| Sugarman Brachydactyly |
|
Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... |
OMIM:272150 |
| Brachydactyly, Type A3 |
|
Rhomboid or triangular shaped 5th finger middle phalanx, Type A brachydactyly, Cone-shaped epiphy... |
OMIM:112700 |
| Brachydactyly, Type D |
|
Broad distal phalanx of the thumb, Type D brachydactyly, Broad distal phalanx of the hallux |
OMIM:113200 |
| Familial Digital Arthropathy-Brachydactyly |
|
Osteoarthritis of the small joints of the hand, Short middle phalanx of finger, Shortening of all... |
ORPHA:85169 |
| Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay |
|
Type A1 brachydactyly |
OMIM:188201 |
| Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... |
OMIM:113100 |
| Long-Thumb Brachydactyly Syndrome |
|
Short finger, Long thumb, Brachydactyly |
OMIM:112430 |
| Digital Arthropathy-Brachydactyly, Familial |
|
Short middle phalanx of finger, Short distal phalanx of toe, Short distal phalanx of finger, Radi... |
OMIM:606835 |
| Brachydactyly, Type A1, C |
|
Short middle phalanx of the 2nd finger, Bilateral talipes equinovarus, Short distal phalanx of fi... |
OMIM:615072 |
| Cleidorhizomelic Syndrome |
|
Rhizomelia, Bilateral single transverse palmar creases, Short middle phalanx of the 5th finger, C... |
ORPHA:1453 |
| Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Postaxial hand polydactyly, Brachydactyly, Short 2nd toe, Short thumb |
OMIM:176305 |
| Triphalangeal Thumbs With Brachyectrodactyly |
|
Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Brachydactyly, Short 2nd finger |
OMIM:190680 |
| Brachydactyly, Type A1, B |
|
Short middle phalanx of finger, Broad distal hallux, Type A brachydactyly, Short 5th metacarpal, ... |
OMIM:607004 |
| Brachydactyly, Type A1 |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Broad metacarpal epiphyses, Short proxima... |
OMIM:112500 |
| Brachydactyly, Type A4 |
|
Aplasia of the middle phalanges of the toes, Short middle phalanx of the 2nd finger, Type A brach... |
OMIM:112800 |
| Brachydactyly Type A2 |
|
Type A2 brachydactyly, Short middle phalanx of finger, Clinodactyly of the 5th finger, Aplasia/Hy... |
ORPHA:93396 |
| Thiemann Disease, Familial Form |
|
Abnormality of the metaphysis, Brachydactyly, Abnormality of epiphysis morphology |
ORPHA:3314 |
| Liebenberg Syndrome |
|
2-3 finger syndactyly, Joint contracture of the 5th finger, Abnormality of the carpal bones, Meta... |
OMIM:186550 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Abnormality of the distal phalanges of the toes, Small hypothenar eminence, Small thenar eminence... |
ORPHA:3246 |
| Ectrodactyly-Polydactyly Syndrome |
|
Camptodactyly of finger, Postaxial hand polydactyly, Finger syndactyly, Symphalangism affecting t... |
ORPHA:1892 |
| Brachydactyly, Type A2, With Microcephaly |
|
Clinodactyly of the 2nd toe, Type A2 brachydactyly, Thumbs hypoplastic with bulbous tips, Absent ... |
OMIM:211369 |
| Brachydactyly-Syndactyly Syndrome |
|
Oligodactyly, Short phalanx of finger, Finger syndactyly, Camptodactyly, Syndactyly, Short digit,... |
OMIM:610713 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Type A brachydactyly, Abnormal thumb morphology, Abnormality of the metacarpal bones |
ORPHA:1078 |
| Syndactyly, Type V |
|
3-4 toe syndactyly, 4-5 toe syndactyly, Camptodactyly of finger, Fused fourth and fifth metacarpa... |
OMIM:186300 |
| Banki Syndrome |
|
Abnormality of the metacarpal bones, Clinodactyly of the 5th finger, Brachydactyly, Synostosis of... |
ORPHA:1228 |
| Spondylometaphyseal Dysplasia, East African Type |
|
Metaphyseal widening, Short long bone, Coxa vara, Genu varum, Rounded epiphyses, Brachydactyly, M... |
OMIM:611702 |
| Brachydactyly, Combined B And E Types |
|
Broad distal phalanx of finger, Short fifth metatarsal, Short 4th metacarpal, Broad thumb, Short ... |
OMIM:112440 |
| Heart-Hand Syndrome, Spanish Type |
|
Short middle phalanx of finger, Brachydactyly, Ulnar deviation of the 2nd finger |
OMIM:140450 |
| Gombo Syndrome |
