| Sugarman Brachydactyly |
|
Symphalangism affecting the proximal phalanges of the hand, Short proximal phalanx of finger, Pro... |
OMIM:272150 |
| Brachydactyly, Type A3 |
|
Rhomboid or triangular shaped 5th finger middle phalanx, Short middle phalanx of the 5th finger, ... |
OMIM:112700 |
| Brachydactyly, Type D |
|
Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly |
OMIM:113200 |
| Familial Digital Arthropathy-Brachydactyly |
|
Osteoarthritis of the small joints of the hand, Shortening of all middle phalanges of the toes, S... |
ORPHA:85169 |
| Brachydactyly, Type C |
|
Hypersegmentation of proximal phalanx of third finger, Short middle phalanx of the 2nd finger, Tr... |
OMIM:113100 |
| Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay |
|
Type A1 brachydactyly |
OMIM:188201 |
| Digital Arthropathy-Brachydactyly, Familial |
|
Short middle phalanx of toe, Brachytelomesophalangy, Short distal phalanx of toe, Radial deviatio... |
OMIM:606835 |
| Brachydactyly, Type A1, C |
|
Short middle phalanx of the 4th finger, Short middle phalanx of the 5th finger, Short middle phal... |
OMIM:615072 |
| Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Postaxial hand polydactyly, Short thumb, Short 2nd toe, Brachydactyly |
OMIM:176305 |
| Triphalangeal Thumbs With Brachyectrodactyly |
|
Triphalangeal thumb, Short 3rd toe, Split foot, Split hand, Brachydactyly, Short 2nd finger |
OMIM:190680 |
| Cleidorhizomelic Syndrome |
|
Short middle phalanx of the 5th finger, Clinodactyly of the 5th finger, Bilateral single transver... |
ORPHA:1453 |
| Brachydactyly, Type A1 |
|
Aplasia/Hypoplasia of the middle phalanges of the toes, Flattened metatarsal heads, Short metacar... |
OMIM:112500 |
| Brachydactyly, Type A1, B |
|
Broad distal hallux, Short 5th metacarpal, Clinodactyly, Cone-shaped epiphyses of the phalanges o... |
OMIM:607004 |
| Brachydactyly, Type A4 |
|
Short middle phalanx of the 2nd finger, Aplasia of the middle phalanges of the toes, Short middle... |
OMIM:112800 |
| Brachydactyly Type A2 |
|
Short foot, Short middle phalanx of the 5th finger, Clinodactyly of the 5th finger, Type A2 brach... |
ORPHA:93396 |
| Thiemann Disease, Familial Form |
|
Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:3314 |
| Liebenberg Syndrome |
|
Abnormal carpal morphology, 2-3 finger syndactyly, Elbow flexion contracture, Radially deviated w... |
OMIM:186550 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Reduced proximal interphalangeal joint space, Abnormal palmar dermatoglyphics, Finger syndactyly,... |
ORPHA:3246 |
| Ectrodactyly-Polydactyly Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ab... |
ORPHA:1892 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Abnormal metacarpal morphology, Type A brachydactyly, Abnormal thumb morphology |
ORPHA:1078 |
| Brachydactyly, Type A2, With Microcephaly |
|
Absent middle phalanx of 2nd finger, Type A2 brachydactyly, Clinodactyly of the 2nd toe, Thumbs h... |
OMIM:211369 |
| Brachydactyly-Syndactyly Syndrome |
|
Short phalanx of finger, Finger syndactyly, Short digit, Camptodactyly, Oligodactyly, Syndactyly,... |
OMIM:610713 |
| Heart-Hand Syndrome, Spanish Type |
|
Short middle phalanx of finger, Ulnar deviation of the 2nd finger, Brachydactyly |
OMIM:140450 |
| Banki Syndrome |
|
Synostosis of carpal bones, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Brach... |
ORPHA:1228 |
| Syndactyly, Type V |
|
Camptodactyly of finger, Joint contracture of the hand, Cutaneous finger syndactyly, Carpal synos... |
OMIM:186300 |
| Gombo Syndrome |
|
Clinodactyly, Radial deviation of finger, Brachydactyly |
OMIM:233270 |
| Coloboma Of Macula With Type B Brachydactyly |
|
Broad distal phalanx of the thumb, Bifid distal phalanx of the thumb, Absent distal phalanges, Ty... |
OMIM:120400 |
| Arthrogryposis, Distal, Type 2B2 |
|
Short toe, Tapered finger, Ulnar deviation of the wrist, Clinodactyly, Camptodactyly, Hip disloca... |
OMIM:618435 |
| Cooks Syndrome |
|
Triphalangeal thumb, Dystrophic toenail, Broad thumb, Split hand, Brachydactyly, Dystrophic finge... |
ORPHA:1487 |
| Exostoses With Anetodermia And Brachydactyly, Type E |
|
Type E brachydactyly |
OMIM:133690 |
| Brachydactyly Type B2 |
|
Short toe, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Synostosis of ca... |
ORPHA:140908 |
| Brachydactyly Type C |
|
Metatarsus valgus, Symphalangism affecting the phalanges of the hand, Complete duplication of dis... |
ORPHA:93384 |
| Multiple Synostoses Syndrome |
|
Symphalangism affecting the phalanges of the hand, Bilateral single transverse palmar creases, Br... |
ORPHA:3237 |
| Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Camptodactyly of finger, Short distal phalanx of finger, Broad thumb, Type B brachydactyly |
ORPHA:1471 |
| Brachydactyly Type B |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Short metacarpal, Synostosi... |
ORPHA:93383 |
| Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Clinodactyly, Aplasia of the middle phalanx of the hand, Brachydactyly |
OMIM:610140 |
| Tarsal-Carpal Coalition Syndrome |
|
Proximal symphalangism of hands, Progressive fusion 2nd-5th pip joints, Short 1st metacarpal, Hum... |
OMIM:186570 |
| Santos Syndrome |
|
Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre... |
OMIM:613005 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Absent dorsal skin creases over affected joints, Triangular shaped phalanges of the hand, Brachyd... |
OMIM:618167 |
| Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Postaxial hand polydactyly, Short foot, Broad palm |
OMIM:611263 |
| Symphalangism, Distal |
|
Absent dorsal skin creases over affected joints, Distal symphalangism of hands, Distal foot symph... |
OMIM:185700 |
| Hirschsprung Disease With Type D Brachydactyly |
|
Short thumb, Type D brachydactyly |
OMIM:306980 |
| Brachydactyly-Arterial Hypertension Syndrome |
|
Short phalanx of finger, Short metacarpal, Brachydactyly |
ORPHA:1276 |
| Epiphyseal Dysplasia, Multiple, 4 |
|
Short metacarpal, Hip dysplasia, Flat capital femoral epiphysis, Brachydactyly, Epiphyseal dyspla... |
OMIM:226900 |
| Hypertension And Brachydactyly Syndrome |
|
Short phalanx of finger, Type E brachydactyly, Cone-shaped epiphysis, Short metacarpal |
OMIM:112410 |
| Brachydactyly, Type A2 |
|
2-3 toe syndactyly, Triangular shaped middle phalanx of the 2nd finger, Hallux valgus, Short midd... |
OMIM:112600 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Abnormality of the humerus, Synostosis of carpal bones, Clinodactyly of the 5th finger, Abnormal ... |
ORPHA:1275 |
| Chromosome 15Q13.3 Deletion Syndrome |
|
Synophrys, Clinodactyly of the 5th finger, Brachydactyly |
OMIM:612001 |
| Emery-Nelson Syndrome |
|
Camptodactyly of finger, Interphalangeal thumb joint contracture, Abnormal thumb morphology, Brac... |
ORPHA:1927 |
| Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Type E brachydactyly |
ORPHA:1962 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Short 5th finger, Short foot, Brachydactyly, Postaxial oligodac... |
ORPHA:52056 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Short toe, Short 5th metacarpal, Short finger, Clinodactyly of the 5th finger, Brachydactyly |
