| Sugarman Brachydactyly |
|
Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... |
OMIM:272150 |
| Brachydactyly, Type D |
|
Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly |
OMIM:113200 |
| Brachydactyly, Type A3 |
|
Type A brachydactyly, Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphy... |
OMIM:112700 |
| Familial Digital Arthropathy-Brachydactyly |
|
Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges... |
ORPHA:85169 |
| Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
| Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay |
|
Type A1 brachydactyly |
OMIM:188201 |
| Digital Arthropathy-Brachydactyly, Familial |
|
Brachytelomesophalangy, Short middle phalanx of finger, Radial deviation of finger, Short distal ... |
OMIM:606835 |
| Brachydactyly, Type A1, C |
|
Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi... |
OMIM:615072 |
| Cleidorhizomelic Syndrome |
|
Brachydactyly, Rhizomelia, Diaphyseal thickening, Clinodactyly of the 5th finger, Short middle ph... |
ORPHA:1453 |
| Triphalangeal Thumbs With Brachyectrodactyly |
|
Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly |
OMIM:190680 |
| Brachydactyly, Type A1, B |
|
Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of... |
OMIM:607004 |
| Brachydactyly, Type A1 |
|
Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi... |
OMIM:112500 |
| Brachydactyly, Type A4 |
|
Short middle phalanx of the 2nd finger, Short middle phalanx of the 5th finger, Type A brachydact... |
OMIM:112800 |
| Brachydactyly Type A2 |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f... |
ORPHA:93396 |
| Thiemann Disease, Familial Form |
|
Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:3314 |
| Liebenberg Syndrome |
|
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... |
OMIM:186550 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... |
ORPHA:3246 |
| Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
| Brachydactyly, Type A2, With Microcephaly |
|
Type A2 brachydactyly, Absent middle phalanx of 2nd finger, Thumbs hypoplastic with bulbous tips,... |
OMIM:211369 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Abnormal thumb morphology, Type A brachydactyly, Abnormal metacarpal morphology |
ORPHA:1078 |
| Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
| Heart-Hand Syndrome, Spanish Type |
|
Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydactyly |
OMIM:140450 |
| Banki Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo... |
ORPHA:1228 |
| Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
| Gombo Syndrome |
|
Clinodactyly, Radial deviation of finger, Brachydactyly |
OMIM:233270 |
| Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... |
OMIM:611263 |
| Coloboma Of Macula With Type B Brachydactyly |
|
Type B brachydactyly, Broad distal phalanx of the thumb, Absent distal phalanges, Bifid distal ph... |
OMIM:120400 |
| Arthrogryposis, Distal, Type 2B2 |
|
Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Shor... |
OMIM:618435 |
| Cooks Syndrome |
|
Split hand, Triphalangeal thumb, Dystrophic fingernails, Broad thumb, Dystrophic toenail, Brachyd... |
ORPHA:1487 |
| Exostoses With Anetodermia And Brachydactyly, Type E |
|
Type E brachydactyly |
OMIM:133690 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
| Brachydactyly Type B2 |
|
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
| Multiple Synostoses Syndrome |
|
Brachydactyly, Symphalangism affecting the phalanges of the hand, Cone-shaped epiphysis, Short pa... |
ORPHA:3237 |
| Brachydactyly Type C |
|
Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af... |
ORPHA:93384 |
| Brachydactyly Type B |
|
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
| Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Type B brachydactyly, Broad thumb, Camptodactyly of finger, Short distal phalanx of finger |
ORPHA:1471 |
| Brachydactyly, Type A2 |
|
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... |
OMIM:112600 |
| Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand |
OMIM:610140 |
| Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
| Tarsal-Carpal Coalition Syndrome |
|
Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ... |
OMIM:186570 |
| Hirschsprung Disease With Type D Brachydactyly |
|
Short thumb, Type D brachydactyly |
OMIM:306980 |
| Symphalangism, Distal |
|
Distal symphalangism of hands, Distal foot symphalangism, Absent dorsal skin creases over affecte... |
OMIM:185700 |
| Brachydactyly-Arterial Hypertension Syndrome |
|
Short metacarpal, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
| Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... |
OMIM:226900 |
| Hypertension And Brachydactyly Syndrome |
|
Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly |
OMIM:112410 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Elbow d... |
ORPHA:1275 |
| Feingold Syndrome Type 2 |
|
Short thumb, Toe syndactyly, Short middle phalanx of finger, Brachydactyly |
ORPHA:391646 |
| Chromosome 15Q13.3 Deletion Syndrome |
|
Clinodactyly of the 5th finger, Synophrys, Brachydactyly |
OMIM:612001 |
| Emery-Nelson Syndrome |
|
Camptodactyly of finger, Abnormal thumb morphology, Interphalangeal thumb joint contracture, Low ... |
ORPHA:1927 |
| Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Type E brachydactyly |
ORPHA:1962 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... |
ORPHA:52056 |
| 2q37 monosomy |
|
Brachydactyly |
DECIPHER:44 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Short toe, Short finger, Clinodactyly of the 5th finger, Short 5th metacarpal, Brachydactyly |
OMIM:604381 |
| 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 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, Broad ischia, Flat acetab... |
OMIM:609052 |
| Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... |
ORPHA:3250 |
| Tetrasomy X |
|
Clinodactyly of the 5th finger, Radioulnar synostosis, Hip dysplasia, Brachydactyly |
ORPHA:9 |
| Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... |
OMIM:112910 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... |
ORPHA:2639 |
| Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume... |
ORPHA:1350 |
| Smith-Magenis syndrome |
|
Brachydactyly |
DECIPHER:8 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
| Hirschsprung Disease-Type D Brachydactyly Syndrome |
|
Short phalanx of hallux, Short distal phalanx of the thumb, Brachydactyly |
ORPHA:2150 |
| Chromosome 20Q11-Q12 Deletion Syndrome |
|
Brachydactyly, Tarsal osteovalgus, Finger clinodactyly, Camptodactyly, Adducted thumb |
OMIM:614257 |
| Deafness, Congenital, With Onychodystrophy, Autosomal Dominant |
|
Toe syndactyly, Absent middle phalanx of 5th finger, Nail dystrophy, Triphalangeal thumb, Bilater... |
OMIM:124480 |
| Camptobrachydactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... |
ORPHA:1319 |
| Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Short metacarpal, Preaxial hand polydactyly, Radial club hand, Synophrys, Short metatarsal, Broad... |
ORPHA:1278 |
| Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly |
OMIM:619248 |
| Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
| Brachydactyly Type E |
|
Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper... |
ORPHA:93387 |
| Weyers Acrofacial Dysostosis |
|
Postaxial hand polydactyly, Postaxial foot polydactyly, Short palm, Clinodactyly of the 5th finge... |
OMIM:193530 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Triangular sha... |
ORPHA:370010 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital femoral epiphysi... |
ORPHA:93308 |
| Bardet-Biedl Syndrome 18 |
|
Brachydactyly |
OMIM:615995 |
| Camptobrachydactyly |
|
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Elbow dislocation, Short... |
ORPHA:968 |
| Brachydactyly-Nystagmus-Cerebellar Ataxia |
|
Short metacarpal, Short metatarsal, Brachydactyly |
OMIM:113400 |
| Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal shoulder morphology, Brachydactyly, Mesomelia |
ORPHA:1277 |
| Metaphyseal Acroscyphodysplasia |
|
Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga... |
ORPHA:1240 |
| 20Q11.2 Microdeletion Syndrome |
|
Finger clinodactyly, Adducted thumb, 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, Nail dystrophy, Sparse hair, Tiger tail banding, Brachydactyly |
OMIM:619692 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Metaphyseal widening, Abnormal femoral epiphysis morphology, Sho... |