|
Clinodactyly, Brachydactyly, Radial deviation of finger |
OMIM:233270 |
| Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Postaxial hand polydactyly, Broad palm, Rhizomelia, Mesomelia, Short metacarpal, Short foot, Brac... |
OMIM:611263 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Polydactyly, Brachydactyly |
OMIM:617405 |
| Coloboma Of Macula With Type B Brachydactyly |
|
Broad distal phalanx of the thumb, Bifid distal phalanx of the thumb, Type B brachydactyly, Absen... |
OMIM:120400 |
| Exostoses With Anetodermia And Brachydactyly, Type E |
|
Type E brachydactyly |
OMIM:133690 |
| Cooks Syndrome |
|
Broad thumb, Split hand, Dystrophic toenail, Dystrophic fingernails, Triphalangeal thumb, Brachyd... |
ORPHA:1487 |
| Brachydactyly Type B2 |
|
Short toe, Finger syndactyly, Synostosis of carpal bones, Short distal phalanx of toe, Symphalang... |
ORPHA:140908 |
| Arthrogryposis, Distal, Type 2B2 |
|
Overlapping fingers, Camptodactyly, Adducted thumb, Sandal gap, Ulnar deviation of the wrist, Bra... |
OMIM:618435 |
| Brachydactyly Type C |
|
Type C brachydactyly, Stippling of the epiphysis of the distal phalanx of the thumb, Short metata... |
ORPHA:93384 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Oligodactyly, Split hand, Talipes equinovarus, Brachydactyly, Ectrodactyly |
OMIM:612576 |
| Multiple Synostoses Syndrome |
|
Broad thumb, Cone-shaped epiphysis, Bilateral single transverse palmar creases, Symphalangism aff... |
ORPHA:3237 |
| Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Camptodactyly of finger, Broad thumb, Type B brachydactyly, Short distal phalanx of finger |
ORPHA:1471 |
| Brachydactyly Type B |
|
Synostosis of carpal bones, 2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad ha... |
ORPHA:93383 |
| Tarsal-Carpal Coalition Syndrome |
|
Cubitus valgus, Humeroradial synostosis, Tarsal synostosis, Distal symphalangism of hands, Short ... |
OMIM:186570 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Short hallux, Overlapping fingers, Postaxial polydactyly, Adducted thumb, Short distal phalanx of... |
OMIM:618167 |
| Craniosynostosis 3 |
|
Low anterior hairline, Brachydactyly, Hallux valgus, Single transverse palmar crease |
OMIM:615314 |
| Heart-Hand Syndrome, Slovenian Type |
|
Clinodactyly, Syndactyly, Brachydactyly, Aplasia of the middle phalanx of the hand |
OMIM:610140 |
| Santos Syndrome |
|
Oligodactyly, Genu valgum, Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Metatarsus a... |
OMIM:613005 |
| Hypertension And Brachydactyly Syndrome |
|
Brachydactyly, Cone-shaped epiphysis, Short phalanx of finger, Short metacarpal |
OMIM:112410 |
| Symphalangism, Distal |
|
Brachydactyly, Absent dorsal skin creases over affected joints, Distal foot symphalangism, Distal... |
OMIM:185700 |
| Hirschsprung Disease With Type D Brachydactyly |
|
Type D brachydactyly, Short thumb |
OMIM:306980 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Synostosis of carpal bones, Elbow dislocation, Aplasia/Hypoplasia of the radius, Abnormality of t... |
ORPHA:1275 |
| Brachydactyly-Distal Symphalangism Syndrome |
|
Camptodactyly of finger, Distal symphalangism of hands, Short 1st metacarpal, Aplasia of the midd... |
OMIM:113450 |
| Brachydactyly, Type A2 |
|
Medially deviated second toe, Triangular shaped middle phalanx of the 5th finger, Short hallux, T... |
OMIM:112600 |
| Epiphyseal Dysplasia, Multiple, 4 |
|
Hip dysplasia, Limited elbow flexion, Epiphyseal dysplasia, Short metacarpal, Talipes equinovarus... |
OMIM:226900 |
| Brachydactyly-Arterial Hypertension Syndrome |
|
Brachydactyly, Short phalanx of finger, Short metacarpal |
ORPHA:1276 |
| Heart-Hand Syndrome Type 3 |
|
Short middle phalanx of finger, Short toe, Brachydactyly, Abnormality of the metacarpal bones |
ORPHA:1342 |
| Chromosome 15Q13.3 Deletion Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Synophrys |
OMIM:612001 |
| Emery-Nelson Syndrome |
|
Camptodactyly of finger, Abnormal thumb morphology, Contractures of the interphalangeal joint of ... |