OMIM:604381 |
| 2q37 monosomy |
|
Brachydactyly |
DECIPHER:44 |
| Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome |
|
Short thumb, Brachydactyly |
ORPHA:435804 |
| Peripheral Dysostosis |
|
Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand, Brachydactyly |
ORPHA:1795 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Metaphyseal irregularity, Osteoporotic tarsals, Sclerotic humeral metaphysis, Coxa valga, Metaphy... |
OMIM:609052 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Brachydactyly, Fibular apl... |
OMIM:113310 |
| Feingold Syndrome Type 2 |
|
Toe syndactyly, Short thumb, Short middle phalanx of finger, Brachydactyly |
ORPHA:391646 |
| Proximal Symphalangism |
|
Camptodactyly of finger, Metacarpophalangeal synostosis, Finger syndactyly, Elbow ankylosis, Syno... |
ORPHA:3250 |
| Tetrasomy X |
|
Hip dysplasia, Radioulnar synostosis, Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:9 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
| Smith-Magenis syndrome |
|
Brachydactyly |
DECIPHER:8 |
| Osebold-Remondini Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Decreased finger mobil... |
OMIM:112910 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Coxa vara, Short metacarpal, Brachydactyly, Short metatarsal, Deformed humeral heads, Short humerus |
OMIM:601438 |
| Chromosome 20Q11-Q12 Deletion Syndrome |
|
Camptodactyly, Adducted thumb, Tarsal osteovalgus, Brachydactyly, Finger clinodactyly |
OMIM:614257 |
| Deafness, Congenital, With Onychodystrophy, Autosomal Dominant |
|
Triphalangeal thumb, Toe syndactyly, Absent middle phalanx of 5th finger, Bilateral triphalangeal... |
OMIM:124480 |
| Hirschsprung Disease-Type D Brachydactyly Syndrome |
|
Short phalanx of hallux, Short distal phalanx of the thumb, Brachydactyly |
ORPHA:2150 |
| Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Radial club hand, Preaxial hand polydactyly, Short metacarpal, Synophrys, Broad thumb, Brachydact... |
ORPHA:1278 |
| Camptobrachydactyly |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Ulna... |
ORPHA:1319 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Synostosis of carpal bones, Abnormal morphology of the radius, ... |
ORPHA:2639 |
| Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly |
OMIM:619248 |
| Weyers Acrofacial Dysostosis |
|
Clinodactyly of the 5th finger, Postaxial foot polydactyly, Brachydactyly, Postaxial hand polydac... |
OMIM:193530 |
| Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Short 4th metacarpal, Short 5th metacarpal, Abnormality of the e... |
ORPHA:1350 |
| Brachydactyly Type E |
|
Short metacarpal, Upper limb asymmetry, Aplasia/Hypoplasia of the distal phalanx of the hallux, S... |
ORPHA:93387 |
| Multiple Metaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the thumb, Abnormal metaphysis morphology, Abnormality of tibia morphology,... |
ORPHA:93430 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Genu varum, Genu valgum, Avascular necrosis of the capital femoral epiphysis, Finger joint hyperm... |
ORPHA:93308 |
| Bardet-Biedl Syndrome 18 |
|
Brachydactyly |
OMIM:615995 |
| Camptobrachydactyly |
|
Short toe, Congenital finger flexion contractures, Hand polydactyly, Syndactyly, Brachydactyly |
OMIM:114150 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short toe, Bifid distal phalanx of the thumb, Curved distal phalanx of the thumb, Triangular shap... |
ORPHA:370010 |
| Brachydactyly-Nystagmus-Cerebellar Ataxia |
|
Short metatarsal, Short metacarpal, Brachydactyly |
OMIM:113400 |
| Acromesomelic Dysplasia, Grebe Type |
|
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... |
ORPHA:2098 |
| 20Q11.2 Microdeletion Syndrome |
|
Adducted thumb, Finger clinodactyly, Camptodactyly, Brachydactyly |
ORPHA:444051 |
| Eng-Strom Syndrome |
|
Camptodactyly of finger, Brachydactyly |
ORPHA:1937 |
| Non-Syndromic Bicoronal Craniosynostosis |
|
Metacarpal synostosis, Brachydactyly |
ORPHA:35099 |
| Trichothiodystrophy 9, Nonphotosensitive |
|
Sparse eyebrow, Tiger tail banding, Brachydactyly, Sparse hair, Nail dystrophy |
OMIM:619692 |
| Brachydactyly, Type E2 |
|
Short metatarsal, Short metacarpal, Brachydactyly |
OMIM:613382 |
| Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... |
OMIM:607778 |
| Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Syndactyly, Split foot, Short finger, Hypoplasia of the ulna |
OMIM:314360 |
| Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Short metatarsal, Short 4th metacarpal, Type E brachydactyly |
OMIM:113301 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Postaxial foot polydactyly, Acetabular spurs, Brachydactyly, Postaxial hand polydactyly, Trident ... |
OMIM:617405 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Prominent interdigital folds, Short first metatarsal, Short 1st metacarpal, Short distal phalanx ... |
OMIM:601957 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Short distal phalanx of finger, Brachydactyly |
ORPHA:2787 |
| Metaphyseal Acroscyphodysplasia |
|
Short toe, Genu varum, Coxa valga, Cone-shaped metacarpal epiphyses, Abnormal diaphysis morpholog... |
ORPHA:1240 |
| Pseudoachondroplasia |
|
Short phalanx of finger, Irregular carpal bones, Irregular acetabular roof, Limited elbow extensi... |
ORPHA:750 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Cuboidal metacarpal, Hip dislocation, Abnormal pelvic girdle bone morphology, E... |
ORPHA:968 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... |
ORPHA:3329 |
| Orofaciodigital Syndrome Xviii |
|
Genu valgum, Single transverse palmar crease, Preaxial polydactyly, Sandal gap, Brachydactyly, Sh... |
OMIM:617927 |
| Acromicric Dysplasia |
|
Abnormal eyebrow morphology, Fifth metacarpal with ulnar notch, Short metacarpal, Small hand, Lon... |
ORPHA:969 |
| Multiple Synostoses Syndrome 2 |
|
Humeroradial synostosis, Finger symphalangism, Carpal synostosis, Brachydactyly, Tarsal synostosi... |
OMIM:610017 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Hip dysplasia, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Abnormal pelvic gi... |
ORPHA:2370 |
| Mal De Meleda |
|
Congenital symmetrical palmoplantar keratosis, Brachydactyly |
OMIM:248300 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Finger symphalangi... |
OMIM:612576 |
| Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal shoulder morphology, Brachydactyly |
ORPHA:1277 |
| Hypochondroplasia |
|
Short toe, Genu varum, Abnormality of the elbow, Abnormal pelvic girdle bone morphology, Brachyda... |
ORPHA:429 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Short digit, Abnormal hand morphology, Clinodactyly of the 5th finger, Short 5th metacarpal |
ORPHA:228190 |
| Tetralogy Of Fallot |
|
Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:3303 |
| Brachydactyly, Type E1 |
|
Short metacarpal, Brachydactyly, Short clavicles, Short metatarsal, Type E brachydactyly |
OMIM:113300 |
| Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures |
|
High anterior hairline, Sparse lateral eyebrow, Brachydactyly |
OMIM:618879 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Short 5th metacarpal, Uncombable hair, Abnormality of the hand, Brachydactyly, Sparse hair |