ORPHA:750 |
| Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Abnormality of the elbow, Abnorma... |
ORPHA:429 |
| Brachydactyly, Type E2 |
|
Short metacarpal, Short metatarsal, Brachydactyly |
OMIM:613382 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Brachydactyly, Single transverse palmar crease, Abnormality of hair texture, Short first metatars... |
OMIM:601957 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum, Acetabular spurs, Bra... |
OMIM:617405 |
| Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Short metatarsal, Type E brachydactyly, Short 4th metacarpal |
OMIM:113301 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Brachydactyly, Short distal phalanx of finger |
ORPHA:2787 |
| Acromicric Dysplasia |
|
Abnormal eyebrow morphology, Short metacarpal, Small hand, Abnormal femur morphology, Long eyelas... |
ORPHA:969 |
| Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va... |
OMIM:617927 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
| Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp... |
OMIM:228900 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal metacarpal morphology, Clinodacty... |
ORPHA:2370 |
| Mal De Meleda |
|
Congenital symmetrical palmoplantar keratosis, Brachydactyly |
OMIM:248300 |
| Multiple Synostoses Syndrome 2 |
|
Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equinovarus, Carpal syn... |
OMIM:610017 |
| Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Abnormal hand morphology, Short digit, Short 5th metacarpal |
ORPHA:228190 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Mesome... |
OMIM:609616 |
| Tetralogy Of Fallot |
|
Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:3303 |
| Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures |
|
High anterior hairline, Sparse lateral eyebrow, Brachydactyly |
OMIM:618879 |
| Brachydactyly, Type E1 |
|
Short metacarpal, Short metatarsal, Short clavicles, Type E brachydactyly, Brachydactyly |
OMIM:113300 |
| Craniosynostosis 3 |
|
Hallux valgus, Low anterior hairline, Single transverse palmar crease, Brachydactyly |
OMIM:615314 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Brachydactyly, Hirsutism, Lower limb undergrowth, Bowing of the legs |
OMIM:612847 |
| Hypochondroplasia |
|
Brachydactyly, Flared metaphysis, Short long bone, Short femoral neck, Limited elbow extension, T... |
OMIM:146000 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of the hand, Sparse hair, Uncombable hair, Short 5th metacarpal, Brachydactyly |
ORPHA:1264 |
| Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short metatarsal, Hypoplasia of the ulna, Short metacarpa... |
OMIM:271700 |
| Sillence Syndrome |
|
Abnormal distal phalanx morphology of finger, Large tarsal bones, Metatarsus adductus, Chess-pawn... |
ORPHA:3168 |
| Keipert Syndrome |
|
Broad hallux, Broad distal phalanx of finger, Camptodactyly, Clinodactyly, Broad thumb, Brachydac... |
OMIM:301026 |
| Joubert Syndrome 15 |
|
Exencephaly |
OMIM:614464 |
| Charlie M Syndrome |
|
Finger syndactyly, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology, Brachydactyly |
ORPHA:1406 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Limited elbow extension, Short metatarsal, Flattened epiphy... |
ORPHA:1856 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Clinodactyly, Brachydactyly |
OMIM:610023 |
| Summitt Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Genu valgum, Short palm, Clinodactyly of the 5th fing... |
ORPHA:3210 |
| Acrodysplasia Scoliosis |
|
Brachydactyly |
ORPHA:2956 |
| Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Abnormal pelvic girdle bone morph... |
ORPHA:2928 |
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly |
OMIM:132450 |
| Multiple Synostoses Syndrome 4 |
|
Overlapping toe, Tarsal synostosis, Brachydactyly |
OMIM:617898 |
| Muenke Syndrome |
|
Broad hallux, Capitate-hamate fusion, Low anterior hairline, Cone-shaped epiphyses of the phalang... |
OMIM:602849 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Abnormal metacarpophalangeal joint morphology, Abnormality of tibial epiphyses, Abnormal acetabul... |
ORPHA:166011 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Delayed epiphyseal ossification, Fragmented epip... |
ORPHA:166016 |
| Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... |
OMIM:607778 |
| 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 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Capitate-hamate fusion, Short toe, Limited elbow extension, Genu valgum, Short ... |
OMIM:614078 |
| Terminal Osseous Dysplasia |
|
Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh... |
OMIM:300244 |
| Heart-Hand Syndrome, Slovenian Type |
|
Brachydactyly |
ORPHA:168796 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Cone-shaped epiphysis, Delayed epiphyseal ossification, Small hand, Brachydactyly |
OMIM:618618 |
| Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
| Jeune Syndrome |
|
Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Cone-shaped e... |
ORPHA:474 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatarsal, Short fo... |
OMIM:190351 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Coxa vara, Genu valgum, Deviation of finger, Deforme... |
ORPHA:2831 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
| Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Polydacty... |
ORPHA:65759 |
| Metatropic Dysplasia |
|
Epiphyseal dysplasia, Abnormal metaphyseal vascular invasion, Hyperplasia of the femoral trochant... |
OMIM:156530 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia... |
OMIM:113000 |
| Rhizomelic Syndrome, Urbach Type |
|
Abnormal hair quantity, Brachydactyly, Rhizomelia, Abnormality of the humerus, Preaxial hand poly... |
ORPHA:3098 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, Arthralgia of the hi... |
ORPHA:93307 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Metaphyseal widening, Coxa vara, Tibial bowing, Femoral bowing, Nar... |
OMIM:608940 |
| Cornelia De Lange Syndrome 2 |
|
Thick eyebrow, Proximal placement of thumb, Limited elbow movement, Highly arched eyebrow, Synoph... |
OMIM:300590 |
| Anauxetic Dysplasia 2 |
|
Metaphyseal dysplasia, Hypoplasia of the femoral head, Coxa valga, Coxa vara, Short femoral neck,... |
OMIM:617396 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arched eyebrow, Synophr... |
OMIM:605282 |
| Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome |
|
Short distal phalanx of finger, Brachytelomesophalangy |
ORPHA:1547 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epiphyses, Short pha... |
OMIM:177170 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Brachytelomesophalangy, Abnorma... |
ORPHA:2619 |
| Leri Pleonosteosis |
|
Camptodactyly of finger, Elbow dislocation, Abnormal finger morphology, Abnormal epiphysis morpho... |
ORPHA:2900 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Hip dysplasia, Short distal phalanx of finger, Brachydactyly, Hypoplastic iliac wing |
ORPHA:1858 |
| Nicolaides-Baraitser Syndrome |
|
Short palm, Alopecia, Sandal gap, Highly arched eyebrow, Curly eyelashes, Abnormal hair pattern, ... |
ORPHA:3051 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Sparse scalp hair, Single transverse palmar crease, Adducted thumb, High anterior hairline, Brach... |
OMIM:620062 |
| Phenobarbital Embryopathy |
|
Aplasia/Hypoplasia of fingers, Brachydactyly |
ORPHA:1919 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Widow's peak, Small hand, Broad finger, Clinodactyly, Short phalanx of finger, Thick eyebrow, Bra... |
OMIM:614684 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Brachydactyly, Acromesomelia |
ORPHA:40 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Alopecia, Osteolysis involving bones of the upper limbs, Osteolysis involving bones o... |
ORPHA:88630 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Spina bifida, Anencephaly, Cleft palate, Ectopic anus, Hypoplastic lef... |
ORPHA:2476 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Interphalangeal joint contractu... |
OMIM:151200 |
| Multiple Synostoses Syndrome 1 |
|
Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Cutaneous fin... |
OMIM:186500 |
| Pseudopseudohypoparathyroidism |
|
Short distal phalanx of the 3rd finger, Short metatarsal, Short 5th finger, Short distal phalanx ... |
ORPHA:79445 |
| Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Highly arched eyebrow, Sh... |
OMIM:600325 |
| Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Metaphyseal widening, Short metatarsal, Coxa vara, Genu ... |
OMIM:251450 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal radio-ulnar synostosis, Brachydactyly, Duplication of thumb phalanx, Short hallux, Tibia... |
ORPHA:363417 |
| Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Short thumb, Broad hallux, Brachydactyly |
OMIM:165800 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Bilateral single transverse palmar creases, Small hand, Short foot, Clinodactyly of the 5th finge... |
ORPHA:444002 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Brachydactyly, Abnormal thumb morphology, Abnormal metacarpal morphology, Abnormal finger morphol... |
ORPHA:2511 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... |
OMIM:617102 |
| Mesomelia-Synostoses Syndrome |
|
Abnormal eyebrow morphology, Brachydactyly, Micromelia, Abnormality of the hand, Abnormality of t... |
ORPHA:2496 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Brachydactyly |
OMIM:613819 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Clinodactyly, Hypoplastic pubic bone, Coxa vara, Genu ... |
OMIM:184250 |
| Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal... |
OMIM:140000 |
| Satoyoshi Syndrome |
|
Short metacarpal, Alopecia, Short metatarsal, Osteolytic defects of the phalanges of the hand, Ge... |
OMIM:600705 |
| Craniofrontonasal Dysplasia |
|
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should... |
ORPHA:1520 |
| Waardenburg Syndrome, Type 3 |
|
Scapular winging, Camptodactyly of finger, Synophrys, Premature graying of hair, Cutaneous finger... |
OMIM:148820 |
| Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Split hand, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Bra... |
ORPHA:2850 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met... |
ORPHA:93314 |
| Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal diaphysis morphology, Sparse hair, Clinoda... |
ORPHA:1515 |
| Acrocephalopolydactyly |
|
Limb undergrowth, Short long bone, Brachydactyly |
ORPHA:221054 |
| Potocki-Shaffer Syndrome |
|
Sparse lateral eyebrow, 2-5 finger cutaneous syndactyly, Single transverse palmar crease, Brachyd... |
OMIM:601224 |
| Odontochondrodysplasia 1 |
|
Short metacarpal, Brachydactyly, Micromelia, Metaphyseal widening, Flat acetabular roof, Cone-sha... |
OMIM:184260 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Short middle phalanx of finger, Brachydactyly |
ORPHA:1436 |
| Microcephaly, Short Stature, And Limb Abnormalities |
|
Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Patellar hypoplasia,... |
OMIM:617604 |
| Erythrokeratodermia Variabilis |
|
Alopecia, Tapered finger, Abnormal hair morphology, Patchy palmoplantar hyperkeratosis, Generaliz... |
ORPHA:317 |
| Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Abnormality of the hand, Dystrophic fingernails, Abnormal diaphysis morphology... |
ORPHA:1657 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, Flat glenoid f... |
OMIM:250420 |
| Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn... |
ORPHA:93333 |
| Intellectual Developmental Disorder, Autosomal Dominant 59 |
|
Short foot, Brachydactyly, Highly arched eyebrow, Short palm |
OMIM:618522 |
| Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Brachydactyly |
OMIM:617169 |
| Chromosome 15Q26-Qter Deletion Syndrome |
|
Short middle phalanx of finger, Talipes equinovarus, Brachydactyly |
OMIM:612626 |
| Anauxetic Dysplasia 3 |
|
Sparse scalp hair, Short metacarpal, Broad eyebrow, Hip subluxation, Squared iliac bones, High an... |
OMIM:618853 |
| Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... |
OMIM:615986 |
| Non-Distal Deletion 10Q |
|
Brachydactyly, Synophrys, Clinodactyly of the 5th finger, Overlapping fingers, Bilateral single t... |
ORPHA:1581 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Syndactyly, Highly arched eyebrow, Genu varum, Hip dislocation, Deep palmar crease, Long eyelashe... |
OMIM:619451 |
| Abruzzo-Erickson Syndrome |
|
Toe syndactyly, Short toe, Ulnar deviation of finger, Radioulnar synostosis, Brachydactyly |
ORPHA:921 |
| Lowry-Wood Syndrome |
|
Epiphyseal dysplasia, Abnormality of nail color, Elbow dislocation, Coxa vara, Irregular epiphyse... |
ORPHA:1824 |
| Keratoconus Posticus Circumscriptus |
|
Clinodactyly of the 5th finger, Limited elbow extension and supination, Brachydactyly |
OMIM:244600 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Short metatarsal, Advanced ossification of carpal bones, Cone-shaped epiphysis,... |
OMIM:614613 |
| Moebius Syndrome |
|
Syndactyly, Brachydactyly, Split hand, Abnormal pelvic girdle bone morphology, Talipes equinovaru... |
OMIM:157900 |
| Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Curly hair, Brachydactyly, Broad long bones, Abnormal metatarsal morphology, Curly eyelashes, Mul... |
ORPHA:163654 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Metaphyseal... |
ORPHA:440354 |
| Roifman Syndrome |
|
Hip contracture, Short metacarpal, Single transverse palmar crease, Short toe, Irregular femoral ... |
OMIM:616651 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Abnormality of the elbo... |
ORPHA:3121 |
| Frontonasal Dysplasia 1 |
|
Postaxial hand polydactyly, Widow's peak, Pectoral muscle hypoplasia/aplasia, Radial deviation of... |
OMIM:136760 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Hand polydactyly, Foot polydactyly, Short finger, Short ti... |
OMIM:258860 |
| Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Short foot, Abnormal diaphysis morphology, Abnormal epip... |
ORPHA:3409 |
| Temtamy Syndrome |
|
Clinodactyly of the 5th finger, Short toe, Brachydactyly, Genu varum |
ORPHA:1777 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Clinodactyly of the 5th finger, Synophrys, Down-sloping shoulders, Brachydactyly |
ORPHA:1390 |
| Bardet-Biedl Syndrome 3 |
|
Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
| Roifman Syndrome |
|
Hip contracture, Brachydactyly, Epiphyseal dysplasia, Delayed proximal femoral epiphyseal ossific... |
ORPHA:353298 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Metaphyseal widening, Squared iliac bones, Short long bone, Limb undergrowth, Coar... |
OMIM:618961 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short metacarpal, Single interphalangeal crease of fifth finger, Curly eyelashes, Hypoplastic ili... |
OMIM:611717 |
| Laurence-Moon Syndrome |
|
Finger syndactyly, Brachydactyly, Hand polydactyly, Bilateral single transverse palmar creases |
ORPHA:2377 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Short long bone, Postaxial polydactyly, Brachydactyly |
OMIM:615633 |
| Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:142900 |
| Chst3-Related Skeletal Dysplasia |
|
Short metacarpal, Rhizomelia, Highly arched eyebrow, Sparse eyebrow, Abnormality of the elbow, Ge... |
ORPHA:263463 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Broad hallux, Clinodactyly of the 2nd toe, Coxa valga, Hirsutism, Short distal phalanx of the 5th... |
OMIM:620073 |
| Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ... |
OMIM:187601 |
| Atelosteogenesis Type Ii |
|
Micromelia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the hand or of fingers... |
ORPHA:56304 |
| Dyggve-Melchior-Clausen Disease |
|
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow... |
OMIM:223800 |
| Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle |
OMIM:173800 |
| Oculomaxillofacial Dysostosis |
|
Brachydactyly, Camptodactyly of finger, Abnormality of the humerus, Abnormal eyelash morphology, ... |
ORPHA:1794 |
| Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome |
|
Sparse scalp hair, Arachnodactyly, Cone-shaped epiphysis, Palmoplantar keratoderma, Brachydactyly |
ORPHA:2824 |
| Pfeiffer Syndrome |
|
Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of the hand, Hip dysplasi... |
ORPHA:710 |
| Pseudohypoparathyroidism, Type Ib |
|
Short metacarpal, Brachydactyly |
OMIM:603233 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Hallux valgus, Scapular winging, Toe syndactyly, Brachydactyly, Camptodactyly of finger, Highly a... |
ORPHA:1327 |
| Lowry-Wood Syndrome |
|
Squared iliac bones, Limited elbow extension, Hip dislocation, Elbow flexion contracture, Irregul... |
OMIM:226960 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Short foot, Widow's peak, Brachydactyly |
OMIM:266265 |
| Anauxetic Dysplasia 1 |
|