ORPHA:1927 |
| Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Type E brachydactyly |
ORPHA:1962 |
| Peripheral Dysostosis |
|
Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:1795 |
| Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome |
|
Brachydactyly, Short thumb |
ORPHA:435804 |
| Hypochondroplasia |
|
Limited elbow extension, Short long bone, Flared metaphysis, Genu varum, Brachydactyly, Abnormali... |
OMIM:146000 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Fibular aplasia, Brachydac... |
OMIM:113310 |
| 2q37 monosomy |
|
Brachydactyly |
DECIPHER:44 |
| Anauxetic Dysplasia 1 |
|
Delayed ossification of carpal bones, Hypoplastic ilia, Short finger, Rhizomelia, Flared metaphys... |
OMIM:607095 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Metaphyseal sclerosis, Metaphyseal irregularity, Osteoporotic metatarsal, Osteoporotic tarsals, B... |
OMIM:609052 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Deformed humeral heads, Short metatarsal, Rhizomelia, Short humerus, Coxa vara, Short metacarpal,... |
OMIM:601438 |
| Proximal Symphalangism |
|
Camptodactyly of finger, Tarsal synostosis, Finger syndactyly, Synostosis of carpal bones, Elbow ... |
ORPHA:3250 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Short finger, Short 5th metacarpal, Short toe, Clinodactyly of the 5th finger, Brachydactyly |
OMIM:604381 |
| Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Decreased finger mobility, Tarsal s... |
OMIM:112910 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormality of tibia morphology, Abnormal thumb morphology, Tarsal synostosis, Abnormality of epi... |
ORPHA:2639 |
| Anonychia-Onychodystrophy With Brachydactyly Type B And Ectrodactyly |
|
Short metatarsal, Split hand, Aplasia/Hypoplasia of the distal phalanges of the hand, Type B brac... |
OMIM:106990 |
| Tetrasomy X |
|
Hip dysplasia, Clinodactyly of the 5th finger, Brachydactyly, Radioulnar synostosis |
ORPHA:9 |
| Heart-Hand Syndrome Type 2 |
|
Short 4th metacarpal, Hand polydactyly, Hemiatrophy, Abnormality of the elbow, Short 5th metacarp... |
ORPHA:1350 |
| Feingold Syndrome Type 2 |
|
Short middle phalanx of finger, Brachydactyly, Toe syndactyly, Short thumb |
ORPHA:391646 |
| Deafness, Congenital, With Onychodystrophy, Autosomal Dominant |
|
Triphalangeal thumb, Toe syndactyly, Nail dystrophy, Brachydactyly |
OMIM:124480 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Postaxial oligodactyly, Aplasia/Hypoplasia of the fibula, Short foot, Talipes equinovarus, Brachy... |
ORPHA:52056 |
| Multiple Metaphyseal Dysplasia |
|
Broad distal phalanx of finger, Abnormality of tibia morphology, Abnormality of epiphysis morphol... |
ORPHA:93430 |
| Bardet-Biedl Syndrome 5 |
|
Polydactyly, Syndactyly, Brachydactyly |
OMIM:615983 |
| Hirschsprung Disease-Type D Brachydactyly Syndrome |
|
Short phalanx of hallux, Short distal phalanx of the thumb, Brachydactyly |
ORPHA:2150 |
| Chromosome 20Q11-Q12 Deletion Syndrome |
|
Finger clinodactyly, Tarsal osteovalgus, Camptodactyly, Adducted thumb, Brachydactyly |
OMIM:614257 |
| Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly |
OMIM:619248 |
| Camptobrachydactyly |
|
Camptodactyly of finger, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Ulna... |
ORPHA:1319 |
| Acromesomelic Dysplasia, Grebe Type |
|
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... |
ORPHA:2098 |
| Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Radial club hand, Preaxial hand polydactyly, Short metatarsal, Broad thumb, Synophrys, Thick eyeb... |
ORPHA:1278 |
| Pseudopseudohypoparathyroidism |
|
Short 4th metacarpal, Short metatarsal, Short 5th metacarpal, Short distal phalanx of the thumb, ... |
ORPHA:79445 |
| Brachydactyly Type E |
|
Aplasia/Hypoplasia of the distal phalanx of the hallux, Type E brachydactyly, Short metatarsal, U... |
ORPHA:93387 |
| Metaphyseal Acroscyphodysplasia |
|
Abnormality of femur morphology, Bowing of the long bones, Cone-shaped epiphysis, Abnormal diaphy... |