ORPHA:1264 |
| Hypochondroplasia |
|
Genu varum, Short femoral neck, Short long bone, Brachydactyly, Flared metaphysis, Trident hand, ... |
OMIM:146000 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Bowing of the legs, Hirsutism, Lower limb undergrowth, Brachydactyly |
OMIM:612847 |
| Acromesomelic Dysplasia 2B |
|
Short phalanx of finger, Deviation of finger, Malaligned carpal bone, Short metacarpal, Fibular a... |
OMIM:228900 |
| Craniosynostosis 3 |
|
Single transverse palmar crease, Hallux valgus, Low anterior hairline, Brachydactyly |
OMIM:615314 |
| Sillence Syndrome |
|
Bulbous tips of toes, Large iliac wing, Large tarsal bones, Flat acetabular roof, Camptodactyly, ... |
ORPHA:3168 |
| Léri-Weill Dyschondrosteosis |
|
Short tibia, Abnormal carpal morphology, Elbow dislocation, Madelung deformity, Abnormal metaphys... |
ORPHA:240 |
| Keipert Syndrome |
|
Clinodactyly, Camptodactyly, Broad hallux, Broad thumb, Brachydactyly, Broad distal phalanx of fi... |
OMIM:301026 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Hypoplastic iliac wing, Hypoplastic pubic bone, Short foot, Enlarged metacarpal epiphyses, Short ... |
OMIM:609616 |
| Charlie M Syndrome |
|
Triphalangeal thumb, Finger syndactyly, Abnormal metacarpal morphology, Split hand, Brachydactyly |
ORPHA:1406 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Hip dysplasia, Abnormal hip joint morphology, Irregular epiphyses, Hypopl... |
ORPHA:1856 |
| Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... |
ORPHA:79414 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Clinodactyly, Brachydactyly |
OMIM:610023 |
| Acrodysplasia Scoliosis |
|
Brachydactyly |
ORPHA:2956 |
| Summitt Syndrome |
|
Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Finger syndactyly, Clinodactyly of th... |
ORPHA:3210 |
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Short phalanx of finger, Genu valgum, Coxa valga, Epiphyseal dysplasia, Brachydactyly |
OMIM:132450 |
| Muenke Syndrome |
|
Short middle phalanx of toe, Capitate-hamate fusion, Thimble-shaped middle phalanges of hand, Cli... |
OMIM:602849 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Genu valgum, Reduced proximal interphalangeal joint space, Coxa vara, Short femoral neck, Flatten... |
ORPHA:166011 |
| Multiple Synostoses Syndrome 4 |
|
Overlapping toe, Tarsal synostosis, Brachydactyly |
OMIM:617898 |
| Metaphyseal Acroscyphodysplasia |
|
Short phalanx of finger, Short toe, Genu varum, Metaphyseal cupping, Coxa valga, Short metacarpal... |
OMIM:250215 |
| Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 2nd finger, Flat capital femoral epiphysis, Shortening of all middle ... |
OMIM:271700 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Delayed ossification of carpal bones, Short femoral neck, Brachydactyly |
OMIM:618392 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615982 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed epiphyseal ossification, Cone-shaped epiphysis, Small hand, Brachydactyly |
OMIM:618618 |
| Heart-Hand Syndrome, Slovenian Type |
|
Brachydactyly |
ORPHA:168796 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Short phalanx of finger, Sparse lateral eyebrow, Avascular necrosis of the capital femoral epiphy... |
OMIM:190351 |
| Carpenter Syndrome |
|
Polydactyly, Genu valgum, Finger syndactyly, Toe syndactyly, Preaxial foot polydactyly, Syndactyl... |
ORPHA:65759 |
| Metatropic Dysplasia |
|
Hyperplasia of the femoral trochanters, Metaphyseal irregularity, Genu valgum, Flared iliac wing,... |
OMIM:156530 |
| Brachydactyly, Type B1 |
|
Joint contracture of the hand, Short long bone, Cutaneous finger syndactyly, Camptodactyly, Synda... |
OMIM:113000 |
| Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Short phalanx of finger, Short toe, Short femo... |
OMIM:609441 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Genu valgum, Fixed elbow flexion, Fragmented epiphyses, Dislocated radial head, Epiphyseal dyspla... |
ORPHA:166016 |
| Anauxetic Dysplasia 2 |
|
Coxa valga, Coxa vara, Short femoral neck, Hypoplastic iliac body, Hypoplasia of the femoral head... |
OMIM:617396 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short toe, Genu valgum, Capitate-hamate fusion, Short metacarpal, Short long bone, Hip dysplasia,... |
OMIM:614078 |
| Cornelia De Lange Syndrome 2 |
|
Limited elbow movement, Small hand, Synophrys, Clinodactyly, Long eyelashes, Thick eyebrow, Hirsu... |
OMIM:300590 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Ectopic anus, Spina bifida, Anencephaly, Gastroschisis, Hypoplastic le... |
ORPHA:2476 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Short metacarpal, Synophrys, Clinodactyly, Radioulnar synostosis, Carpal synostosis, Syndactyly, ... |
OMIM:605282 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Elbow flexion contracture, Metatarsal synostosis, Abnormal forearm bone morphology, Flattened epi... |
ORPHA:93307 |
| Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome |
|
Brachytelomesophalangy, Short distal phalanx of finger |
ORPHA:1547 |
| Pseudoachondroplasia |
|
Short phalanx of finger, Irregular carpal bones, Limited elbow extension, Delayed epiphyseal ossi... |
OMIM:177170 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Short toe, Protrusio acetabuli, Brachytelomesophalangy, Abnormality of the wrist, Osteoarthritis ... |
ORPHA:2619 |
| Leri Pleonosteosis |
|
Camptodactyly of finger, Abnormal finger morphology, Abnormal metacarpal morphology, Elbow disloc... |
ORPHA:2900 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Brachydactyly, Ulnar deviation of finger, Abnormal pelvic girdle bone mo... |
ORPHA:2928 |
| Jeune Syndrome |
|
Toe syndactyly, Abnormal pelvic girdle bone morphology, Postaxial foot polydactyly, Brachydactyly... |
ORPHA:474 |
| Acromesomelic Dysplasia 2A |
|
Short tibia, Short phalanx of finger, Aplasia/Hypoplasia involving the metacarpal bones, Hypoplas... |
OMIM:200700 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Hypoplastic iliac wing, Hip dysplasia, Short distal phalanx of finger, Brachydactyly |
ORPHA:1858 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Genu valgum, Coxa vara, Short metacarpal, Brachydactyly, Deviation of finger, Deformed humeral he... |
ORPHA:2831 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Short metacarpal, Hypoplastic inferior ... |
OMIM:608940 |
| Rhizomelic Syndrome, Urbach Type |
|
Triphalangeal thumb, Preaxial hand polydactyly, Abnormality of the elbow, Abnormality of the hume... |
ORPHA:3098 |
| Phenobarbital Embryopathy |
|
Aplasia/Hypoplasia of fingers, Brachydactyly |
ORPHA:1919 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Short phalanx of finger, Small hand, Widow's peak, Clinodactyly, Broad finger, Brachydactyly, Thi... |
OMIM:614684 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Alopecia, Clinodactyly, Camptodactyly, Osteolysis involving bones of the upper limbs, Syndactyly,... |
ORPHA:88630 |
| Desbuquois Dysplasia 1 |
|
Broad first metatarsal, Advanced ossification of carpal bones, Coxa valga, Proximal fibular overg... |
OMIM:251450 |
| Terminal Osseous Dysplasia |
