varum, Delayed ossification of carpal bones, Cone-shaped metacarpal epiphyses,... |
OMIM:607778 |
| Eng-Strom Syndrome |
|
Brachydactyly, Camptodactyly of finger |
ORPHA:1937 |
| Brachydactyly, Type E2 |
|
Brachydactyly, Short metacarpal, Short metatarsal |
OMIM:613382 |
| Non-Syndromic Bicoronal Craniosynostosis |
|
Brachydactyly, Metacarpal synostosis |
ORPHA:35099 |
| Pseudoachondroplasia |
|
Genu varum, Cone-shaped epiphysis, Abnormality of femoral epiphysis, Irregular carpal bones, Meta... |
ORPHA:750 |
| Trichothiodystrophy 9, Nonphotosensitive |
|
Brachydactyly, Sparse eyebrow, Nail dystrophy, Sparse hair, Tiger tail banding |
OMIM:619692 |
| 20Q11.2 Microdeletion Syndrome |
|
Brachydactyly, Adducted thumb, Camptodactyly, Finger clinodactyly |
ORPHA:444051 |
| Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Split foot, Hypoplasia of the ulna, Short finger, Syndactyly |
OMIM:314360 |
| Hypochondroplasia |
|
Brachydactyly, Genu varum, Bowing of the long bones, Abnormality of pelvic girdle bone morphology... |
ORPHA:429 |
| Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Type E brachydactyly, Short 4th metacarpal, Short metatarsal |
OMIM:113301 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Brachydactyly, Short distal phalanx of finger |
ORPHA:2787 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Brachydactyly, Single transverse palmar crease, Prominent interdigital folds, Short distal phalan... |
OMIM:601957 |
| Acromesomelic Dysplasia 3 |
|
Brachydactyly, Carpal synostosis, Hypoplasia of the ulna, Widened proximal tibial metaphyses, Apl... |
OMIM:609441 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Brachydactyly, Finger syndactyly, Fibular hypoplasia, Split hand, Abnormality of fibula morpholog... |
ORPHA:3329 |
| Orofaciodigital Syndrome Xviii |
|
Brachydactyly, Single transverse palmar crease, Sandal gap, Preaxial polydactyly, Short distal ph... |
OMIM:617927 |
| Acromesomelic Dysplasia 2B |
|
Brachydactyly, Deformed tarsal bones, Deviation of finger, Fibular hypoplasia, Rhizomelia, Short ... |
OMIM:228900 |
| Multiple Synostoses Syndrome 2 |
|
Brachydactyly, Carpal synostosis, Finger symphalangism, Humeroradial synostosis, Tarsal synostosi... |
OMIM:610017 |
| Acromicric Dysplasia |
|
Brachydactyly, Short palm, Abnormality of epiphysis morphology, Long eyelashes, Short metacarpal,... |
ORPHA:969 |
| Mal De Meleda |
|
Brachydactyly, Congenital symmetrical palmoplantar keratosis |
OMIM:248300 |
| Léri-Weill Dyschondrosteosis |
|
Abnormal hip bone morphology, Genu varum, Abnormality of the ulna, Clinodactyly of the 5th finger... |
ORPHA:240 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Brachydactyly, Abnormality of pelvic girdle bone morphology, Clinodactyly of the 5th finger, Abno... |
ORPHA:2370 |
| Achondroplasia |
|
Brachydactyly, Genu varum, Trident hand, Bowing of the legs, Short femoral neck, Rhizomelia, Limi... |
OMIM:100800 |
| Keipert Syndrome |
|
Brachydactyly, Clinodactyly, Broad hallux, Broad distal phalanx of finger, Broad thumb |
OMIM:301026 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Brachydactyly, Broad toe, Hypoplastic pubic bone, Delayed ossification of carpal bones, Cone-shap... |
OMIM:609616 |
| Short Stature-Obesity Syndrome |
|
Brachydactyly, Clinodactyly of the 5th finger, Limb undergrowth, Micromelia |
OMIM:269870 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Brachydactyly, Delayed ossification of carpal bones |
OMIM:618392 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Brachydactyly, Short 5th metacarpal, Sparse hair, Uncombable hair, Abnormality of the hand |
ORPHA:1264 |
| Tetralogy Of Fallot |
|
Brachydactyly, Clinodactyly of the 5th finger |
ORPHA:3303 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Short digit, Short 5th metacarpal, Abnormal hand morphology |
ORPHA:228190 |
| Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures |
|
Brachydactyly, High anterior hairline, Sparse lateral eyebrow |
OMIM:618879 |
| Brachydactyly, Type E1 |
|
Brachydactyly, Type E brachydactyly, Short metacarpal, Short clavicles, Short metatarsal |
OMIM:113300 |
| Craniosynostosis 3 |
|
Brachydactyly, Low anterior hairline, Single transverse palmar crease, Hallux valgus |
OMIM:615314 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Brachydactyly, Bowing of the legs, Lower limb undergrowth, Hirsutism |
OMIM:612847 |
| Charlie M Syndrome |
|
Brachydactyly, Finger syndactyly, Triphalangeal thumb, Split hand, Abnormal metacarpal morphology |
ORPHA:1406 |
| Sillence Syndrome |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal proximal phalanx morphology... |
ORPHA:3168 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Irregular epiphyses, Flattened epiphysis, Aplasia/hypoplasia involving bones of the extremities, ... |
ORPHA:1856 |
| Acrodysplasia Scoliosis |
|
Brachydactyly |
ORPHA:2956 |
| Metaphyseal Acroscyphodysplasia |
|
Brachydactyly, Genu varum, Cone-shaped metacarpal epiphyses, Coxa valga, Short palm, Cone-shaped ... |
OMIM:250215 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Brachytelomesophalangy, Osteoarthritis of the elbow, Protrusio acetabuli, Short toe, Abnormality ... |
ORPHA:2619 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Brachydactyly, Abnormality of pelvic girdle bone morphology, Micromelia, Ulnar deviation of finge... |
ORPHA:2928 |
| Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Brachydactyly, Flat capital femoral epiphysis, Irregular epiphyses, Flattened epiphysis, Prominen... |