Hip contracture, Rhizomelia, Hypoplastic ilia, Short toe, Flared metaphysis, Elbow flexion contra... |
OMIM:607095 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Ivory epiphyses, Sparse scalp hair, Brachydactyly, Radial bowing, Pseudoepiphyses of the metacarp... |
OMIM:210720 |
| Marinesco-Sjögren Syndrome |
|
Short palm, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnormal finger morp... |
ORPHA:559 |
| Greenberg Dysplasia |
|
Abnormal pelvis bone ossification, Rhizomelia, Micromelia, Brachydactyly |
ORPHA:1426 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ... |
OMIM:614091 |
| Schaaf-Yang Syndrome |
|
Rocker bottom foot, Tapered finger, Small hand, Narrow palm, Short foot, Camptodactyly, Clinodact... |
OMIM:615547 |
| Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Brachydactyly, Thick hair, Synophrys, Hip dysplasia, Long eyelashes, Horizontal eyebrow, Clinodac... |
OMIM:618381 |
| Cardiospondylocarpofacial Syndrome |
|
Brachydactyly, Synostosis of carpal bones, Short palm |
ORPHA:3238 |
| Achondroplasia |
|
Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Abnorm... |
ORPHA:15 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Hallux valgus, Broad hallux, Tapered finger, Long fingers, Short toe, 2-3 toe syndactyly, Cone-sh... |
OMIM:618659 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femoral head, Shor... |
ORPHA:457395 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Rhizomelia, Metaphyseal widening, Irregular epiphyses, Short finger, Mesomelia, Broad thumb, Brac... |
OMIM:612813 |
| Progressive Osseous Heteroplasia |
|
Brachydactyly |
ORPHA:2762 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation... |
OMIM:300106 |
| Weill-Marchesani Syndrome |
|
Short thumb, Brachydactyly |
ORPHA:3449 |
| Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Sandal gap, Tapered finger, Preaxial hand polydactyly, Short toe, Synophrys, Widow... |
OMIM:620072 |
| Acrodysostosis |
|
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ... |
ORPHA:950 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Rhizomelia, Supernumerary nipple, Short iliac bones, Metaphyseal widening, Short foot, Acetabular... |
OMIM:614376 |
| Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Metaphyseal widening, Low anterior hairline, Broad palm, Coxa vara, Flattened epiphysis, Metaphys... |
OMIM:300232 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Split hand, Micromelia, Brachydactyly |
ORPHA:2145 |
| 20P13 Microdeletion Syndrome |
|
Finger syndactyly, Highly arched eyebrow, Synophrys, Polydactyly, Clinodactyly, Brachydactyly |
ORPHA:313781 |
| Pseudopseudohypoparathyroidism |
|
Short metacarpal, Short metatarsal, Brachydactyly |
OMIM:612463 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... |
ORPHA:85167 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal epiphysis morphology, Brachydactyly |
ORPHA:2643 |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Brachydactyly, Synophrys, Genu valgum, Abnormal metacarpal morphology, Short distal phalanx of fi... |
ORPHA:1295 |
| Carpenter Syndrome 1 |
|
Brachydactyly, Toe syndactyly, Duplication of the proximal phalanx of the hallux, Aplasia/Hypopla... |
OMIM:201000 |
| Kury-Isidor Syndrome |
|
Finger syndactyly, Alopecia, Rocker bottom foot, Proximal placement of thumb, Hypertrichosis, Hip... |
OMIM:619762 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Hypoplastic ilia, Hypoplastic i... |
OMIM:151210 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Limited elbow extension and supination, Short thumb, Synophrys, Dislocated radial head, Brachydac... |
ORPHA:401935 |
| Pde4D Haploinsufficiency Syndrome |
|
Short metacarpal, Broad hallux, Short toe, Short metatarsal, Upper limb undergrowth, Cone-shaped ... |
ORPHA:439822 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Long eyelashes, Camptodactyly of finger, Brachydactyly |
ORPHA:2863 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ... |
OMIM:269250 |
| Mohr Syndrome |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Flared metaphysis, Postaxial f... |
OMIM:252100 |
| 16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Tapered finger, 2-3 toe syndactyly, Clinodactyly of the 4th finger, Short 5th fing... |
ORPHA:485405 |
| Hall-Riggs Syndrome |
|
Slow-growing hair, Thick hair, Coarse hair, Abnormal epiphysis morphology, Limb undergrowth, Abno... |
ORPHA:2107 |
| Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... |
OMIM:615994 |
| Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Short nail, Cone-shaped epiphyses of the phalanges of the ha... |
ORPHA:420794 |
| Spastic Paraplegia 20, Autosomal Recessive |
|
Ulnar deviation of the hand, Short foot, Hammertoe, Camptodactyly, Clinodactyly, Brachydactyly |
OMIM:275900 |
| Coffin-Siris Syndrome 2 |
|
Sparse scalp hair, Thick eyebrow, Sandal gap, Low anterior hairline, Long eyelashes, Short distal... |
OMIM:614607 |
| Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Abnormal ili... |
ORPHA:1427 |
| Weill-Marchesani Syndrome 3 |
|
Brachydactyly |
OMIM:614819 |
| Cardioacrofacial Dysplasia 2 |
|
Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot polydactyly, Limb undergrowth, ... |
OMIM:619143 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Sparse scalp hair, Abnormality of the elbow, Low posterior hairline, Aplasia/Hypoplasia of the ey... |
ORPHA:2701 |
| Acrofrontofacionasal Dysostosis |
|
Camptodactyly of finger, Micromelia, Abnormal epiphysis morphology, Short distal phalanx of finge... |
ORPHA:1784 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
| Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Brachydactyly, Talipes equinovarus, Camptodactyly, Clinodactyly, Hypertrichosis |
OMIM:616354 |
| Larsen Syndrome |
|
Finger syndactyly, Short nail, Accessory carpal bones, Abnormal epiphysis morphology, Broad dista... |
ORPHA:503 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Scapular winging, Single transverse palmar crease, Micromelia, Monkey wrench femoral neck, 2-3 to... |
OMIM:618870 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patella... |
OMIM:609945 |
| Adams-Oliver Syndrome 6 |
|
Syndactyly, Foot oligodactyly, Brachydactyly |
OMIM:616589 |
| Opsismodysplasia |
|
Tapered finger, Squared iliac bones, Hypoplastic pubic bone, Abnormal epiphysis morphology, Abnor... |
ORPHA:2746 |
| Müllerian Aplasia And Hyperandrogenism |
|
Thick eyebrow, Frontal balding, Synophrys, Facial hirsutism, Cubitus valgus, High anterior hairli... |
ORPHA:247768 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Alopecia, Abnormality of the elbow, Hip dislocation, Short middle phalanx of f... |
ORPHA:1005 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Brachydactyly |
OMIM:610498 |
| Al-Raqad Syndrome |
|
Sandal gap, Brachydactyly |
OMIM:616459 |
| Suleiman-El-Hattab Syndrome |
|
Thick eyebrow, Single transverse palmar crease, Highly arched eyebrow, Frontal hirsutism, Synophr... |
OMIM:618950 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Cone-shaped metacarpal epiphyses, Iliac crest serration, Widened greater sciati... |
OMIM:250220 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Broad hallux, Sandal gap, Mesomelia, Long eyelashes, Camptodactyly, Prominent fingertip pads, Cli... |
OMIM:618529 |
| Bent Bone Dysplasia Syndrome 1 |
|
Bent long bone, Hypoplastic pubic bone, Short clavicles, Hirsutism, Brachydactyly |
OMIM:614592 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Ulnar bowing, ... |
OMIM:617866 |
| 15Q24 Microdeletion Syndrome |
|
Proximal placement of thumb, Abnormal thumb morphology, Abnormal toe morphology, Small hand, High... |
ORPHA:94065 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Single transverse palmar crease, 2-3 toe syndactyly, Cutaneous syndactyly, Talipes equinovarus, C... |
OMIM:236500 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Clinodactyly, Single transverse palmar crease, Brachydactyly, Camptodactyly |
OMIM:613604 |
| 2Q31.1 Microdeletion Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,... |
ORPHA:251014 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Brachy... |
OMIM:617895 |
| Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Brachydactyly |
OMIM:234250 |
| 2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Sparse scalp hair, Highly arc... |