|
Camptodactyly of finger, Short toe, Clinodactyly, Camptodactyly of toe, Syndactyly, Toe clinodact... |
OMIM:300244 |
| Nicolaides-Baraitser Syndrome |
|
Alopecia, Abnormal finger morphology, Abnormal metacarpal morphology, Clubbing of toes, Long eyel... |
ORPHA:3051 |
| Multiple Synostoses Syndrome 1 |
|
2-3 toe syndactyly, Dislocated radial head, Short hallux, Radial deviation of finger, Proximal/mi... |
OMIM:186500 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
High anterior hairline, Sparse scalp hair, Adducted thumb, Single transverse palmar crease, Brach... |
OMIM:620062 |
| Aminopterin Syndrome Sine Aminopterin |
|
Joint contracture of the hand, Frontal upsweep of hair, Clinodactyly, Brachydactyly, Syndactyly, ... |
OMIM:600325 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Short phalanx of finger, Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Broad ... |
OMIM:151200 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal symphalangism of hands, Clinodactyly of the 2nd finger, Short foot, Cutaneous finger syn... |
ORPHA:363417 |
| Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Broad hallux, Short thumb, Brachydactyly |
OMIM:165800 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Cone-shaped epiphysis, Abnormal finger morphology, Large iliac wing, Abnormal metacarpal morpholo... |
ORPHA:2511 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Brachydactyly, Polydactyly, Short long bone |
OMIM:613819 |
| Pseudopseudohypoparathyroidism |
|
Short 5th finger, Short 4th metacarpal, Short 5th metacarpal, Short distal phalanx of the thumb, ... |
ORPHA:79445 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Metaphyseal irregularity, Genu valgum, Hypoplastic pubic bone, Coxa vara, Clinodactyly, Metaphyse... |
OMIM:184250 |
| Satoyoshi Syndrome |
|
Osteolytic defects of the phalanges of the hand, Alopecia, Genu valgum, Short metacarpal, Alopeci... |
OMIM:600705 |
| Waardenburg Syndrome, Type 3 |
|
Camptodactyly of finger, Joint contracture of the hand, Cutaneous finger syndactyly, Premature gr... |
OMIM:148820 |
| Hand-Foot-Genital Syndrome |
|
Pseudoepiphyses, Short 5th finger, Short first metatarsal, Short 1st metacarpal, Delayed ossifica... |
OMIM:140000 |
| Craniofrontonasal Dysplasia |
|
Camptodactyly of finger, Finger syndactyly, Widow's peak, Hand polydactyly, Clinodactyly of the 5... |
ORPHA:1520 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Flared iliac wing, Absent epiphyses of the phalanges of the hand... |
ORPHA:93314 |
| Alopecia-Intellectual Disability Syndrome |
|
Sparse body hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Split hand, Bra... |
ORPHA:2850 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Small hand, Clinodactyly of the 5th finger, Thick eyebrow, Bilateral single transverse palmar cre... |
ORPHA:444002 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short phalanx of finger, Short metacarpal, Angel-shaped phalanx, Flat acetabular roof, Cone-shape... |
OMIM:617102 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Brachydactyly |
ORPHA:40 |
| Potocki-Shaffer Syndrome |
|
Brachydactyly, Single transverse palmar crease, Sparse lateral eyebrow, 2-5 finger cutaneous synd... |
OMIM:601224 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Short middle phalanx of finger, Brachydactyly |
ORPHA:1436 |
| Mesomelia-Synostoses Syndrome |
|
Genu valgum, Abnormal eyebrow morphology, Abnormality of the humerus, Synostosis of carpal bones,... |
ORPHA:2496 |
| Cranioectodermal Dysplasia |
|
Finger syndactyly, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Short distal ph... |
ORPHA:1515 |
| Dermatoosteolysis, Kirghizian Type |
|
Dystrophic toenail, Abnormality of the wrist, Abnormal diaphysis morphology, Abnormality of the h... |
ORPHA:1657 |
| Erythrokeratodermia Variabilis |
|
Alopecia, Tapered finger, Brachydactyly, Generalized hirsutism, Abnormal hair morphology, Patchy ... |
ORPHA:317 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal dysplasia, Metaphyseal irregularity, Genu valgum, Genu varum, Short foot, Coxa vara, ... |
OMIM:250420 |
| Thanatophoric Dysplasia, Type Ii |
|
Metaphyseal irregularity, Hypoplastic ilia, Flared metaphysis, Brachydactyly, Short greater sciat... |
OMIM:187601 |
| Anauxetic Dysplasia 3 |
|
Hip subluxation, High anterior hairline, Genu valgum, Metaphyseal cupping, Sparse scalp hair, Sho... |
OMIM:618853 |
| Chromosome 15Q26-Qter Deletion Syndrome |
|
Short middle phalanx of finger, Talipes equinovarus, Brachydactyly |
OMIM:612626 |
| Intellectual Developmental Disorder, Autosomal Dominant 59 |
|
Short palm, Highly arched eyebrow, Short foot, Brachydactyly |
OMIM:618522 |
| Non-Distal Monosomy 10Q |
|
Synophrys, Clinodactyly of the 5th finger, Bilateral single transverse palmar creases, Overlappin... |
ORPHA:1581 |
| Abruzzo-Erickson Syndrome |
|
Short toe, Toe syndactyly, Radioulnar synostosis, Ulnar deviation of finger, Brachydactyly |
ORPHA:921 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Genu varum, Hip dislocation, Clinodactyly of the 5th finger, Long eyelashes, Syndactyly, Brachyda... |
OMIM:619451 |
| Lowry-Wood Syndrome |
|
Coxa vara, Irregular epiphyses, Elbow dislocation, Dislocated radial head, Epiphyseal dysplasia, ... |
ORPHA:1824 |
| Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Clinodactyly of the 5th finger, Brachydactyly |
OMIM:244600 |
| Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Brachydactyly |
OMIM:617169 |
| Bardet-Biedl Syndrome 9 |
|
Polydactyly, Postaxial foot polydactyly, Syndactyly, Brachydactyly, Postaxial hand polydactyly, P... |
OMIM:615986 |
| Acrocephalopolydactyly |
|
Brachydactyly, Short long bone |
ORPHA:221054 |
| Odontochondrodysplasia 1 |
|
Short phalanx of finger, Genu varum, Metaphyseal cupping, Short metacarpal, Short long bone, Flar... |
OMIM:184260 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short phalanx of finger, Advanced ossification of carpal bones, Short metacarpal, Fair hair, Brac... |
OMIM:614613 |
| Microcephaly, Short Stature, And Limb Abnormalities |
|
Patellar hypoplasia, Patellar aplasia, Short metacarpal, Hypoplasia of the radius, Radioulnar syn... |
OMIM:617604 |
| Roifman Syndrome |
|
Short toe, Hip contracture, Short metacarpal, Short digit, Clinodactyly of the 5th finger, Promin... |
OMIM:616651 |
| Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Toe syndactyly, Clinodactyly of the 5th finger, Abnormal diaphysis morph... |
ORPHA:3409 |
| Frontonasal Dysplasia 1 |
|
Joint contracture of the hand, Pectoral muscle hypoplasia/aplasia, Clinodactyly, Camptodactyly, W... |
OMIM:136760 |
| Pelviscapular Dysplasia |
|
Hypoplastic ilia, Humeroradial synostosis, Elbow flexion contracture, Short femur, Congenital hip... |
ORPHA:93333 |
| Temtamy Syndrome |
|
Short toe, Genu varum, Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:1777 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Synophrys, Clinodactyly of the 5th finger, Down-sloping shoulders, Brachydactyly |
ORPHA:1390 |
| Moebius Syndrome |
|
Short phalanx of finger, Hand clenching, Aplasia/Hypoplasia involving the metacarpal bones, Clino... |
OMIM:157900 |