OMIM:601560 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Brachydactyly, Flattened epiphysis, Fibular hypoplasia, Dislocated radial head, Rhizomelia, Fixed... |
ORPHA:166016 |
| Multiple Synostoses Syndrome 4 |
|
Brachydactyly, Overlapping toe, Tarsal synostosis |
OMIM:617898 |
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Brachydactyly, Coxa valga, Short phalanx of finger, Genu valgum, Epiphyseal dysplasia |
OMIM:132450 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Brachydactyly, Flat capital femoral epiphysis, Reduced proximal interphalangeal joint space, Abno... |
ORPHA:166011 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Brachydactyly, Clinodactyly, Syndactyly |
OMIM:610023 |
| Muenke Syndrome |
|
Brachydactyly, Clinodactyly, Thimble-shaped middle phalanges of hand, Cone-shaped epiphyses of th... |
OMIM:602849 |
| Anauxetic Dysplasia 2 |
|
Brachydactyly, Coxa valga, Hypoplasia of the femoral head, Short femoral neck, Cubitus valgus, Me... |
OMIM:617396 |
| Metatropic Dysplasia |
|
Brachydactyly, Halberd-shaped pelvis, Metaphyseal irregularity, Flared iliac wing, Flared humeral... |
OMIM:156530 |
| Summitt Syndrome |
|
Brachydactyly, Finger syndactyly, Short palm, Short 4th metacarpal, Clinodactyly of the 5th finge... |
ORPHA:3210 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Brachydactyly, Deviation of finger, Short metacarpal, Rhizomelia, Short humerus, Deformed humeral... |
ORPHA:2831 |
| Terminal Osseous Dysplasia |
|
Brachydactyly, Toe clinodactyly, Mesomelic leg shortening, Mesomelic arm shortening, Abnormal han... |
OMIM:300244 |
| Acromesomelic Dysplasia 2A |
|
Acromesomelia, Valgus hand deformity, Hypoplasia of the ulna, Fibular hypoplasia, Short phalanx o... |
OMIM:200700 |
| Jeune Syndrome |
|
Brachydactyly, Toe syndactyly, Abnormality of pelvic girdle bone morphology, Postaxial foot polyd... |
ORPHA:474 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Brachydactyly, Coxa magna, Cone-shaped epiphyses of the middle phalanges of the hand, Short palm,... |
OMIM:190351 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Brachydactyly, Cone-shaped epiphysis, Small hand, Delayed epiphyseal ossification |
OMIM:618618 |
| Camptodactyly Syndrome, Guadalajara, Type Ii |
|
Brachydactyly, Single transverse palmar crease, Patellar hypoplasia, Short 3rd toe, Short 5th toe... |
OMIM:211920 |
| Bardet-Biedl Syndrome 4 |
|
Brachydactyly, Syndactyly, Polydactyly |
OMIM:615982 |
| Brachydactyly, Type B1 |
|
Short long bone, Aplasia/Hypoplasia of the distal phalanges of the hand, Joint contracture of the... |
OMIM:113000 |
| Heart-Hand Syndrome, Slovenian Type |
|
Brachydactyly |
ORPHA:168796 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ectopic anus, Gastroschisis, Anencephaly, Hypoplastic left heart, Spina bifida, Ventricular septa... |
ORPHA:2476 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Acromicria, Abnormality of forearm bone, Broad femoral neck, Short thumb, Delayed femoral head os... |
ORPHA:93307 |
| Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Brachydactyly, Long eyelashes, Clinodactyly of the 5th finger, Thick eyebrow, Synophrys, Horizont... |
OMIM:618381 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Brachydactyly, Clinodactyly, Carpal synostosis, Short metacarpal, Highly arched eyebrow, Radiouln... |
OMIM:605282 |
| Carpenter Syndrome |
|
Brachydactyly, Toe syndactyly, Finger syndactyly, Preaxial foot polydactyly, Polydactyly, Postaxi... |
ORPHA:65759 |
| Pseudoachondroplasia |
|
Genu varum, Flared femoral metaphysis, Irregular carpal bones, Metaphyseal widening, Fragmented e... |
OMIM:177170 |
| Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome |
|
Short distal phalanx of finger, Brachytelomesophalangy |
ORPHA:1547 |
| Craniofacial Dysostosis With Diaphyseal Hyperplasia |
|
Brachydactyly, Limb undergrowth, Micromelia, Massively thickened long bone cortices |
OMIM:122900 |
| Cornelia De Lange Syndrome 2 |
|
Brachydactyly, Clinodactyly, Long eyelashes, Thick eyebrow, Highly arched eyebrow, Proximal place... |
OMIM:300590 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Brachydactyly, Short metacarpal, Short toe, Genu valgum, Short foot |
OMIM:614078 |
| Rhizomelic Syndrome, Urbach Type |
|
Brachydactyly, Abnormality of epiphysis morphology, Rhizomelia, Triphalangeal thumb, Short distal... |
ORPHA:3098 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Brachydactyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Short metacarpal, Rhizomelia,... |
OMIM:608940 |
| Leri Pleonosteosis |
|
Brachydactyly, Abnormality of epiphysis morphology, Elbow dislocation, Abnormality of the metaphy... |
ORPHA:2900 |
| Ulnar/Fibular Ray Defect And Brachydactyly |
|
Brachydactyly, Toe syndactyly, Bilateral talipes equinovarus, Unilateral ulnar hypoplasia, Fibula... |
OMIM:608571 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Brachydactyly, Clinodactyly, Widow's peak, Thick eyebrow, Short phalanx of finger, Small hand, Br... |
OMIM:614684 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Brachydactyly, Hypoplastic iliac wing, Hip dysplasia, Short distal phalanx of finger |
ORPHA:1858 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Sandal gap, Short metacarpal, ... |
OMIM:617102 |
| Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Brachydactyly, Short thumb, Broad hallux |
OMIM:165800 |
| Desbuquois Dysplasia 1 |
|
Genu varum, Broad first metatarsal, Sandal gap, Broad femoral neck, Short 1st metacarpal, Metaphy... |
OMIM:251450 |
| Intellectual Developmental Disorder, Autosomal Dominant 59 |
|
Brachydactyly, Short palm, Short foot, Highly arched eyebrow |
OMIM:618522 |