ORPHA:1001 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Synophrys, 2-3 toe syndactyly, Talipes equinovarus, Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:3306 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Scapular winging, Thick eyebrow, Sandal gap, Single transverse palmar crease, Tapered finger, Syn... |
OMIM:617061 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu... |
OMIM:615503 |
| Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Highly arc... |
ORPHA:783 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Exencephaly |
ORPHA:2211 |
| Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo... |
ORPHA:1860 |
| Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar crease, Widow's pea... |
OMIM:305400 |
| Frank-Ter Haar Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Camptodactyly of finger, Abnormal metacarpal morph... |
ORPHA:137834 |
| Thanatophoric Dysplasia |
|
Micromelia, Abnormal sacroiliac joint morphology, Hip dysplasia, Abnormal ilium morphology, Abnor... |
ORPHA:2655 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Short toe, Brachydactyly |
ORPHA:3085 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Metaphyseal dysplasia, Radial bowing, Broad hallux, Rhizomelia, Bowed humerus, Flared metaphysis,... |
OMIM:618019 |
| Laron Syndrome |
|
Short toe, Abnormality of the elbow, Brachydactyly |
ORPHA:633 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Fine hair, Thi... |
OMIM:614800 |
| Specific Granule Deficiency 2 |
|
Sandal gap, Hirsutism, Brachydactyly |
OMIM:617475 |
| Acrofacial Dysostosis, Catania Type |
|
Finger syndactyly, Brachydactyly, Abnormal hair pattern, Small hand, Coarse hair, Short palm, Cli... |
ORPHA:1786 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of the hand, Genu valgum, Shor... |
OMIM:615630 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Syndactyly, Short digit, Sparse scalp hair, Proximal placement of thumb, Sparse eyebrow, Talipes ... |
OMIM:615789 |
| Chromosome 2Q37 Deletion Syndrome |
|
Short metacarpal, Short fourth metatarsal, Highly arched eyebrow, Short toe, Short phalanx of fin... |
OMIM:600430 |
| Vitamin K Antagonist Embryofetopathy |
|
Epiphyseal stippling, Brachydactyly, Short distal phalanx of finger |
ORPHA:1914 |
| Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Down-sloping shoulders, Tapered finger, Abnormal thumb morphology, Coxa var... |
ORPHA:1452 |
| Trichorhinophalangeal Syndrome Type 2 |
|
Sparse scalp hair, Bilateral single transverse palmar creases, Avascular necrosis of the capital ... |
ORPHA:502 |
| Fountain Syndrome |
|
Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Synophrys, Large hands, Abnormal met... |
ORPHA:3219 |
| Lujan-Fryns Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Brachydactyly |
ORPHA:776 |
| Atelosteogenesis, Type I |
|
Short humerus, Short metacarpal, Radial bowing, Club-shaped proximal femur, Rhizomelia, Short fem... |
OMIM:108720 |
| Jansen-De Vries Syndrome |
|
Short foot, Small hand, Brachydactyly |
OMIM:617450 |
| Lymphedema-Hypoparathyroidism Syndrome |
|
Hypertrichosis, Increased carrying angle, Brachydactyly |
OMIM:247410 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Bilateral single transverse palmar creases, Abnormal hair pattern, Large hands, Broad thumb, Brac... |
ORPHA:1770 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Sandal gap, Small hand, Short foot, Brachydactyly |
OMIM:300354 |
| Temtamy Syndrome |
|
Highly arched eyebrow, Hip dislocation, Short 2nd toe, Talipes equinovarus, Brachydactyly |
OMIM:218340 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Brachydactyly, Rhizomelia, Broad thumb, Mesomelia |
ORPHA:171866 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Short metacarpal, Brachydactyly, Rhizomelia, Short metatarsal, Small hand, Cone-shaped epiphysis,... |
OMIM:614813 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Sandal gap, 2-3 toe syndactyly, Small thenar eminence, Joint contracture of the 4th finger, Joint... |
OMIM:618914 |
| Alg6-Cdg |
|
Shortening of all distal phalanges of the fingers, Brachydactyly |
ORPHA:79320 |
| Feingold Syndrome |
|
Hallux valgus, Toe syndactyly, Deviation of the 2nd finger, Clinodactyly of the 5th finger, Brach... |
ORPHA:1305 |
| Tonne-Kalscheuer Syndrome |
|
Fine hair, Broad thumb, Brachydactyly |
OMIM:300978 |
| Craniorachischisis |
|
Omphalocele, Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism... |
ORPHA:63260 |
| Achondroplasia |
|
Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, Ulnar bowing, Flared m... |
OMIM:100800 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Patchy alopecia, Broad distal phalanx of finger, Sparse hair, Broad thumb, Brachydactyly |
OMIM:617763 |
| Adams-Oliver Syndrome |
|
Finger syndactyly, Brachydactyly, Alopecia, Absent toe, Split hand, Absent hand, Abnormality of t... |
ORPHA:974 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Bilateral single transverse palmar creases, Camptodactyly of finger, Abnormal hair pattern, Highl... |
ORPHA:2083 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... |
OMIM:306955 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Single transverse palmar crease, Coxa valga, Narrow ... |
OMIM:617425 |
| Stuve-Wiedemann Syndrome 1 |
|
Single transverse palmar crease, Tibial bowing, Femoral bowing, Sparse hair, Short tibia, Short p... |
OMIM:601559 |
| Smith-Magenis Syndrome |
|
Synophrys, Broad palm, Short palm, Abnormal forearm morphology, Brachydactyly |
OMIM:182290 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Brachydactyly, Generalized hirsutism, Short distal phalanx of finger |
ORPHA:1563 |
| Coffin-Siris Syndrome 6 |
|
Clinodactyly, Brachydactyly |
OMIM:617808 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Single transverse palmar crease, Highly arched eyebrow, Synophrys, 2-3 toe syndactyly... |
OMIM:614701 |
| Microcephaly-Capillary Malformation Syndrome |
|
Abnormal hair whorl, Clinodactyly, Brachydactyly, Short distal phalanx of finger |
OMIM:614261 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Brachydactyly, Abnormal metacarpal morphology |
ORPHA:93262 |
| Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bilateral single transverse pa... |
ORPHA:3103 |
| Codas Syndrome |
|
Short metacarpal, Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Abnormal ep... |
ORPHA:1458 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A... |
ORPHA:570 |
| Chitayat Syndrome |
|
Hallux valgus, Brachydactyly |
OMIM:617180 |
| Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Sandal gap, Postaxial polydactyly, Short nail, 2-4 toe syndactyly, 2-3 toe syndactyly... |
OMIM:614099 |
| Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Symphalangism affecting the phalanges of the hand, Short distal phalanx of toe, Clinodactyly of t... |
ORPHA:1292 |
| Oculodentodigital Dysplasia |
|
Finger syndactyly, Curly hair, Toe syndactyly, Brittle hair, Camptodactyly of finger, Short hallu... |
ORPHA:2710 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Coxa valga, Short distal phalanx of finger |
ORPHA:2163 |
| Pseudohypoparathyroidism, Type Ia |
|
Short metacarpal, Short toe, Short metatarsal, Short finger, Brachydactyly |
OMIM:103580 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Scapular winging, Short metacarpal, Toe syndactyly, Short metatarsal, Small hand, Small finger, S... |
OMIM:170390 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Laterally extended eyebrow, Toe syndactyly, Thick eyebrow, Single transverse palmar crease, Proxi... |
OMIM:610759 |
| Orofaciodigital Syndrome Vi |
|
Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Pr... |
OMIM:277170 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Metaphyseal dysplasia, Short metacarpal, Sparse eyelashes, Sparse eyebrow, Metaphyseal chondrodys... |
OMIM:250410 |
| Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Adactyly, Split hand, Aplasia/Hypoplasia of fingers, Upper limb... |
ORPHA:989 |
| Aredyld Syndrome |
|
Abnormal pelvic girdle bone morphology, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Brac... |
ORPHA:1133 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Short fourth metatarsal, Patellar hypoplasia, Brachydactyly |
ORPHA:464288 |
| Corneodermatoosseous Syndrome |
|
Abnormality of the hand, Abnormal finger morphology, Palmoplantar keratoderma, Short palm, Abnorm... |
ORPHA:3194 |
| Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Brachydactyly |
ORPHA:436245 |
| Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ... |
ORPHA:2347 |
| Distal Deletion 10Q |
|