| Orofaciodigital Syndrome Iv |
|
Short tibia, Toe syndactyly, Foot polydactyly, Short finger, Hand polydactyly, Clinodactyly, Brac... |
OMIM:258860 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Clinodactyly of the 2nd finger, Coxa valga, Short foot, Wide pubic symphysis, Hip dysplasia, Clin... |
OMIM:620073 |
| Roifman Syndrome |
|
Short toe, Hip contracture, Delayed proximal femoral epiphyseal ossification, Clinodactyly of the... |
ORPHA:353298 |
| Bardet-Biedl Syndrome 3 |
|
Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
| Laurence-Moon Syndrome |
|
Brachydactyly, Hand polydactyly, Finger syndactyly, Bilateral single transverse palmar creases |
ORPHA:2377 |
| Holt-Oram Syndrome |
|
Triphalangeal thumb, Absent thumb, Abnormal carpal morphology, Hypoplasia of the radius, Aplasia ... |
OMIM:142900 |
| Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Curly hair, Multiple rows of eyelashes, Short long bone, Abnormal metatarsal morphology, Facial h... |
ORPHA:163654 |
| Ruvalcaba Syndrome |
|
Cone-shaped epiphysis, Abnormality of the elbow, Short metacarpal, Small hand, Synostosis of carp... |
ORPHA:3121 |
| Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle |
OMIM:173800 |
| Pseudohypoparathyroidism, Type Ib |
|
Short metacarpal, Brachydactyly |
OMIM:603233 |
| Oculomaxillofacial Dysostosis |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the eyebrow, Abnormality of the humerus, Adducted ... |
ORPHA:1794 |
| Pfeiffer Syndrome |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Hip dysplasia, Synostosis o... |
ORPHA:710 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short phalanx of finger, Short toe, Hypoplastic iliac wing, Short foot, Short metacarpal, Short l... |
OMIM:611717 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Brachydactyly, Postaxial polydactyly, Short long bone |
OMIM:615633 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Camptodactyly of finger, Short toe, Hallux valgus, Toe syndactyly, Synophrys, Short distal phalan... |
ORPHA:1327 |
| Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome |
|
Arachnodactyly, Sparse scalp hair, Brachydactyly, Palmoplantar keratoderma, Cone-shaped epiphysis |
ORPHA:2824 |
| Lowry-Wood Syndrome |
|
Elbow flexion contracture, Hip dislocation, Irregular epiphyses, Clinodactyly of the 5th finger, ... |
OMIM:226960 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Hypoplastic iliac wing, Sparse scalp hair, Coxa vara, Short 1st metacarpal, Radial bowing, Ivory ... |
OMIM:210720 |
| Dyggve-Melchior-Clausen Disease |
|
Camptodactyly, Flat glenoid fossa, Narrow greater sciatic notch, Talipes equinovarus, Hypoplastic... |
OMIM:223800 |
| Marinesco-Sjögren Syndrome |
|
Metatarsus valgus, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnormal fing... |
ORPHA:559 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Short long bone, Coarse metaphyseal trabecularization, Brachydactyly, Metaphyseal widening, Squar... |
OMIM:618961 |
| Cardiospondylocarpofacial Syndrome |
|
Synostosis of carpal bones, Short palm, Brachydactyly |
ORPHA:3238 |
| Chst3-Related Skeletal Dysplasia |
|
Sparse eyebrow, Genu valgum, Abnormality of the elbow, Short metacarpal, Irregular epiphyses, Sma... |
ORPHA:263463 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
2-3 toe syndactyly, Short toe, Tapered finger, Hallux valgus, Short finger, Broad hallux, Brachyd... |
OMIM:618659 |
| Progressive Osseous Heteroplasia |
|
Brachydactyly |
ORPHA:2762 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Flattened femoral head, Narrow pelvis bone, Fibular metaphyseal irregularity, Overlapping toe, Di... |
ORPHA:457395 |
| Schaaf-Yang Syndrome |
|
Tapered finger, Small hand, Clinodactyly, Camptodactyly, Thick eyebrow, Narrow palm, Brachydactyl... |
OMIM:615547 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Widow's peak, Short foot, Brachydactyly |
OMIM:266265 |
| Anauxetic Dysplasia 1 |
|
Short toe, Hip contracture, Short foot, Hypoplastic ilia, Elbow flexion contracture, Short finger... |
OMIM:607095 |
| Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Horizontal eyebrow, Hip dysplasia, Synophrys, Clinodactyly of the 5th finger, Long eyelashes, Bra... |
OMIM:618381 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Short phalanx of finger, Coxa valga, Flared iliac wing, Narrow pelvis bone, Limited elbow extensi... |
OMIM:300106 |
| Weill-Marchesani Syndrome |
|
Short thumb, Brachydactyly |
ORPHA:3449 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Dumbbell-shaped long bone, Short femur, Femoral bowing, Brachydactyly, Hypoplastic scapulae, Meta... |
ORPHA:440354 |
| Diamond-Blackfan Anemia 21 |
|
Short toe, Genu valgum, Preaxial hand polydactyly, Tapered finger, Hallux valgus, Horizontal eyeb... |
OMIM:620072 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Peg-like central prominence of distal tibial metaphyses, Low anterior hairline, Coxa vara, Short ... |
OMIM:300232 |
| Pseudopseudohypoparathyroidism |
|
Short metatarsal, Short metacarpal, Brachydactyly |
OMIM:612463 |
| Eiken Syndrome |
|
Broad femoral neck, Pseudoepiphyses, Long hallux, Narrow pelvis bone, Flat acetabular roof, Clino... |
OMIM:600002 |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Genu valgum, Synophrys, Abnormal metacarpal morphology, Brachydactyly, Short distal phalanx of fi... |
ORPHA:1295 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal epiphysis morphology, Brachydactyly |
ORPHA:2643 |
| Carpenter Syndrome 1 |
|
Genu varum, Genu valgum, Aplasia/Hypoplasia of the middle phalanges of the toes, Coxa valga, Join... |
OMIM:201000 |
| Pde4D Haploinsufficiency Syndrome |
|
Short phalanx of finger, Short toe, Upper limb undergrowth, Short metacarpal, Broad phalanx, Broa... |
ORPHA:439822 |
| Atelosteogenesis Type Ii |
|
Short phalanx of finger, Genu valgum, Upper limb undergrowth, Ulnar deviation of the hand or of f... |
ORPHA:56304 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
2-3 toe syndactyly, Clinodactyly of the 5th finger, Single transverse palmar crease, Brachydactyl... |
OMIM:236500 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Synophrys, Dislocated radial head, Brachydactyly, Short thumb, Limited elbow extension and supina... |
ORPHA:401935 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Camptodactyly of finger, Long eyelashes, Brachydactyly |
ORPHA:2863 |
| Acrodysostosis |
|
Short toe, Short metacarpal, Hypoplasia of the radius, Epiphyseal stippling, Abnormal morphology ... |
ORPHA:950 |
| 20P13 Microdeletion Syndrome |
|
Polydactyly, Finger syndactyly, Synophrys, Clinodactyly, Brachydactyly, Highly arched eyebrow |
ORPHA:313781 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polydactyly, Aplasia/Hypoplasia of the eyebrow, Short long bone, Flat acetabular roof, Fine hair,... |
OMIM:614091 |
| Bardet-Biedl Syndrome 17 |
|
Polydactyly, Mesoaxial polydactyly, Postaxial foot polydactyly, Brachydactyly, Postaxial hand pol... |
OMIM:615994 |
| Kury-Isidor Syndrome |
|
Alopecia, Finger syndactyly, Hip dysplasia, Brachydactyly, Proximal placement of thumb, Rocker bo... |
OMIM:619762 |
| Spastic Paraplegia 20, Autosomal Recessive |