| Multiple Synostoses Syndrome 1 |
|
Carpal synostosis, Clinodactyly of the 5th finger, Absent distal phalanges, Brachydactyly, Short ... |
OMIM:186500 |
| Phenobarbital Embryopathy |
|
Brachydactyly, Aplasia/Hypoplasia of fingers |
ORPHA:1919 |
| Aminopterin Syndrome Sine Aminopterin |
|
Brachydactyly, Clinodactyly, Syndactyly, Short thumb, Highly arched eyebrow, Arachnodactyly, Rudi... |
OMIM:600325 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Brachydactyly, Acromesomelia, Bowing of the long bones |
ORPHA:40 |
| Hand-Foot-Genital Syndrome |
|
Brachydactyly, Small thenar eminence, Ulnar deviation of the 2nd finger, Delayed tarsal ossificat... |
OMIM:140000 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Partial duplication of the proximal phalanx of the 3rd finger, Brachydactyly, Tibial deviation of... |
ORPHA:363417 |
| Mesomelia-Synostoses Syndrome |
|
Brachydactyly, Synostosis of carpal bones, Abnormal eyebrow morphology, Clinodactyly of the 5th f... |
ORPHA:2496 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Brachydactyly, Short palm, Short metacarpal, Short phalanx of finger, Short thumb, Enlarged inter... |
OMIM:151200 |
| Microcephaly, Short Stature, And Limb Abnormalities |
|
Brachydactyly, Short metacarpal, Clinodactyly of the 5th finger, Dislocated radial head, Hypoplas... |
OMIM:617604 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Brachydactyly, Clinodactyly of the 5th finger, Thick eyebrow, Small hand, Bilateral single transv... |
ORPHA:444002 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Brachydactyly, Abnormal thumb morphology, Short palm, Cone-shaped epiphysis, Abnormality of the p... |
ORPHA:2511 |
| Nicolaides-Baraitser Syndrome |
|
Brachydactyly, Short palm, Abnormality of epiphysis morphology, Long eyelashes, Sandal gap, Abnor... |
ORPHA:3051 |
| Alopecia-Intellectual Disability Syndrome |
|
Brachydactyly, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Sparse body hair, Alopecia, ... |
ORPHA:2850 |
| Waardenburg Syndrome, Type 3 |
|
Brachydactyly, Clinodactyly, Carpal synostosis, Premature graying of hair, White forelock, Synoph... |
OMIM:148820 |
| Orofaciodigital Syndrome Vi |
|
Brachydactyly, Clinodactyly, Toe syndactyly, Central Y-shaped metacarpal, Preaxial hand polydacty... |
OMIM:277170 |
| Weill-Marchesani Syndrome 4 |
|
Brachydactyly |
OMIM:613195 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Brachydactyly, Sparse hair, Alopecia, Broad thumb |
OMIM:617763 |
| Satoyoshi Syndrome |
|
Brachydactyly, Short metacarpal, Osteolytic defects of the phalanges of the hand, Alopecia univer... |
OMIM:600705 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Genu varum, Abnormal ilium morphology, Short greater sciatic notch, Squared iliac bones, Abnormal... |
ORPHA:93314 |
| Cranioectodermal Dysplasia |
|
Brachydactyly, Finger syndactyly, Rhizomelia, Clinodactyly of the 5th finger, Short distal phalan... |
ORPHA:1515 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Metaphyseal irregularity, Hypoplastic pubic bone, Delayed pubic bone ossification,... |
OMIM:184250 |
| Craniofrontonasal Dysplasia |
|
Brachydactyly, Congenital pseudoarthrosis of the clavicle, Widow's peak, Finger syndactyly, Wooll... |
ORPHA:1520 |
| Dermatoosteolysis, Kirghizian Type |
|
Brachydactyly, Dystrophic toenail, Abnormality of the metaphysis, Dystrophic fingernails, Tarsal ... |
ORPHA:1657 |
| Acrocephalopolydactyly |
|
Brachydactyly, Limb undergrowth, Short long bone |
ORPHA:221054 |
| Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness |
|
Brachydactyly, Narrow iliac wing, Genu varum, Metaphyseal irregularity, Short long bone, Short pa... |
OMIM:250420 |
| Potocki-Shaffer Syndrome |
|
Brachydactyly, 2-5 finger cutaneous syndactyly, Single transverse palmar crease, Sparse lateral e... |
OMIM:601224 |
| Odontochondrodysplasia 1 |
|
Brachydactyly, Genu varum, Irregular epiphyses, Delayed ossification of carpal bones, Flared ilia... |
OMIM:184260 |
| Thai Symphalangism Syndrome |
|
Brachydactyly, Postaxial foot polydactyly, Proximal symphalangism of hands, Distal symphalangism ... |
OMIM:608028 |
| Erythrokeratodermia Variabilis |
|
Brachydactyly, Generalized hirsutism, Abnormal hair morphology, Tapered finger, Alopecia, Patchy ... |
ORPHA:317 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Brachydactyly, Short middle phalanx of finger |
ORPHA:1436 |
| Pelviscapular Dysplasia |
|
Brachydactyly, Abnormality of the joint spaces of the elbow, Mesomelic leg shortening, Hypoplasti... |
ORPHA:93333 |
| Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Brachydactyly, Tapered finger, Short finger, Short toe |
OMIM:610680 |
| Thanatophoric Dysplasia, Type Ii |
|
Brachydactyly, Metaphyseal irregularity, Short greater sciatic notch, Flared metaphysis, Small ab... |
OMIM:187601 |
| Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Brachydactyly |
OMIM:617169 |
| Spastic Paraplegia 20, Autosomal Recessive |
|
Brachydactyly, Clinodactyly, Hammertoe, Camptodactyly, Short foot |
OMIM:275900 |
| Bardet-Biedl Syndrome 9 |
|
Brachydactyly, Postaxial foot polydactyly, Polydactyly, Postaxial hand polydactyly, Postaxial pol... |
OMIM:615986 |
| Coffin-Siris Syndrome 2 |
|
Brachydactyly, Aplasia/Hypoplasia of the distal phalanges of the hand, Long eyelashes, Thick eyeb... |
OMIM:614607 |
| Chromosome 15Q26-Qter Deletion Syndrome |
|
Brachydactyly, Talipes equinovarus, Short middle phalanx of finger |
OMIM:612626 |
| Abruzzo-Erickson Syndrome |
|
Brachydactyly, Toe syndactyly, Radioulnar synostosis, Short toe, Ulnar deviation of finger |
ORPHA:921 |
| Non-Distal Monosomy 10Q |