Scapular winging, Sandal gap, Single transverse palmar crease, Tapered finger, 2-3 toe cutaneous ... |
ORPHA:96148 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Brachydactyly, Sandal gap, Broad hallux, Scarring alopecia of scalp, Clinodactyly, 3-4 toe syndac... |
OMIM:618727 |
| Thanatophoric Dysplasia Type 2 |
|
Abnormal metaphysis morphology, Micromelia, Brachydactyly |
ORPHA:93274 |
| Osteoglophonic Dysplasia |
|
Short metacarpal, Hypoplastic scapulae, Rhizomelia, Bowing of the long bones, Camptodactyly of fi... |
OMIM:166250 |
| Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... |
OMIM:612651 |
| Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Abnormal ossification involving the femoral head and neck, Abnormal fibu... |
ORPHA:1190 |
| Coffin-Siris Syndrome 7 |
|
Clinodactyly of the 5th finger, Sparse scalp hair, Thick eyebrow, Brachydactyly |
OMIM:618027 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Radial bowing, Mes... |
OMIM:268310 |
| Gorlin Syndrome |
|
Palmar pits, Arachnodactyly, Brachydactyly |
ORPHA:377 |
| Radio-Tartaglia Syndrome |
|
Thick eyebrow, Highly arched eyebrow, Tapered finger, Long eyebrows, Synophrys, Low anterior hair... |
OMIM:619312 |
| Rhyns Syndrome |
|
Short long bone, Radial bowing, Short femoral neck, Brachydactyly |
OMIM:602152 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Brachydactyly |
ORPHA:2180 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Hip contracture, Brachydactyly, Overlapping toe, Rocker bottom foot, Tapered finger, 4-5 toe synd... |
ORPHA:488642 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-shaped epiphyses of... |
OMIM:208500 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Absent eyebrow, Short metacarpal, Alopecia, Absent eyelashes, Metaphyseal chondrod... |
ORPHA:166035 |
| Monosomy 18P |
|
Alopecia, Low posterior hairline, Brachydactyly |
ORPHA:1598 |
| Grange Syndrome |
|
Finger clinodactyly, Syndactyly, Brachydactyly |
OMIM:602531 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Ulnar deviation of the wrist, 2-3 toe syndactyly, Irregular epiphyses, Mesomelia, Cli... |
OMIM:618162 |
| Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Abnormal hair p... |
ORPHA:794 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Elbow dislocation, Postaxial hand polydactyly, Low posterior hairline, Clinodactyly of the 5th fi... |
ORPHA:2916 |
| Rin2 Syndrome |
|
Sparse scalp hair, Hirsutism, Brachydactyly |
ORPHA:217335 |
| Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Short phalanx of finger, Micromelia, Brachydactyly |
OMIM:600092 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Slender long bone, Brachydactyly |
OMIM:618265 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Brachydactyly, Rhizomelia, Flat capital femoral epiphysis, Metaphyseal widening, Coxa vara, Genu ... |
OMIM:271510 |
| Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Abnormal femoral epiphysis morphology, Brachydactyly |
ORPHA:3218 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Brachydactyly, Partial duplication of thumb phalanx, Partial duplication of the phalanx of hand, ... |
OMIM:616331 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Clinodactyly, Brachydactyly |
OMIM:618048 |
| Chromosome 17Q12 Duplication Syndrome |
|
Broad thumb, Brachydactyly |
OMIM:614526 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Femoral bowing, Abnormality of the wrist, Elbow ankylosis, Short metacarpal, Abnormal metacarpal ... |
ORPHA:95699 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Micromelia, Coxa vara, Fine hair, Narrow pelvis bone, Abnormal epiphysis morphology, Hypoplastic ... |
ORPHA:2637 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Short proximal phalanx of the 2nd finger, Cone-shaped e... |
ORPHA:261323 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Short foot, Large hands, Patchy alopecia, Talipes equinovarus, Cubitus valgus, Short distal phala... |
OMIM:300534 |
| Craniofrontonasal Syndrome |
|
Curly hair, Toe syndactyly, Broad hallux, Down-sloping shoulders, Unilateral breast hypoplasia, W... |
OMIM:304110 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Thick eyebrow, Congenital hip dislocation, Tapered finger, Delayed epiphyseal ossification, Flare... |
OMIM:616007 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Short metacarpal, Limited elbow movement, Preaxial hand polydactyly, Enlarged metaphyses, Abnorma... |
ORPHA:508533 |
| Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Highly arched eyebrow, Central Y-shaped metacarpal, Preaxial p... |
ORPHA:2754 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short metacarpal, Brachydactyly, Neonatal epiphyseal stippling, Short metatarsal, Broad palm, Con... |
OMIM:101800 |
| Nicolaides-Baraitser Syndrome |
|
Dry hair, Single transverse palmar crease, Short metatarsal, Low anterior hairline, Prominent int... |
OMIM:601358 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Tibial bowing, Shoulder dislocation, Short phalanx of finger, Bilateral single transverse palmar ... |
OMIM:143095 |
| Coffin-Lowry Syndrome |
|
Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, Tapered finger, Large hands,... |
ORPHA:192 |
| Smith-Magenis Syndrome |
|
Toe syndactyly, Synophrys, Hand polydactyly, Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:819 |
| Osteoglosphonic Dysplasia |
|
Rhizomelia, Brachydactyly |
ORPHA:2645 |
| Adams-Oliver Syndrome 5 |
|
Syndactyly, Dystrophic toenail, Brachydactyly |
OMIM:616028 |
| Greenberg Dysplasia |
|
Short metacarpal, Ulnar deviation of the hand, Rhizomelia, Micromelia, Diaphyseal thickening, Pos... |
OMIM:215140 |
| Pseudoaminopterin Syndrome |
|
Sparse scalp hair, Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow... |
ORPHA:221120 |
| Trisomy 9P |
|
Clinodactyly of the 5th finger, Brachydactyly, Bilateral single transverse palmar creases |
ORPHA:236 |
| Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Abnormal diaphysis morphology, Abnorma... |
ORPHA:2021 |
| Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Talipes equinovarus, Camptodactyly, Facial hypertrichosis, Clinodactyly, Brachydactyly |
ORPHA:397709 |
| Dysostosis, Stanescu Type |
|
Bowing of the long bones, Micromelia, Abnormal epiphysis morphology, Massively thickened long bon... |
ORPHA:1798 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Hypoplastic ischia, Bowing of the legs, Hirsutism, Short clavicles, Steep acetabular roof, Incomp... |
ORPHA:313855 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Rocker bottom foot, Tapered finger, Finger clinodactyly, Long eyelashes, Camptodactyly, Absent ax... |
OMIM:601353 |
| Trisomy 20P |
|
Finger syndactyly, Camptodactyly of finger, Highly arched eyebrow, Thick hair, Preaxial hand poly... |
ORPHA:261318 |
| Developmental And Epileptic Encephalopathy 95 |
|
Short fourth metatarsal, Brachydactyly, Single transverse palmar crease, Highly arched eyebrow, C... |
OMIM:618143 |
| Cranioectodermal Dysplasia 1 |
|
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar crease, Broad dista... |
OMIM:218330 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Carpal synostosis, Epiphyseal dysplasia, Scapular winging, Short metacarpal, Bowed humerus, Tarsa... |
OMIM:272460 |
| Gracile Bone Dysplasia |
|
Slender long bone, Flared metaphysis, Brachydactyly |
OMIM:602361 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Bowing of the legs, Short toe, Broad palm, Short foot, Short long bone, Hyp... |
OMIM:269860 |
| Alg8-Cdg |
|
Brachydactyly, Talipes equinovarus, Camptodactyly |
ORPHA:79325 |
| Craniosynostosis 2 |
|
Triphalangeal thumb, Brachydactyly |
OMIM:604757 |
| Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, Abnormality of t... |
ORPHA:2911 |
| Campomelia, Cumming Type |
|
Bowing of the long bones, Clubbing of toes, Micromelia, Brachydactyly |
ORPHA:1318 |
| Orofaciodigital Syndrome Xix |
|
Toe syndactyly, Broad hallux, Type A brachydactyly, Postaxial hand polydactyly, Low posterior hai... |
OMIM:620107 |
| Pseudohypoparathyroidism, Type Ic |
|
Short metacarpal, Short metatarsal, Brachydactyly |
OMIM:612462 |
| Kabuki Syndrome 2 |
|
Highly arched eyebrow, Hip dislocation, Short 5th finger, Long eyelashes, Prominent fingertip pad... |
OMIM:300867 |
| Short Syndrome |
|
Sparse hair, Alopecia, Brachydactyly, Short palm |
ORPHA:3163 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Abnormal acetabulum morphology, Postaxial polydactyly, Supernumerary nipple, Rhizomelic leg short... |