|
Clinodactyly, Camptodactyly, Hammertoe, Brachydactyly, Ulnar deviation of the hand, Short foot |
OMIM:275900 |
| Mohr Syndrome |
|
Metaphyseal irregularity, Preaxial hand polydactyly, Preaxial foot polydactyly, Partial duplicati... |
OMIM:252100 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Broad long bone diaphyses, Short iliac bones, Supernumerary nipple, Acetabular spurs, Brachydacty... |
OMIM:614376 |
| Coffin-Siris Syndrome 2 |
|
Sparse scalp hair, Long eyelashes, Hirsutism, Sandal gap, Brachydactyly, Short distal phalanx of ... |
OMIM:614607 |
| Weill-Marchesani Syndrome 3 |
|
Brachydactyly |
OMIM:614819 |
| Cono-Spondylar Dysplasia |
|
Short 4th toe, Short lower limbs, Short nail, Cone-shaped epiphyses of the phalanges of the hand,... |
ORPHA:420794 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Short phalanx of finger, Metaphyseal irregularity, Coxa vara, Short metacarpal, Hypoplastic ilia,... |
ORPHA:85167 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Abnormality of the elbow, Brachydactyly, Lo... |
ORPHA:2701 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cone-shaped epiphysis, Postaxial polydactyly, Short long bone, Absent tibia, Short digit, Hypopla... |
OMIM:613091 |
| Achondroplasia |
|
Short long bone, Flat acetabular roof, Short proximal phalanx of finger, Brachydactyly, Bowing of... |
ORPHA:15 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Split hand, Finger syndactyly, Brachydactyly |
ORPHA:2145 |
| Opsismodysplasia |
|
Tapered finger, Hypoplastic pubic bone, Hypoplastic ischia, Broad thumb, Brachydactyly, Abnormal ... |
ORPHA:2746 |
| 16P12.1P12.3 Triplication Syndrome |
|
2-3 toe syndactyly, Short 5th finger, Tapered finger, Hallux valgus, Clinodactyly of the 4th fing... |
ORPHA:485405 |
| Müllerian Aplasia And Hyperandrogenism |
|
High anterior hairline, Synophrys, Frontal balding, Hirsutism, Brachydactyly, Cubitus valgus, Fac... |
ORPHA:247768 |
| Larsen Syndrome |
|
Accessory carpal bones, Finger syndactyly, Short nail, Broad thumb, Brachydactyly, Short distal p... |
ORPHA:503 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Alopecia, Abnormality of the elbow, Finger syndactyly, Synostosis of carpal bones, Hip dislocatio... |
ORPHA:1005 |
| Adams-Oliver Syndrome 6 |
|
Syndactyly, Foot oligodactyly, Brachydactyly |
OMIM:616589 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Brachydactyly |
OMIM:610498 |
| Schneckenbecken Dysplasia |
|
Metaphyseal irregularity, Dumbbell-shaped long bone, Advanced ossification of carpal bones, Short... |
OMIM:269250 |
| Otospondylomegaepiphyseal Dysplasia |
|
Short phalanx of finger, Abnormal long bone morphology, Short metacarpal, Abnormal pelvis bone mo... |
ORPHA:1427 |
| Bent Bone Dysplasia Syndrome 1 |
|
Hypoplastic pubic bone, Hirsutism, Brachydactyly, Short clavicles, Bent long bone |
OMIM:614592 |
| Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Clinodactyly, Camptodactyly, Brachydactyly, Hypertrichosis, Talipes equinovarus |
OMIM:616354 |
| 15Q24 Microdeletion Syndrome |
|
High anterior hairline, Small hand, Broad eyebrow, Clinodactyly, Abnormal thumb morphology, Abnor... |
ORPHA:94065 |
| Suleiman-El-Hattab Syndrome |
|
Polydactyly, Synophrys, Clinodactyly, Frontal hirsutism, Single transverse palmar crease, Hirsuti... |
OMIM:618950 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Single transverse palmar crease, Clinodactyly, Camptodactyly, Brachydactyly |
OMIM:613604 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short phalanx of finger, Aplasia/hypoplasia of the femur, Toe syndactyly, Flared iliac wing, Hip ... |
OMIM:609945 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
2-3 toe syndactyly, Genu valgum, Clinodactyly of the 2nd finger, Monkey wrench femoral neck, Fing... |
OMIM:618870 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Short finger, Irregular epiphyses, Broad thumb, Brachydactyly, Metaphyseal widening |
OMIM:612813 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short phalanx of finger, Short toe, Metaphyseal irregularity, Iliac crest serration, Metaphyseal ... |
OMIM:250220 |
| Hall-Riggs Syndrome |
|
Thick hair, Brachydactyly, Coarse hair, Abnormal metaphysis morphology, Abnormal epiphysis morpho... |
ORPHA:2107 |
| Acrofrontofacionasal Dysostosis |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the eyebrow, Broad thumb, Brachydactyly, Short dis... |
ORPHA:1784 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Short toe, Brachydactyly |
ORPHA:3085 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Short long bone, Femoral bowing, Syndactyly, Preaxial polydactyly, Acetabular spurs, Brachydactyl... |
OMIM:615503 |
| 2Q37 Microdeletion Syndrome |
|
Sparse eyebrow, Sparse scalp hair, Short foot, Short metacarpal, Finger syndactyly, Toe syndactyl... |
ORPHA:1001 |
| Hall-Riggs Mental Retardation Syndrome |
|
Metaphyseal dysplasia, Brachydactyly |
OMIM:234250 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
2-3 toe syndactyly, Tapered finger, Frontal upsweep of hair, Synophrys, Clinodactyly of the 5th f... |
OMIM:617061 |
| Cardioacrofacial Dysplasia 2 |
|
Genu valgum, Clinodactyly of the 5th finger, Postaxial foot polydactyly, Clubbing, Brachydactyly,... |
OMIM:619143 |
| Greenberg Dysplasia |
|
Abnormal pelvis bone ossification, Brachydactyly |
ORPHA:1426 |
| Frank-Ter Haar Syndrome |
|
Camptodactyly of finger, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Brachyda... |
ORPHA:137834 |
| 2Q31.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Tapered finger, Short foot, Finger syndactyly, Toe syndactyly, Synophrys... |
ORPHA:251014 |
| Laron Syndrome |
|
Short toe, Abnormality of the elbow, Brachydactyly |
ORPHA:633 |
| Acrofacial Dysostosis, Catania Type |
|
Finger syndactyly, Small hand, Coarse hair, Clinodactyly of the 5th finger, Brachydactyly, Abnorm... |
ORPHA:1786 |
| Aarskog-Scott Syndrome |
|
Short 5th finger, Short foot, Hyperextensibility of the finger joints, Widow's peak, Clinodactyly... |
OMIM:305400 |
| Al-Raqad Syndrome |
|
Sandal gap, Brachydactyly |
OMIM:616459 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Exencephaly, Encephalocele |
ORPHA:2211 |
| Microcephaly-Capillary Malformation Syndrome |
|
Short distal phalanx of finger, Clinodactyly, Abnormal hair whorl, Brachydactyly |
OMIM:614261 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Sparse eyebrow, Sparse scalp hair, Short digit, Syndactyly, Proximal placement of thumb, Brachyda... |
OMIM:615789 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Genu valgum, Short long bone, Cone-shaped epiphyses of the phalanges of the hand, Brachydactyly, ... |
OMIM:615630 |
| Specific Granule Deficiency 2 |
|
Hirsutism, Sandal gap, Brachydactyly |
OMIM:617475 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
2-3 toe syndactyly, Radial bowing, Ulnar bowing, Hypoplastic ischia, Single transverse palmar cre... |
OMIM:617866 |
| Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Hip dysplasia, Clubbing of toes, Clinodactyly of the 5th finger, Abnormal dist... |
ORPHA:783 |
| Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Ulnar deviation of the hand or of fingers of the hand, Hypoplasia of the radius, Slender long bon... |