|
Brachydactyly, Clinodactyly of the 5th finger, Overlapping fingers, Synophrys, Bilateral single t... |
ORPHA:1581 |
| Anauxetic Dysplasia 3 |
|
Brachydactyly, Broad middle phalanx of finger, Trident hand, Short metacarpal, Squared iliac bone... |
OMIM:618853 |
| Lowry-Wood Syndrome |
|
Brachydactyly, Irregular epiphyses, Abnormality of epiphysis morphology, Dislocated radial head, ... |
ORPHA:1824 |
| Keratoconus Posticus Circumscriptus |
|
Brachydactyly, Clinodactyly of the 5th finger, Limited elbow extension and supination |
OMIM:244600 |
| Brachydactyly, Type A1, With Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, And Mental Retardation |
|
Brachydactyly, Short proximal phalanx of finger, Aplasia/Hypoplasia of toe, Short middle phalanx ... |
OMIM:613627 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Brachydactyly, Clinodactyly |
OMIM:618048 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Brachydactyly, Single transverse palmar crease, Sandal gap, Thick eyebrow, Fine hair, Micromelia,... |
OMIM:614800 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Brachydactyly, Rhizomelia, Hypoplastic scapulae, Micromelia, Dumbbell-shaped long bone, Metaphyse... |
ORPHA:440354 |
| Frontonasal Dysplasia 1 |
|
Brachydactyly, Clinodactyly, Widow's peak, Pectoral muscle hypoplasia/aplasia, Postaxial hand pol... |
OMIM:136760 |
| Ruvalcaba Syndrome |
|
Brachydactyly, Synostosis of carpal bones, Generalized hirsutism, Short metacarpal, Clinodactyly ... |
ORPHA:3121 |
| Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Brachydactyly, Short long bone, Multiple rows of eyelashes, Thick eyebrow, Aplasia/Hypoplasia inv... |
ORPHA:163654 |
| Corneodermatoosseous Syndrome |
|
Brachydactyly, Short distal phalanx of finger, Palmoplantar hyperkeratosis |
OMIM:122440 |
| Moebius Syndrome |
|
Brachydactyly, Clinodactyly, Abnormality of pelvic girdle bone morphology, Short phalanx of finge... |
OMIM:157900 |
| Jansen-De Vries Syndrome |
|
Brachydactyly, Short foot, Small hand |
OMIM:617450 |
| Urban-Rogers-Meyer Syndrome |
|
Brachydactyly, Toe syndactyly, Abnormality of epiphysis morphology, Clinodactyly of the 5th finge... |
ORPHA:3409 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Squared iliac bones, Limb undergrowth, Short long bone, Metaphyseal widening, Coar... |
OMIM:618961 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Brachydactyly, Flattened epiphysis, Short femoral neck, Flared iliac wing, Cone-shaped capital fe... |
OMIM:300232 |
| Schneckenbecken Dysplasia |
|
Brachydactyly, Advanced ossification of carpal bones, Metaphyseal irregularity, Advanced tarsal o... |
OMIM:269250 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Brachydactyly, Short palm, Rhizo-meso-acromelic limb shortening, Short metacarpal, Short phalanx ... |
OMIM:611717 |
| Al-Raqad Syndrome |
|
Brachydactyly, Sandal gap |
OMIM:616459 |
| Nicolaides-Baraitser Syndrome |
|
Brachydactyly, Short metacarpal, Sandal gap, Short phalanx of finger, Sparse scalp hair, Absent e... |
OMIM:601358 |
| Temtamy Syndrome |
|
Brachydactyly, Genu varum, Clinodactyly of the 5th finger, Short toe |
ORPHA:1777 |
| Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Brachydactyly, Toe syndactyly, Broad toe, 2-3 toe syndactyly, Postaxial foot polydactyly, Clinoda... |
OMIM:263540 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Brachydactyly, Fair hair, Short metacarpal, Cone-shaped epiphysis, Short phalanx of finger, Red h... |
OMIM:614613 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Cone-shaped metacarpal epiphyses, Delayed ossification of carpal bones, Prominent styloid process... |
OMIM:300106 |
| Orofaciodigital Syndrome Iv |
|
Brachydactyly, Clinodactyly, Toe syndactyly, Foot polydactyly, Hand polydactyly, Short tibia, Sho... |
OMIM:258860 |
| Chst3-Related Skeletal Dysplasia |
|
Brachydactyly, Irregular epiphyses, Short metacarpal, Rhizomelia, Sparse eyebrow, Small epiphyses... |
ORPHA:263463 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Brachydactyly, Clinodactyly of the 5th finger, Down-sloping shoulders, Synophrys |
ORPHA:1390 |
| Roifman Syndrome |
|
Brachydactyly, Prominent eyelashes, Irregular capital femoral epiphysis, Delayed proximal femoral... |
ORPHA:353298 |
| Holt-Oram Syndrome |
|
Absent thumb, Small thenar eminence, Hypoplasia of the ulna, Phocomelia, Absent radius, Triphalan... |
OMIM:142900 |
| Roifman Syndrome |
|
Brachydactyly, Prominent eyelashes, Single transverse palmar crease, Short metacarpal, Clinodacty... |
OMIM:616651 |
| Dyggve-Melchior-Clausen Disease |
|
Genu varum, Clinodactyly of the 5th finger, Rhizomelic arm shortening, Broad palm, Hypoplastic il... |
OMIM:223800 |
| Atelosteogenesis Type Ii |
|
Sandal gap, Rhizomelic arm shortening, Micromelia, Ulnar deviation of the hand or of fingers of t... |
ORPHA:56304 |
| Laurence-Moon Syndrome |
|
Brachydactyly, Bilateral single transverse palmar creases, Finger syndactyly, Hand polydactyly |
ORPHA:2377 |
| Poland Syndrome |
|
Unilateral brachydactyly, Unilateral oligodactyly, Hypoplasia of deltoid muscle, Syndactyly |
OMIM:173800 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Brachydactyly, Short long bone, Postaxial polydactyly |
OMIM:615633 |
| Pseudohypoparathyroidism, Type Ib |
|
Brachydactyly, Short metacarpal |
OMIM:603233 |
| Pycnodysostosis |
|
Brachydactyly, Osteolytic defects of the distal phalanges of the hand, Abnormality of pelvic gird... |
OMIM:265800 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Brachydactyly, Toe syndactyly, Highly arched eyebrow, Short distal phalanx of finger, Synophrys, ... |