ORPHA:397715 |
| Autosomal Recessive Robinow Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Bilateral single transverse palmar creas... |
ORPHA:1507 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Proximal placement of thumb, Short palm, Clinodactyly, Brachydactyly |
OMIM:217980 |
| Orofaciodigital Syndrome Type 1 |
|
Finger syndactyly, Alopecia, Brittle hair, Tarsal synostosis, Preaxial hand polydactyly, Short to... |
ORPHA:2750 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Dry hair, Hypopigmentation of hair, Down-sloping shoulders, Widow's peak, Shor... |
ORPHA:1974 |
| Intellectual Developmental Disorder, Autosomal Recessive 78 |
|
Clinodactyly of the 5th finger, Cubitus valgus, Brachydactyly |
OMIM:620237 |
| Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Coxa vara, Ivory epip... |
ORPHA:93357 |
| Bardet-Biedl Syndrome 1 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ... |
OMIM:209900 |
| Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Palmoplantar hyperkeratosis, Tibial bowing, Short foot, Slender long bone, Osteoly... |
OMIM:601812 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Brachydactyly, Short palm |
ORPHA:3217 |
| Down Syndrome |
|
Sandal gap, Bilateral single transverse palmar creases, Sparse hair, Clinodactyly of the 5th fing... |
ORPHA:870 |
| Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Limited elbow movement, Limited wrist movement, Short foot, Limb undergrowt... |
OMIM:617809 |
| 3C Syndrome |
|
Finger syndactyly, Hand polydactyly, Abnormal hip bone morphology, Brachydactyly |
ORPHA:7 |
| Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Sparse scalp hair, Toe syndactyly, Sandal gap, Abnormality of th... |
ORPHA:235 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Brachydactyly, Brittle hair, Short long bone, Short palm |
OMIM:619184 |
| Pycnodysostosis |
|
Rhizomelia, Hypoplastic iliac wing, Small hand, Short foot, Osteolytic defects of the distal phal... |
ORPHA:763 |
| Occipital Horn Syndrome |
|
Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the humerus, Coxa... |
ORPHA:198 |
| Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Long eyelashes, Broad lateral eyebrow, Brachydactyly |
OMIM:608624 |
| Distal Duplication 5Q |
|
Hypoplasia of the ulna, Brachydactyly, Hypoplasia of the radius, Absent thumb |
ORPHA:96097 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Brachydactyly, Tapered finger |
OMIM:619680 |
| Trisomy 8P |
|
Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse palmar crease... |
ORPHA:264450 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Brachydactyly, Drumstick terminal phalanges |
OMIM:612938 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Brachydactyly, Alopecia, Abnormal distal phalanx morphology of finger, Micromelia, Aplastic clavi... |
ORPHA:2636 |
| Frontorhiny |
|
Finger clinodactyly, Widow's peak, Camptodactyly of finger, Brachydactyly |
ORPHA:391474 |
| Radio-Renal Syndrome |
|
Micromelia, Hypoplasia of the radius, Abnormality of the elbow, Short palm, Brachydactyly |
ORPHA:3015 |
| Adnp Syndrome |
|
Sparse scalp hair, Broad hallux, Single transverse palmar crease, Sandal gap, Abnormal toe morpho... |
ORPHA:404448 |
| Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patchy hypopigmentation of hair, Absent radius, Preaxial hand po... |
ORPHA:233 |
| Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Tarsal synostosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Abn... |
ORPHA:2473 |
| Macs Syndrome |
|
Alopecia, Single transverse palmar crease, Sparse eyebrow, Sparse hair, Brachydactyly |
OMIM:613075 |
| Kleefstra Syndrome 1 |
|
Talipes equinovarus, Synophrys, Single transverse palmar crease, Brachydactyly |
OMIM:610253 |
| Cleidocranial Dysplasia 1 |
|
Hypoplastic scapulae, Aplastic clavicle, Short middle phalanx of the 2nd finger, Hip dislocation,... |
OMIM:119600 |
| Weill-Marchesani Syndrome 4 |
|
Brachydactyly |
OMIM:613195 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Rectal abscess |
OMIM:600145 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Sparse scalp hair, Supernumerary nipple, Tapered finger, Sparse eyebrow, Short thumb, Synophrys, ... |
ORPHA:477993 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl... |
OMIM:210710 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Alopecia, Brachydactyly, Low posterior hairline, Short distal phalanx of finger |
ORPHA:2959 |
| Cardiofacioneurodevelopmental Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Camptodactyly |
OMIM:619123 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Brachydactyly |
OMIM:619995 |
| Infantile Systemic Hyalinosis |
|
Brachydactyly, Camptodactyly of finger, Micromelia, Short palm |
ORPHA:2176 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Mesomelia, Long eyelashes, Camptodactyly, Clinodactyly, Short phalanx of finger, Broa... |
OMIM:616894 |
| Myhre Syndrome |
|
Thick eyebrow, Overlapping toe, Short toe, 2-3 toe syndactyly, Fine hair, Cone-shaped epiphysis, ... |
OMIM:139210 |
| Carey-Fineman-Ziter Syndrome |
|
Brachydactyly, Aplasia of the pectoralis major muscle, Talipes equinovarus, Ulnar deviation of fi... |
ORPHA:1358 |
| Pycnodysostosis |
|
Narrow iliac wing, Osteolytic defects of the distal phalanges of the hand, Aplastic clavicle, Bra... |
OMIM:265800 |
| Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Short metatarsal, Broad palm, Elbow flexion contracture, Short finger, Broad ph... |
OMIM:608328 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Synophrys, Brachydactyly |
OMIM:620156 |
| You-Hoover-Fong Syndrome |
|
Clinodactyly, Brachydactyly |
OMIM:616954 |
| Acrocallosal Syndrome |
|
Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Tapered finger, Bifid distal pha... |
OMIM:200990 |
| Genitopalatocardiac Syndrome |
|
Postaxial hand polydactyly, Brachydactyly |
ORPHA:2075 |
| Carpenter Syndrome 2 |
|
Short digit, Single transverse palmar crease, Postaxial polydactyly, Highly arched eyebrow, Spars... |
OMIM:614976 |
| Chops Syndrome |
|
Curly hair, Thick hair, Synophrys, Coarse hair, Long eyelashes, Thick eyebrow, Brachydactyly |
OMIM:616368 |
| Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of hair, Overlapping toe, Small hand, Short foot, Bilateral talipes equinovarus,... |
ORPHA:177907 |
| Floating-Harbor Syndrome |
|
Brachydactyly, Ivory epiphyses of the distal phalanges of the hand, Short middle phalanx of the 2... |
OMIM:136140 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... |
OMIM:263520 |
| Cinca Syndrome |
|
Brachydactyly |
ORPHA:1451 |
| Trisomy 8Q |
|
Deep palmar crease, Camptodactyly of finger, Brachydactyly |
ORPHA:1752 |
| Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Brittle hair, Osteopathia striata, Short metatarsal, Foot oligodactyl... |
OMIM:305600 |
| White-Sutton Syndrome |
|
Sparse hair, Broad thumb, Brachydactyly |
OMIM:616364 |
| Weill-Marchesani Syndrome 1 |
|
Broad palm, Broad phalanges of the hand, Broad metacarpals, Broad metatarsal, Brachydactyly |
OMIM:277600 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Highly arched eyebrow, Broad 2nd toe, Palmoplantar hyperkeratosis, Fine hair, Large hands, Bilate... |
OMIM:280000 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Limited elbow extension and supination, Brachydactyly, Broad toe, Rhizomelia, Small hand, Mesomel... |
OMIM:180700 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Hypertrichosis, Short long bone, Brachydactyly |
OMIM:619479 |
| 15q26 overgrowth syndrome |
|
Long toe, Arachnodactyly, Camptodactyly of finger, Tapered finger, Abnormal toe morphology, Abnor... |
DECIPHER:81 |
| Orofaciodigital Syndrome I |
|
Syndactyly, Dry hair, Alopecia, Short 2nd toe, Polydactyly, Radial deviation of finger, Sparse ha... |
OMIM:311200 |
| Autosomal Dominant Robinow Syndrome |
|
Finger syndactyly, Alopecia, Camptodactyly of finger, Micromelia, Coxa valga, Elbow dislocation, ... |
ORPHA:3107 |
| Pseudohypoparathyroidism Type 1C |
|
Short metacarpal, Short fifth metatarsal, Short metatarsal, Short 3rd metacarpal, Broad distal ph... |
ORPHA:79444 |
| Craniofacioskeletal Syndrome |
|
Small hand, Short foot, Short palm, Clinodactyly of the 5th finger, Narrow iliac wing, Brachydactyly |
OMIM:300712 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Brachydactyly |
ORPHA:457193 |
| Basal Cell Nevus Syndrome 1 |
|
Down-sloping shoulders, Palmar pits, Irregular ossification of hand bones, Polydactyly, Short dis... |