OMIM:602613 |
| Vitamin K Antagonist Embryofetopathy |
|
Short distal phalanx of finger, Epiphyseal stippling, Brachydactyly |
ORPHA:1914 |
| Cleidocranial Dysplasia |
|
Dystrophic fingernails, Dystrophic toenail, Genu valgum, Tapered finger, Coxa vara, Hypoplastic i... |
ORPHA:1452 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
2-3 toe syndactyly, Synophrys, Clinodactyly of the 5th finger, Brachydactyly, Talipes equinovarus |
ORPHA:3306 |
| Trichorhinophalangeal Syndrome Type 2 |
|
Genu valgum, Sparse scalp hair, Avascular necrosis of the capital femoral epiphysis, Hip dysplasi... |
ORPHA:502 |
| Lujan-Fryns Syndrome |
|
Camptodactyly of finger, Brachydactyly, Arachnodactyly |
ORPHA:776 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Hypoplastic ilia, Hypoplasia of the radius, Syndactyly, Brachydactyly, Postaxial polydactyly |
OMIM:617895 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Clinodactyly, Camptodactyly, Long eyelashes, Broad hallux, Broad thumb, Sandal gap, Brachydactyly... |
OMIM:618529 |
| Thanatophoric Dysplasia Type 1 |
|
Hypoplastic ilia, Short femur, Femoral bowing, Abnormal sacroiliac joint morphology, Split hand, ... |
ORPHA:1860 |
| Thanatophoric Dysplasia |
|
Hip dysplasia, Abnormal sacroiliac joint morphology, Abnormal ilium morphology, Brachydactyly, Ab... |
ORPHA:2655 |
| Lymphedema-Hypoparathyroidism Syndrome |
|
Increased carrying angle, Hypertrichosis, Brachydactyly |
OMIM:247410 |
| Fountain Syndrome |
|
Large hands, Synophrys, Abnormal metacarpal morphology, Coarse metaphyseal trabecularization, Thi... |
ORPHA:3219 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Bilateral single transverse palmar creases, Broad thumb, Abnormal hair pattern, Brachydactyly, La... |
ORPHA:1770 |
| Temtamy Syndrome |
|
Hip dislocation, Short 2nd toe, Brachydactyly, Highly arched eyebrow, Talipes equinovarus |
OMIM:218340 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Short foot, Sandal gap, Small hand, Brachydactyly |
OMIM:300354 |
| Feingold Syndrome |
|
Hallux valgus, Toe syndactyly, Clinodactyly of the 5th finger, Deviation of the 2nd finger, Brach... |
ORPHA:1305 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
2-3 toe syndactyly, Sandal gap, Joint contracture of the 5th finger, Brachydactyly, Joint contrac... |
OMIM:618914 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Metaphyseal irregularity, Dumbbell-shaped long bone, Metaphyseal cupping, Hypoplastic pubic bone,... |
OMIM:151210 |
| Adams-Oliver Syndrome |
|
Alopecia, Abnormality of the upper limb, Finger syndactyly, Abnormal metacarpal morphology, Split... |
ORPHA:974 |
| Jansen-De Vries Syndrome |
|
Short foot, Small hand, Brachydactyly |
OMIM:617450 |
| Alg6-Cdg |
|
Shortening of all distal phalanges of the fingers, Brachydactyly |
ORPHA:79320 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Fine hair, Broad hallux, Syndactyly, Single transverse palmar crease, Sandal gap, Brachydactyly, ... |
OMIM:614800 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Camptodactyly of finger, Bilateral single transverse palmar creases, Abnormal hair pattern, Brach... |
ORPHA:2083 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Coxa valga, Narrow greater sciatic notch, Delayed ossification of carpal bones, Dislocated radial... |
OMIM:617425 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Broad thumb, Patchy alopecia, Brachydactyly, Sparse hair, Broad distal phalanx of finger |
OMIM:617763 |
| Tonne-Kalscheuer Syndrome |
|
Broad thumb, Fine hair, Brachydactyly |
OMIM:300978 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Short distal phalanx of finger, Generalized hirsutism, Brachydactyly |
ORPHA:1563 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Short femoral neck, Short metacarpal, Small hand, Clinodactyly, Breast hypoplasia, Hypoplastic pe... |
OMIM:614813 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
2-3 toe syndactyly, Short femoral neck, Coxa vara, Synophrys, Radioulnar synostosis, Clinodactyly... |
OMIM:614701 |
| Stuve-Wiedemann Syndrome 1 |
|
Short tibia, Short phalanx of finger, Metaphyseal rarefaction, Elbow flexion contracture, Camptod... |
OMIM:601559 |
| Short Rib-Polydactyly Syndrome |
|
Short tibia, Polydactyly, Disproportionate shortening of the tibia, Cone-shaped epiphysis, Abnorm... |
ORPHA:1505 |
| Achondroplasia |
|
Genu varum, Short femoral neck, Radial bowing, Ulnar bowing, Short femur, Bowing of the legs, Fem... |
OMIM:100800 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Genu valgum, Metaphyseal irregularity, Short 4th metacarpal, Short femoral neck, Metaphyseal cupp... |
OMIM:618019 |
| Codas Syndrome |
|
Short metacarpal, Abnormal pelvic girdle bone morphology, Congenital hip dislocation, Brachydacty... |
ORPHA:1458 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Abnormal metacarpal morphology, Brachydactyly |
ORPHA:93262 |
| Oculodentodigital Dysplasia |
|
Camptodactyly of finger, Preaxial hand polydactyly, Curly hair, Finger syndactyly, Brittle hair, ... |
ORPHA:2710 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Short phalanx of finger, Short metatarsal, Short foot, Short metacarpal, Small hand, Toe syndacty... |
OMIM:170390 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Aplasia/Hypoplasia involving the metacarpal b... |
ORPHA:570 |
| Atelosteogenesis, Type I |
|
Short metacarpal, Multinucleated giant chondrocytes in epiphyseal cartilage, Radial bowing, Tibia... |
OMIM:108720 |
| Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Symphalangism affecting the phalanges of the hand, High anterior hairline, Clinodactyly of the 5t... |
ORPHA:1292 |
| Coffin-Siris Syndrome 6 |
|
Clinodactyly, Brachydactyly |
OMIM:617808 |
| Pseudohypoparathyroidism, Type Ia |
|
Short toe, Short metacarpal, Short finger, Brachydactyly, Short metatarsal |
OMIM:103580 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Short distal phalanx of finger, Coxa valga, Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:2163 |
| Smith-Magenis Syndrome |
|
Synophrys, Abnormal forearm morphology, Brachydactyly, Short palm, Broad palm |
OMIM:182290 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Short 5th finger, Limited elbow movement, Small hand, Toe syndactyly, Synophrys, Clinodactyly of ... |
OMIM:610759 |
| Craniorachischisis |
|
Spinal dysraphism, Myelomeningocele, Anencephaly, Anal atresia, Sirenomelia, Cervical spina bifid... |
ORPHA:63260 |
| Roberts Syndrome |
|
Wrist flexion contracture, Aplasia/Hypoplasia of the thumb, Abnormality of the upper limb, Comple... |
ORPHA:3103 |
| Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Anencephaly, Hydrocephalus, Ectopia cordis, Cleft palate, Omphalocele, ... |
OMIM:313850 |
| Chitayat Syndrome |
|
Hallux valgus, Brachydactyly |
OMIM:617180 |
| Aredyld Syndrome |
|
Brachydactyly, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Abnormal pelvic girdle bone m... |
ORPHA:1133 |
| Corneodermatoosseous Syndrome |
|
Abnormal finger morphology, Abnormal metacarpal morphology, Abnormality of the hand, Brachydactyl... |
ORPHA:3194 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