ORPHA:1327 |
| Bardet-Biedl Syndrome 3 |
|
Brachydactyly, Postaxial polydactyly |
OMIM:600151 |
| Coffin-Siris Syndrome 7 |
|
Brachydactyly, Clinodactyly, Thick eyebrow, Sparse scalp hair |
OMIM:618027 |
| Oculomaxillofacial Dysostosis |
|
Brachydactyly, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash morphology, Adducted thumb, Sp... |
ORPHA:1794 |
| Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome |
|
Brachydactyly, Palmoplantar keratoderma, Cone-shaped epiphysis, Arachnodactyly, Sparse scalp hair |
ORPHA:2824 |
| Schaaf-Yang Syndrome |
|
Brachydactyly, Clinodactyly, Rocker bottom foot, Thick eyebrow, Tapered finger, Narrow palm, Smal... |
OMIM:615547 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Brachydactyly, Short long bone, Polydactyly |
OMIM:613819 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Brachydactyly, Clinodactyly, Partial duplication of the phalanx of hand, Short distal phalanx of ... |
OMIM:616331 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Brachydactyly, Pseudoepiphyses of the metacarpals, Clinodactyly of the 5th finger, Cone-shaped ep... |
OMIM:210720 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Bowing of the long bones, Brachydactyly, Short long bone, Aplasia/Hypoplasia of the eyebrow, Hypo... |
OMIM:614091 |
| Marinesco-Sjögren Syndrome |
|
Brachydactyly, Coxa valga, Short palm, Metatarsus valgus, Abnormality of finger, Avascular necros... |
ORPHA:559 |
| Lowry-Wood Syndrome |
|
Brachydactyly, Irregular epiphyses, Shallow acetabular fossae, Clinodactyly of the 5th finger, Sq... |
OMIM:226960 |
| Cardiospondylocarpofacial Syndrome |
|
Brachydactyly, Short palm, Synostosis of carpal bones |
ORPHA:3238 |
| Pfeiffer Syndrome |
|
Brachydactyly, Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Fin... |
ORPHA:710 |
| Greenberg Dysplasia |
|
Brachydactyly, Rhizomelia, Abnormal pelvis bone ossification, Micromelia |
ORPHA:1426 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Abnormal hip bone morphology, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Genu valgum,... |
ORPHA:457395 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Brachydactyly, Clinodactyly, Long eyelashes, Broad thumb, Camptodactyly, Mesomelia |
OMIM:618529 |
| Acrodysostosis |
|
Brachydactyly, Abnormality of the ulna, Hypoplasia of the ulna, Short metacarpal, Epiphyseal stip... |
ORPHA:950 |
| Progressive Osseous Heteroplasia |
|
Brachydactyly |
ORPHA:2762 |
| Achondroplasia |
|
Brachydactyly, Bowing of the legs, Trident hand, Hip joint hypermobility, Short proximal phalanx ... |
ORPHA:15 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Brachydactyly, 2-3 toe syndactyly, Cone-shaped epiphysis, Tapered finger, Broad hallux, Long fing... |
OMIM:618659 |
| Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Brachydactyly, Clinodactyly, Talipes equinovarus, Hypertrichosis, Camptodactyly |
OMIM:616354 |
| Eiken Syndrome |
|
Clinodactyly, Flattened epiphysis, Delayed ossification of carpal bones, Type A1 brachydactyly, F... |
OMIM:600002 |
| Otospondylomegaepiphyseal Dysplasia |
|
Brachydactyly, Abnormal pelvis bone morphology, Short metacarpal, Sandal gap, Flared femoral meta... |
ORPHA:1427 |
| Pseudopseudohypoparathyroidism |
|
Brachydactyly, Short metacarpal, Short metatarsal |
OMIM:612463 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Micromelia, Split hand, Finger syndactyly, Brachydactyly |
ORPHA:2145 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Brachydactyly, Single transverse palmar crease, 2-3 toe syndactyly, Cutaneous syndactyly, Clinoda... |
OMIM:236500 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Brachydactyly, Widow's peak, Short foot |
OMIM:266265 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Brachydactyly, Irregular epiphyses, Rhizomelia, Short finger, Broad thumb, Metaphyseal widening, ... |
OMIM:612813 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Brachydactyly |
OMIM:610498 |
| Pde4D Haploinsufficiency Syndrome |
|
Brachydactyly, Bilateral coxa valga, Short metacarpal, Cone-shaped epiphysis, Short phalanx of fi... |
ORPHA:439822 |
| Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia |
|
Brachydactyly, Sandal gap |
OMIM:600991 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Brachydactyly, Rhizomelia, Supernumerary nipple, Acetabular spurs, Broad long bone diaphyses, Sho... |
OMIM:614376 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Brachydactyly, Clinodactyly, Camptodactyly |
OMIM:613604 |
| Weill-Marchesani Syndrome 3 |
|
Brachydactyly |
OMIM:614819 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Bowing of the long bones, Bowing of the legs, Brachydactyly, Metaphyseal irregularity, Abnormalit... |
ORPHA:85167 |
| Bardet-Biedl Syndrome 17 |
|
Brachydactyly, Mesoaxial polydactyly, Postaxial foot polydactyly, Polydactyly, Postaxial hand pol... |
OMIM:615994 |
| Hall-Riggs Syndrome |
|
Brachydactyly, Coarse hair, Abnormality of epiphysis morphology, Slow-growing hair, Thick hair, A... |
ORPHA:2107 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Brachydactyly, Camptodactyly of finger, Long eyelashes |
ORPHA:2863 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Brachydactyly, Dislocated radial head, Short thumb, Limited elbow extension and supination, Synop... |
ORPHA:401935 |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Brachydactyly, Short distal phalanx of finger, Synophrys, Genu valgum, Abnormal metacarpal morpho... |
ORPHA:1295 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Brachydactyly, Abnormality of epiphysis morphology |