OMIM:109400 |
| Distal Deletion 9P |
|
Brachydactyly |
ORPHA:1642 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Contracture of the proximal interphalangeal joint of the 4th finger, Absent fourth finger distal ... |
OMIM:618050 |
| Orthostatic Hypotension 1 |
|
Brachydactyly |
OMIM:223360 |
| Smith-Lemli-Opitz Syndrome |
|
Finger syndactyly, Hypopigmentation of hair, Rhizomelia, Proximal placement of thumb, Abnormal ey... |
ORPHA:818 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Aplastic clavicle, Abnormal metacarpal morphology, Abnormal finger morphology,... |
ORPHA:2658 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Syndactyly, Narrow joint spaces of the elbow, Clinodactyly of the 5th finger, Clinodactyly, Brach... |
ORPHA:96182 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Supernumerary nipple, Sparse eyebrow, Unilateral brachydactyly, Low posterior hairlin... |
ORPHA:1521 |
| Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Aplasia of the distal phalanx of the 5th toe, Synophrys, Aplasia of the distal phalanx of the 5th... |
ORPHA:364577 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Thick eyebrow, Single transverse palmar crease, Synophrys, Short palm, Prominent fingertip pads, ... |
ORPHA:466950 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Broad hallux, Single transverse palmar crease, Highly arched eyebrow, Synophrys, Clinodactyly of ... |
OMIM:617062 |
| Pseudohypoparathyroidism Type 1A |
|
Short metacarpal, Short fifth metatarsal, Broad 1st metacarpal, Short metatarsal, Short 3rd metac... |
ORPHA:79443 |
| Hajdu-Cheney Syndrome |
|
Bowing of the long bones, Coarse metaphyseal trabecularization, Brachydactyly, Short toe, Synophr... |
ORPHA:955 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Proportionate shortening of all digits, Tapered finger, Synophrys, Small hand, Short foot, Fair h... |
ORPHA:280633 |
| Barber-Say Syndrome |
|
Absent nipple, Sparse eyelashes, Sparse eyebrow, Low anterior hairline, Hypertrichosis, Talipes e... |
OMIM:209885 |
| Myhre Syndrome |
|
Brachydactyly, Abnormal epiphysis morphology, Short palm, Large iliac wing, Abnormal metaphysis m... |
ORPHA:2588 |
| Down Syndrome |
|
Sandal gap, Single transverse palmar crease, Hypoplastic iliac wing, Broad palm, Short palm, Shor... |
OMIM:190685 |
| Raine Syndrome |
|
Bowing of the long bones, Highly arched eyebrow, Micromelia, Long hallux, Brachydactyly |
OMIM:259775 |
| Mgat2-Cdg |
|
Long eyelashes, Hypoplastic nipples, Hirsutism, Brachydactyly |
ORPHA:79329 |
| Ayme-Gripp Syndrome |
|
Sparse scalp hair, Tapered finger, Radioulnar synostosis, Nail dystrophy, Camptodactyly, Broad ey... |
OMIM:601088 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Sparse eyelashes, Camptodactyly of finger, Sparse eyebrow, Widow's peak, Finger clinodactyly, Pec... |
ORPHA:306542 |
| Developmental And Epileptic Encephalopathy 100 |
|
Single transverse palmar crease, Bilateral camptodactyly, Synophrys, Elbow flexion contracture, S... |
OMIM:619777 |
| Arboleda-Tham Syndrome |
|
Brachydactyly, Sandal gap, Deviation of the hallux, Short hallux, Highly arched eyebrow, 3-4 fing... |
OMIM:616268 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Rhizomelic arm shortening, Short metacarpal, Short humerus, Brachydactyly |
ORPHA:508542 |
| Cranioectodermal Dysplasia 2 |
|
Syndactyly, Rhizomelia, Sparse eyelashes, Sparse eyebrow, Postaxial hand polydactyly, Polydactyly... |
OMIM:613610 |
| Maternal Phenylketonuria |
|
Clinodactyly, Brachydactyly, Bifid distal phalanx of the thumb |
ORPHA:2209 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Overlapping toe, Tapered finger, Small hand, Low posterior hairline, Short foot, Camptodactyly, C... |
OMIM:309590 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Clinodactyly of the 5th finger, Talipes equinovarus, Brachydactyly |
ORPHA:847 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Brachydactyly, Mesoaxial foot polydactyly, Overlapping toe, Broad hallux, Single transverse palma... |
OMIM:612474 |
| Meester-Loeys Syndrome |
|
Arachnodactyly, Hypertrichosis, Broad distal phalanx of finger, Camptodactyly, Brachydactyly |
OMIM:300989 |
| Robinow Syndrome |
|
Syndactyly, Brachydactyly, Bifid distal phalanx of the thumb, Mesomelic arm shortening, Radioulna... |
ORPHA:97360 |
| Noonan Syndrome |
|
Abnormal hair quantity, Low posterior hairline, Radioulnar synostosis, Coarse hair, Clinodactyly ... |
ORPHA:648 |
| Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Highly arched eyebrow, Short toe, Widow's peak, Clinodactyly of the 5th finger... |
ORPHA:1519 |
| Monosomy 13Q14 |
|
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly |
ORPHA:1587 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Curly hair, Thick hair, Highly arched eyebrow, Synophrys, Small hand, Fibular hypoplasia, Hypopla... |
ORPHA:444077 |
| Toriello-Lacassie-Droste Syndrome |
|
Brachydactyly, Short palm |
ORPHA:3339 |
| Witteveen-Kolk Syndrome |
|
Medial flaring of the eyebrow, Toe syndactyly, Overlapping toe, Arachnodactyly, Proximal placemen... |
OMIM:613406 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Synophrys, Brachydactyly, Single transverse palmar crease, Short palm |
ORPHA:466943 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Postaxial polydactyly, Postaxial hand polydactyly, Cone-shaped epiphysis, Short long bone, Short ... |
OMIM:617088 |
| Jacobsen Syndrome |
|
Clinodactyly of the 5th finger, Abnormal eyelash morphology, Brachydactyly |
OMIM:147791 |
| Pallister-Hall Syndrome |
|
Mesoaxial polydactyly, Broad toe, Toe syndactyly, Overlapping toe, Radial bowing, Postaxial hand ... |
ORPHA:672 |
| Holoprosencephaly |
|
Highly arched eyebrow, Synophrys, Hand polydactyly, Thick eyebrow, Brachydactyly |
ORPHA:2162 |
| Pgm3-Cdg |
|
Brachydactyly |
ORPHA:443811 |
| Toriello-Carey Syndrome |
|
Sparse eyebrow, Clinodactyly, Brachydactyly |
ORPHA:3338 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short metacarpal, Short metatarsal, Sparse hair, Cubitus valgus, Frontal hirsutism, Short distal ... |
OMIM:617157 |
| Roberts-Sc Phocomelia Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:268300 |
| Peters-Plus Syndrome |
|
Facial hypertrichosis, Syndactyly, Short metacarpal, Rhizomelia, Single transverse palmar crease,... |
OMIM:261540 |
| Adams-Oliver Syndrome 1 |
|
Alopecia, Toe syndactyly, Supernumerary nipple, Talipes equinovarus, Brachydactyly |
OMIM:100300 |
| Floating-Harbor Syndrome |
|
Short metacarpal, Brachydactyly, Avascular necrosis of the capital femoral epiphysis, Short thumb... |
ORPHA:2044 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Brachydactyly |
ORPHA:168577 |
| Loeys-Dietz Syndrome 2 |
|
Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Absent distal phalanges, ... |
OMIM:610168 |
| 1P36 Deletion Syndrome |
|
Abnormal eyebrow morphology, Camptodactyly of finger, Short foot, Hip dysplasia, Foot polydactyly... |
ORPHA:1606 |
| Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... |
OMIM:607932 |
| Genitopatellar Syndrome |
|
Hip contracture, Sparse scalp hair, Congenital hip dislocation, Patellar aplasia, Inferior pubic ... |
OMIM:606170 |
| Cardiospondylocarpofacial Syndrome |
|
Tarsal synostosis, Cone-shaped epiphysis, Short foot, Pseudoepiphyses, Carpal synostosis, Brachyd... |
OMIM:157800 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Camptodactyly of finger, Metatarsus adductus, Synophrys, Short foot, Hip dysplasia, Short 5th fin... |
OMIM:607872 |
| Noonan Syndrome 1 |
|
Woolly hair, Low posterior hairline, Radial deviation of finger, Cubitus valgus, Clinodactyly, Br... |
OMIM:163950 |
| Elsahy-Waters Syndrome |
|
Synophrys, Shortening of all phalanges of fingers, Cutaneous finger syndactyly, Thick eyebrow, Br... |
OMIM:211380 |
| Charge Syndrome |
|
Highly arched eyebrow, Abnormal tibia morphology, Bifid femur, Clinodactyly of the 5th finger, Br... |
ORPHA:138 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Tapered finger, Genu valgum, Talipes equinovarus, Radial deviation of finger, Clinodactyly, Slend... |
OMIM:309580 |
| Peters Plus Syndrome |
|
Toe syndactyly, Rhizomelia, Micromelia, Short toe, Short foot, Clinodactyly of the 5th finger, Br... |
ORPHA:709 |
| Cowden Syndrome |
|
Palmoplantar keratoderma, Brachydactyly |
ORPHA:201 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Brachydactyly |
ORPHA:293987 |