High anterior hairline, Sparse eyebrow, Short metacarpal, Metaphyseal chondrodysplasia, Brachydac... |
OMIM:250410 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Short fourth metatarsal, Patellar hypoplasia, Brachydactyly |
ORPHA:464288 |
| Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Brachydactyly |
ORPHA:436245 |
| Orofaciodigital Syndrome Vi |
|
Preaxial hand polydactyly, Toe syndactyly, Preaxial foot polydactyly, Central Y-shaped metacarpal... |
OMIM:277170 |
| Coffin-Siris Syndrome 7 |
|
Thick eyebrow, Clinodactyly of the 5th finger, Sparse scalp hair, Brachydactyly |
OMIM:618027 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Clinodactyly, Scarring alopecia of scalp, Broad hallux, Sandal gap, Brachydactyly, 3-4 toe syndac... |
OMIM:618727 |
| Cranioectodermal Dysplasia 3 |
|
2-3 toe syndactyly, Short nail, Fine hair, Sandal gap, Brachydactyly, 2-4 toe syndactyly, Sparse ... |
OMIM:614099 |
| Distal Monosomy 10Q |
|
Tapered finger, Hip dysplasia, Widow's peak, Clinodactyly, Hip dislocation, Clinodactyly of the 5... |
ORPHA:96148 |
| Gorlin Syndrome |
|
Palmar pits, Brachydactyly, Arachnodactyly |
ORPHA:377 |
| Radio-Tartaglia Syndrome |
|
High anterior hairline, Tapered finger, Synophrys, Long eyebrows, Long eyelashes, Hirsutism, Brac... |
OMIM:619312 |
| Rhyns Syndrome |
|
Brachydactyly, Radial bowing, Short femoral neck, Short long bone |
OMIM:602152 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Brachydactyly |
ORPHA:2180 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Short phalanx of finger, Hypoplastic iliac wing, Metaphyseal irregularity, Foot polydactyly, Hand... |
OMIM:208500 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Elbow dislocation, Brachydactyly, Postaxial hand polydactyly, Low... |
ORPHA:2916 |
| Rin2 Syndrome |
|
Hirsutism, Sparse scalp hair, Brachydactyly |
ORPHA:217335 |
| Lethal Kniest-Like Dysplasia |
|
Abnormality of the ischium, Hypoplastic ilia, Flared metaphysis, Brachydactyly, Broad long bones,... |
ORPHA:2347 |
| Grange Syndrome |
|
Syndactyly, Finger clinodactyly, Brachydactyly |
OMIM:602531 |
| Monosomy 18P |
|
Low posterior hairline, Alopecia, Brachydactyly |
ORPHA:1598 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Alopecia, Hallux valgus, Short metacarpal, Absent eyelashes, Absent eyebrow, Metaphyseal chondrod... |
ORPHA:166035 |
| Endocrine-Cerebroosteodysplasia |
|
Talipes equinovarus, Hitchhiker thumb, Brachydactyly, Syndactyly, Single transverse palmar crease... |
OMIM:612651 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Tapered finger, Hip contracture, Small hand, Clinodactyly, Clinodactyly of the 5th finger, Brachy... |
ORPHA:488642 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Slender long bone, Brachydactyly |
OMIM:618265 |
| Saethre-Chotzen Syndrome |
|
Triphalangeal thumb, Finger syndactyly, Hallux valgus, Clinodactyly of the 5th finger, Brachydact... |
ORPHA:794 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Clinodactyly, Brachydactyly |
OMIM:618048 |
| Thanatophoric Dysplasia Type 2 |
|
Abnormal metaphysis morphology, Brachydactyly |
ORPHA:93274 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Small hand, Aplasia/Hypoplasia involving the metacarpal bones, Proximal/middle symphalangism of 5... |
OMIM:268310 |
| Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Brachydactyly, Abnormal femoral epiphysis morphology |
ORPHA:3218 |
| Chromosome 17Q12 Duplication Syndrome |
|
Broad thumb, Brachydactyly |
OMIM:614526 |
| Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Aplasia/Hypoplasia of fingers, Upper limb phocomelia, Adactyly, Split hand, Br... |
ORPHA:989 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Humeroradial synostosis, Elbow flexion contracture, Narrow pelvis bone, Camptodactyly, Metatarsal... |
ORPHA:95699 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Short foot, Thick eyebrow, Patchy alopecia, Brachydactyly, Cubitus valgus, Short distal phalanx o... |
OMIM:300534 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Broad thumb, Brachydactyly |
ORPHA:171866 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Metaphyseal irregularity, Genu valgum, Tapered finger, Short long bone, Hip dislocation, Thick ey... |
OMIM:616007 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short phalanx of finger, Short metacarpal, Long hallux, Epiphyseal stippling, Cone-shaped epiphys... |
OMIM:101800 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Short phalanx of finger, Shoulder dislocation, Camptodactyly of finger, Deviation of the 5th fing... |
OMIM:143095 |
| Orofaciodigital Syndrome Type 6 |
|
Foot polydactyly, Mesoaxial polydactyly, Hand polydactyly, Syndactyly, Preaxial polydactyly, Brac... |
ORPHA:2754 |
| Coffin-Lowry Syndrome |
|
Tapered finger, Short metacarpal, Broad finger, Abnormal diaphysis morphology, Narrow iliac wing,... |
ORPHA:192 |
| Nicolaides-Baraitser Syndrome |
|
Short phalanx of finger, Hallux valgus, Sparse hair, Low posterior hairline, Long fingers, Broad ... |
OMIM:601358 |
| Trisomy 9P |
|
Brachydactyly, Clinodactyly of the 5th finger, Bilateral single transverse palmar creases |
ORPHA:236 |
| Pseudoaminopterin Syndrome |
|
Hip subluxation, Sparse scalp hair, Short 4th metacarpal, Limited elbow movement, Frontal upsweep... |
ORPHA:221120 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Partial duplication of the phalanx of hand, Clinodactyly, Camptodactyly, Partial duplication of t... |
OMIM:616331 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Hypoplastic iliac wing, Aplasia/Hypoplasia of the eyebrow, Coxa vara, Narrow pelvis bone, Clinoda... |
ORPHA:2637 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Hypoplastic ischia, Bowing of the legs, Incomplete ossification of pubis, Hirsutism, Brachydactyl... |
ORPHA:313855 |
| Smith-Magenis Syndrome |
|
Toe syndactyly, Synophrys, Hand polydactyly, Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:819 |
| Adams-Oliver Syndrome 5 |
|
Syndactyly, Dystrophic toenail, Brachydactyly |
OMIM:616028 |
| Nivelon-Nivelon-Mabille Syndrome |
|
Short phalanx of finger, Short metacarpal, Brachydactyly |
OMIM:600092 |
| Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Clinodactyly, Camptodactyly, Facial hypertrichosis, Brachydactyly, Talipes equinovarus |
ORPHA:397709 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Short phalanx of finger, Broad phalanges of the hand, Preaxial hand polydactyly, Limited elbow mo... |
ORPHA:508533 |
| Atelosteogenesis Type I |
|
Short long bone, Short femur, Brachydactyly, Abnormal ossification involving the femoral head and... |
ORPHA:1190 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Clinodactyly, Camptodactyly, Cone-shaped epiphyses of the phalanges of the hand, Short proximal p... |
ORPHA:261323 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Tapered finger, Camptodactyly, Long eyelashes, Breast hypoplasia, Brachydactyly, Finger clinodact... |
OMIM:601353 |
| Trisomy 20P |
|
Camptodactyly of finger, Preaxial hand polydactyly, Finger syndactyly, Coarse hair, Brachydactyly... |
ORPHA:261318 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