ORPHA:2643 |
| Carpenter Syndrome 1 |
|
Brachydactyly, Genu varum, Duplication of the proximal phalanx of the hallux, Aplasia/Hypoplasia ... |
OMIM:201000 |
| Mohr Syndrome |
|
Brachydactyly, Metaphyseal irregularity, Partial duplication of the phalanges of the hallux, Post... |
OMIM:252100 |
| Cono-Spondylar Dysplasia |
|
Brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short 4th toe, Short humerus, ... |
ORPHA:420794 |
| Cardioacrofacial Dysplasia 2 |
|
Brachydactyly, Clubbing, Postaxial foot polydactyly, Clinodactyly of the 5th finger, Postaxial ha... |
OMIM:619143 |
| Acrofrontofacionasal Dysostosis |
|
Brachydactyly, Abnormality of epiphysis morphology, Aplasia/Hypoplasia of the eyebrow, Micromelia... |
ORPHA:1784 |
| Adams-Oliver Syndrome 6 |
|
Brachydactyly, Foot oligodactyly, Syndactyly |
OMIM:616589 |
| Opsismodysplasia |
|
Brachydactyly, Hypoplastic ischia, Hypoplastic pubic bone, Abnormality of epiphysis morphology, T... |
ORPHA:2746 |
| 20P13 Microdeletion Syndrome |
|
Brachydactyly, Clinodactyly, Finger syndactyly, Highly arched eyebrow, Polydactyly, Synophrys |
ORPHA:313781 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Brachydactyly, Hypoplasia of the ulna, Short long bone, Fibular hypoplasia, Absent tibia, Metaphy... |
OMIM:613091 |
| Larsen Syndrome |
|
Brachydactyly, Finger syndactyly, Abnormality of epiphysis morphology, Broad distal phalanx of fi... |
ORPHA:503 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Brachydactyly, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Low posterior hairline, Abno... |
ORPHA:2701 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Brachydactyly, Synostosis of carpal bones, Finger syndactyly, Clinodactyly of the 5th finger, Sho... |
ORPHA:1005 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Fibular hypoplasia, Mesomelic leg shortening, Hypoplastic iliac wing, Short toe, Hand monodactyly... |
OMIM:609945 |
| Müllerian Aplasia And Hyperandrogenism |
|
Brachydactyly, Thick eyebrow, Frontal balding, Cubitus valgus, High anterior hairline, Synophrys,... |
ORPHA:247768 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Brachydactyly, Widened greater sciatic notch, Metaphyseal irregularity, Cone-shaped metacarpal ep... |
OMIM:250220 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Brachydactyly, Hypoplastic ischia, Single transverse palmar crease, 2-3 toe syndactyly, Preaxial ... |
OMIM:617866 |
| Weill-Marchesani Syndrome |
|
Brachydactyly, Short thumb |
ORPHA:3449 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Brachydactyly, Hypoplasia of the radius, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Syn... |
OMIM:617895 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Brachydactyly, Finger joint hypermobility, Single transverse palmar crease, Scapular winging, 2-3... |
OMIM:618870 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Brachydactyly, Clinodactyly, Highly arched eyebrow, Synophrys |
OMIM:617062 |
| Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Brachydactyly, Hypoplasia of the ulna, Single transverse palmar crease, Rhizomelia, Hypoplasia of... |
OMIM:602613 |
| Thanatophoric Dysplasia |
|
Brachydactyly, Abnormal ilium morphology, Micromelia, Abnormal sacroiliac joint morphology, Abnor... |
ORPHA:2655 |
| Bent Bone Dysplasia Syndrome |
|
Brachydactyly, Short clavicles, Hirsutism |
OMIM:614592 |
| 2Q37 Microdeletion Syndrome |
|
Brachydactyly, Toe syndactyly, Finger syndactyly, Short palm, Short metacarpal, Clinodactyly of t... |
ORPHA:1001 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Brachydactyly, Toe syndactyly, Short palm, Short metacarpal, Clinodactyly of the 5th finger, Shor... |
OMIM:170390 |
| 16P12.1P12.3 Triplication Syndrome |
|
Brachydactyly, 2-3 toe syndactyly, Thick eyebrow, Clinodactyly of the 4th finger, Tapered finger,... |
ORPHA:485405 |
| 2Q31.1 Microdeletion Syndrome |
|
Brachydactyly, Broad hallux phalanx, Abnormality of the ulna, Toe syndactyly, Finger syndactyly, ... |
ORPHA:251014 |
| Cryptomicrotia-Brachydactyly Syndrome |
|
Brachytelomesophalangy |
OMIM:123560 |
| Hall-Riggs Mental Retardation Syndrome |
|
Brachydactyly, Metaphyseal dysplasia |
OMIM:234250 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Brachydactyly, Postaxial polydactyly, Preaxial polydactyly, Acetabular spurs, Short long bone, Fe... |
OMIM:615503 |
| Laron Syndrome |
|
Brachydactyly, Short toe, Abnormality of the elbow |
ORPHA:633 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Brachydactyly, Short toe |
ORPHA:3085 |
| Specific Granule Deficiency 2 |
|
Brachydactyly, Sandal gap, Hirsutism |
OMIM:617475 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Brachydactyly, Single transverse palmar crease, Delayed ossification of carpal bones, Coxa valga,... |
OMIM:617425 |
| Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Osteolytic defects of the phalanges of the hand, Sparse hair, Slender long bone |
OMIM:601812 |
| Frank-Ter Haar Syndrome |
|
Brachydactyly, Camptodactyly of finger, Clinodactyly of the 5th finger, Abnormal metacarpal morph... |
ORPHA:137834 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Exencephaly, Encephalocele |
ORPHA:2211 |
| Suleiman-El-Hattab Syndrome |
|
Brachydactyly, Clinodactyly, Single transverse palmar crease, Frontal hirsutism, Thick eyebrow, H... |
OMIM:618950 |
| Temtamy Syndrome |
|
Brachydactyly, Short 2nd toe, Highly arched eyebrow, Talipes equinovarus, Hip dislocation |
OMIM:218340 |
| 15Q24 Microdeletion Syndrome |
|
Abnormality of toe, Clinodactyly, Abnormal thumb morphology, Brachydactyly, Broad eyebrow, Proxim... |