ORPHA:1240 |
| Weyers Acrofacial Dysostosis |
|
Postaxial hand polydactyly, Postaxial foot polydactyly, Clinodactyly of the 5th finger, Brachydac... |
OMIM:193530 |
| Spondyloperipheral Dysplasia |
|
Broad thumb, Short metatarsal, Short distal phalanx of the 2nd finger, Short distal phalanx of fi... |
OMIM:271700 |
| Bardet-Biedl Syndrome 18 |
|
Brachydactyly |
OMIM:615995 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short 3rd metacarpal, Short toe, Broad thumb, Short 5th metacarpal, 3-4 finger cutaneous syndacty... |
ORPHA:370010 |
| Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly |
|
Short proximal phalanx of finger, Short toe, Short finger, Short metacarpal, Pili canaliculi, Unc... |
OMIM:191482 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Tarsal synostosis, Elbow dislocation, Abnormally shaped carpal bones, Bilateral single transverse... |
ORPHA:968 |
| Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal shoulder morphology, Brachydactyly, Mesomelia |
ORPHA:1277 |
| Camptobrachydactyly |
|
Hand polydactyly, Congenital finger flexion contractures, Syndactyly, Short toe, Brachydactyly |
OMIM:114150 |
| Acrocapitofemoral Dysplasia |
|
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... |
OMIM:607778 |
| Brachydactyly-Nystagmus-Cerebellar Ataxia |
|
Brachydactyly, Short metatarsal, Short metacarpal |
OMIM:113400 |
| Smith-Magenis syndrome |
|
Brachydactyly |
DECIPHER:8 |
| Eng-Strom Syndrome |
|
Camptodactyly of finger, Brachydactyly |
ORPHA:1937 |
| Pseudoachondroplasia |
|
Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Flat acetabular roof, ... |
ORPHA:750 |
| Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Short finger, Syndactyly, Split foot, Hypoplasia of the ulna |
OMIM:314360 |
| Hypochondroplasia |
|
Short toe, Abnormality of the elbow, Bowing of the long bones, Genu varum, Abnormality of femur m... |
ORPHA:429 |
| Isolated Brachycephaly |
|
Metacarpal synostosis, Brachydactyly |
ORPHA:35099 |
| Brachydactyly, Type E2 |
|
Brachydactyly, Short metatarsal, Short metacarpal |
OMIM:613382 |
| 20Q11.2 Microdeletion Syndrome |
|
Camptodactyly, Adducted thumb, Brachydactyly, Finger clinodactyly |
ORPHA:444051 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Brachydactyly, Short distal phalanx of finger |
ORPHA:2787 |
| Acromesomelic Dysplasia, Demirhan Type |
|
Aplasia of the proximal phalanges of the hand, Tarsal synostosis, Short phalanx of finger, Short ... |
OMIM:609441 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Short distal phalanx of toe, Short 1st metacarpal, Single transverse palmar crease, Short distal ... |
OMIM:601957 |
| Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Type E brachydactyly, Short 4th metacarpal, Short metatarsal |
OMIM:113301 |
| Orofaciodigital Syndrome Xviii |
|
Genu valgum, Short middle phalanx of finger, Preaxial polydactyly, Postaxial polydactyly, Short d... |
OMIM:617927 |
| Du Pan Syndrome |
|
Fibular aplasia, Short metatarsal, Short phalanx of finger, Rhizomelia, Fibular hypoplasia, Absen... |
OMIM:228900 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... |
ORPHA:3329 |
| Multiple Synostoses Syndrome 2 |
|
Humeroradial synostosis, Tarsal synostosis, Finger symphalangism, Carpal synostosis, Talipes equi... |
OMIM:610017 |
| Mal De Meleda |
|
Congenital symmetrical palmoplantar keratosis, Brachydactyly |
OMIM:248300 |
| Acromicric Dysplasia |
|
Abnormal eyebrow morphology, Abnormality of femur morphology, Abnormality of epiphysis morphology... |
ORPHA:969 |
| Léri-Weill Dyschondrosteosis |
|
Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Elbow disloc... |
ORPHA:240 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Hip dysplasia, Abnormality of the metacarpal bones, Abnormality of the metaphysis, Abnormality of... |
ORPHA:2370 |
| Achondroplasia |
|
Limited elbow extension, Trident hand, Rhizomelia, Bowing of the legs, Flared metaphysis, Genu va... |