ORPHA:94065 |
| Microcephaly-Capillary Malformation Syndrome |
|
Brachydactyly, Clinodactyly, Abnormal hair whorl, Short distal phalanx of finger |
OMIM:614261 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Brachydactyly, 2-3 toe syndactyly, Clinodactyly of the 5th finger, Synophrys, Talipes equinovarus |
ORPHA:3306 |
| Trichorhinophalangeal Syndrome Type 2 |
|
Brachydactyly, Bilateral single transverse palmar creases, Cone-shaped epiphyses of the phalanges... |
ORPHA:502 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Brachydactyly, Short digit, Sparse eyebrow, Short distal phalanx of finger, Proximal placement of... |
OMIM:615789 |
| Rubinstein-Taybi Syndrome |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Generalized hirsutism, Finger syndac... |
ORPHA:783 |
| Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Brachydactyly, Short greater sciatic notch, Femoral bowing, Micromelia,... |
ORPHA:1860 |
| Fountain Syndrome |
|
Brachydactyly, Thick eyebrow, Large hands, Short distal phalanx of finger, Synophrys, Metaphyseal... |
ORPHA:3219 |
| Atelosteogenesis, Type I |
|
Brachydactyly, Clubbing, Short metacarpal, Rhizomelia, Tibial bowing, Club-shaped proximal femur,... |
OMIM:108720 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Brachydactyly, Single transverse palmar crease, 2-3 toe syndactyly, Sandal gap, Clinodactyly of t... |
OMIM:617061 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Postaxial hand polydactyly, Sh... |
OMIM:615630 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Brachydactyly, Abnormal hair pattern, Broad thumb, Bilateral single transverse palmar creases, La... |
ORPHA:1770 |
| Short Rib-Polydactyly Syndrome |
|
Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, Cone-shaped epiphy... |
ORPHA:1505 |
| Lujan-Fryns Syndrome |
|
Brachydactyly, Camptodactyly of finger, Arachnodactyly |
ORPHA:776 |
| Acrofacial Dysostosis, Catania Type |
|
Brachydactyly, Finger syndactyly, Short palm, Coarse hair, Clinodactyly of the 5th finger, Abnorm... |
ORPHA:1786 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Brachydactyly, Clinodactyly, Short femoral neck, Short metacarpal, Rhizomelia, Cone-shaped epiphy... |
OMIM:614813 |
| Aarskog-Scott Syndrome |
|
Brachydactyly, Clinodactyly, Widow's peak, Single transverse palmar crease, Short palm, Broad pal... |
OMIM:305400 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Brachydactyly, Sandal gap, Short foot, Small hand |
OMIM:300354 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Brachydactyly, Rhizomelia, Mesomelia, Broad thumb |
ORPHA:171866 |
| Lymphedema-Hypoparathyroidism Syndrome |
|
Brachydactyly, Increased carrying angle, Hypertrichosis |
OMIM:247410 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Brachydactyly, Bowing of the legs, Hypoplastic ischia, Steep acetabular roof, Incomplete ossifica... |
ORPHA:313855 |
| Feingold Syndrome |
|
Brachydactyly, Toe syndactyly, Deviation of the 2nd finger, Clinodactyly of the 5th finger, Hallu... |
ORPHA:1305 |
| Tonne-Kalscheuer Syndrome |
|
Brachydactyly, Fine hair, Broad thumb |
OMIM:300978 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Brachydactyly, Small thenar eminence, 2-3 toe syndactyly, Sandal gap, Joint contracture of the 5t... |
OMIM:618914 |
| Adams-Oliver Syndrome |
|
Brachydactyly, Finger syndactyly, Alopecia, Sparse hair, Short distal phalanx of finger, Absent h... |
ORPHA:974 |
| Cleidocranial Dysplasia |
|
Brachydactyly, Abnormal thumb morphology, Hypoplastic inferior ilia, Abnormality of pelvic girdle... |
ORPHA:1452 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Brachydactyly, Abnormal hair pattern, Highly arched eyebrow, Camptodactyly of finger, Bilateral s... |
ORPHA:2083 |
| Vitamin K Antagonist Embryofetopathy |
|
Brachydactyly, Epiphyseal stippling, Short distal phalanx of finger |
ORPHA:1914 |
| Alg6-Cdg |
|
Brachydactyly, Shortening of all distal phalanges of the fingers |
ORPHA:79320 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Brachydactyly, Short distal phalanx of finger, Generalized hirsutism |
ORPHA:1563 |
| Smith-Magenis Syndrome |
|
Brachydactyly, Short palm, Abnormality of the forearm, Broad palm, Synophrys |
OMIM:182290 |
| Pseudohypoparathyroidism, Type Ia |
|
Brachydactyly, Short metacarpal, Short finger, Short toe, Short metatarsal |
OMIM:103580 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Brachydactyly, Single transverse palmar crease, 2-3 toe syndactyly, Short femoral neck, Clinodact... |
OMIM:614701 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Brachydactyly, Clinodactyly of the 5th finger, Coxa valga, Short distal phalanx of finger |
ORPHA:2163 |
| Roberts Syndrome |
|
Brachydactyly, Synostosis of carpal bones, Bowing of the long bones, Finger syndactyly, Phocomeli... |
ORPHA:3103 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Brachydactyly, Abnormal metacarpal morphology |
ORPHA:93262 |
| Codas Syndrome |
|
Brachydactyly, Abnormality of pelvic girdle bone morphology, Abnormality of epiphysis morphology,... |
ORPHA:1458 |
| Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Brachydactyly, Generalized hirsutism, Symphalangism affecting the phalanges of the hand, Clinodac... |
ORPHA:1292 |
| Moebius Syndrome |
|
Brachydactyly, Abnormality of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Clino... |
ORPHA:570 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Brachydactyly, Short metacarpal, Short metatarsal |
OMIM:617157 |
| Craniosynostosis 2 |
|
Brachydactyly, Triphalangeal thumb |
OMIM:604757 |
| Craniorachischisis |
|
Myelomeningocele, Cervical spina bifida, Anencephaly, Anal atresia, Sirenomelia, Omphalocele, Spi... |
ORPHA:63260 |
| Chitayat Syndrome |
|
Brachydactyly, Hallux valgus |
OMIM:617180 |
| Endocrine-Cerebroosteodysplasia |
|
Brachydactyly, Sandal gap, Preaxial polydactyly, Polydactyly, Micromelia, Ulnar deviation of the ... |
OMIM:612651 |
| Lethal Kniest-Like Dysplasia |
|
Brachydactyly, Flared metaphysis, Mesomelic/rhizomelic limb shortening, Broad long bones, Talipes... |
ORPHA:2347 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Brachydactyly, Toe syndactyly, Single transverse palmar crease, Long eyelashes, Clinodactyly of t... |
OMIM:610759 |
| Coffin-Siris Syndrome 6 |
|
Brachydactyly, Clinodactyly |
OMIM:617808 |
| Rhyns Syndrome |
|
Brachydactyly, Radial bowing, Short femoral neck |
OMIM:602152 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Brachydactyly |
OMIM:618265 |
| Corneodermatoosseous Syndrome |
|
Brachydactyly, Palmoplantar keratoderma, Short palm, Abnormality of the hand, Abnormal metacarpal... |
ORPHA:3194 |
| Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Ectopia cordis, Anencephaly, Omphalocele, Cleft palate, Hydrocephalus, ... |
OMIM:313850 |
| Oculodentodigital Dysplasia |
|
Brachydactyly, Clinodactyly, Toe syndactyly, Palmoplantar keratoderma, Finger syndactyly, Brittle... |
ORPHA:2710 |
| Aredyld Syndrome |
|
Brachydactyly, Aplasia/Hypoplasia of the eyebrow, Abnormality of pelvic girdle bone morphology, S... |
ORPHA:1133 |
| Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Brachydactyly |
ORPHA:436245 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Brachydactyly, Short metacarpal, Sparse eyebrow, Metaphyseal chondrodysplasia, Short distal phala... |
OMIM:250410 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Brachydactyly, Short fourth metatarsal, Patellar hypoplasia |
ORPHA:464288 |
| Distal Monosomy 10Q |
|
Brachydactyly, Clinodactyly, Widow's peak, Single transverse palmar crease, Sandal gap, Clinodact... |
ORPHA:96148 |
| Chromosome 17Q12 Duplication Syndrome |
|
Brachydactyly, Broad thumb |
OMIM:614526 |
| Thanatophoric Dysplasia Type 2 |
|
Micromelia, Abnormality of the metaphysis, Brachydactyly |
ORPHA:93274 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Brachydactyly, Clinodactyly, Sandal gap, Scarring alopecia of scalp, 3-4 toe syndactyly, Broad ha... |
OMIM:618727 |
| Cardiospondylocarpofacial Syndrome |
|
Brachydactyly, Carpal synostosis, Cone-shaped epiphysis, Pseudoepiphyses, Tarsal synostosis, Shor... |
OMIM:157800 |
| Gorlin Syndrome |
|
Brachydactyly, Arachnodactyly, Palmar pits |
ORPHA:377 |
| Kniest-Like Dysplasia, Lethal |
|
Brachydactyly, Metaphyseal irregularity, Rhizomelia, Flared metaphysis, Dumbbell-shaped long bone... |
OMIM:245190 |
| Atelosteogenesis Type I |
|
Brachydactyly, Rhizomelia, Abnormality of fibula morphology, Abnormal ossification involving the ... |
ORPHA:1190 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Brachydactyly, Clinodactyly of the 5th finger, Elbow dislocation, Postaxial hand polydactyly, Low... |
ORPHA:2916 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Brachydactyly, Sandal gap |
ORPHA:2180 |
| Radio-Tartaglia Syndrome |
|
Brachydactyly, Long eyebrows, Long eyelashes, Thick eyebrow, Tapered finger, Highly arched eyebro... |
OMIM:619312 |
| Monosomy 18P |
|
Brachydactyly, Low posterior hairline, Alopecia |
ORPHA:1598 |
| Cranioectodermal Dysplasia 3 |
|
Brachydactyly, Sandal gap, Fine hair, Sparse hair, Postaxial polydactyly, Short nail, Syndactyly |
OMIM:614099 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Brachydactyly, Irregular epiphyses, Metaphyseal irregularity, 2-3 toe syndactyly, Rhizomelia, Elb... |
OMIM:618162 |
| Nivelon-Nivelon-Mabille Syndrome |
|
Micromelia, Short phalanx of finger, Short metacarpal, Brachydactyly |
OMIM:600092 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Brachydactyly, Patchy alopecia, Thick eyebrow, Short distal phalanx of finger, Cubitus valgus, Ta... |
OMIM:300534 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Brachydactyly, Irregular epiphyses, Metaphyseal irregularity, Hypoplasia of the ulna, Foot polyda... |
OMIM:208500 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Brachydactyly, Metaphyseal irregularity, Thick eyebrow, Tapered finger, Congenital hip dislocatio... |
OMIM:616007 |
| Hypoglossia-Hypodactyly Syndrome |
|
Brachydactyly, Finger syndactyly, Adactyly, Aplasia/Hypoplasia of fingers, Short distal phalanx o... |
ORPHA:989 |
| Saethre-Chotzen Syndrome |
|
Brachydactyly, Finger syndactyly, Clinodactyly of the 5th finger, Triphalangeal thumb, Abnormal h... |
ORPHA:794 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Brachydactyly, Short metacarpal, Absent eyelashes, Metaphyseal chondrodysplasia, Absent eyebrow, ... |
ORPHA:166035 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Brachydactyly, Abnormality of epiphysis morphology, Clinodactyly of the 5th finger, Aplasia/Hypop... |
ORPHA:2637 |
| Rin2 Syndrome |
|
Brachydactyly, Hirsutism, Sparse scalp hair |
ORPHA:217335 |
| Grange Syndrome |
|
Brachydactyly, Syndactyly, Finger clinodactyly |
OMIM:602531 |
| Cranioectodermal Dysplasia 1 |
|
Brachydactyly, Clinodactyly, Flattened epiphysis, Broad toe, Single transverse palmar crease, Bro... |
OMIM:218330 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Brachydactyly, Clinodactyly, 4-5 toe syndactyly, Rocker bottom foot, Clinodactyly of the 5th fing... |
ORPHA:488642 |
| Adams-Oliver Syndrome 5 |
|
Brachydactyly, Dystrophic toenail, Syndactyly |
OMIM:616028 |
| Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