OMIM:100800 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Mesomelic arm shortening, Distal ulnar epiphyseal stippling, Broad toe, Delayed ossification of c... |
OMIM:609616 |
| Short Stature-Obesity Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Limb undergrowth, Micromelia |
OMIM:269870 |
| Tetralogy Of Fallot |
|
Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:3303 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Delayed ossification of carpal bones, Brachydactyly |
OMIM:618392 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Sparse hair, Short 5th metacarpal, Uncombable hair, Brachydactyly, Abnormality of the hand |
ORPHA:1264 |
| Brachydactyly, Type E1 |
|
Type E brachydactyly, Short metatarsal, Short clavicles, Short metacarpal, Brachydactyly |
OMIM:113300 |
| Keipert Syndrome |
|
Broad distal phalanx of finger, Broad thumb, Clinodactyly, Broad hallux, Brachydactyly |
OMIM:301026 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Short digit, Short 5th metacarpal, Abnormal hand morphology |
ORPHA:228190 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Lower limb undergrowth, Hirsutism, Bowing of the legs, Brachydactyly |
OMIM:612847 |
| Charlie M Syndrome |
|
Finger syndactyly, Split hand, Abnormality of the metacarpal bones, Triphalangeal thumb, Brachyda... |
ORPHA:1406 |
| Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures |
|
High anterior hairline, Sparse lateral eyebrow, Brachydactyly |
OMIM:618879 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
2-3 toe syndactyly, Synophrys, Clinodactyly, Thick eyebrow, Brachydactyly, Tapered finger |
OMIM:617061 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Ulnar deviation of finger, Abnormality of pelvic girdle bone morphology,... |
ORPHA:2928 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hip dysplasia, Type E brachydactyly, Limited elbow extension, Delayed pubic bone ossification, Ab... |
ORPHA:1856 |
| Acrodysplasia Scoliosis |
|
Brachydactyly |
ORPHA:2956 |
| Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Rhizomelia, Irregular epip... |
OMIM:601560 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Osteoarthritis of the elbow, Protrusio acetabuli, Abnormal femoral head morphology, Abnormality o... |
ORPHA:2619 |
| Metaphyseal Acroscyphodysplasia |
|
Irregular phalanges, Short phalanx of finger, Micromelia, Short finger, Metaphyseal cupping, Shor... |
OMIM:250215 |
| Multiple Synostoses Syndrome 4 |
|
Brachydactyly, Tarsal synostosis, Overlapping toe |
OMIM:617898 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Cubitus valgus, Broad thumb, Short phalanx of finger, Short metatarsal, Enlarged interphalangeal ... |
OMIM:151200 |
| Sillence Syndrome |
|
Large iliac wing, Broad thumb, Abnormal proximal phalanx morphology of the hand, Abnormal morphol... |
ORPHA:3168 |
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Genu valgum, Short phalanx of finger, Epiphyseal dysplasia, Brachydactyly, Coxa valga |
OMIM:132450 |
| Metatropic Dysplasia |
|
Long coccyx, Flared femoral metaphysis, Abnormal metaphyseal vascular invasion, Short finger, Dum... |
OMIM:156530 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Clinodactyly, Syndactyly, Brachydactyly |
OMIM:610023 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Hip dysplasia, Genu valgum, Abnormalities of the metaphyses of the hand, Abnormal hip joint morph... |
ORPHA:166011 |
| Muenke Syndrome |
|
Low anterior hairline, Broad thumb, Short middle phalanx of finger, Capitate-hamate fusion, Thimb... |
OMIM:602849 |
| Jeune Syndrome |
|
Postaxial hand polydactyly, Toe syndactyly, Cone-shaped epiphysis, Postaxial foot polydactyly, Sh... |
ORPHA:474 |
| Anauxetic Dysplasia 2 |
|
Cubitus valgus, Hypoplasia of the femoral head, Sparse hair, Metaphyseal dysplasia, Coxa vara, Hy... |
OMIM:617396 |
| Terminal Osseous Dysplasia |
|
Mesomelic arm shortening, Camptodactyly of finger, Abnormal hand bone ossification, Camptodactyly... |
OMIM:300244 |
| Multiple Synostoses Syndrome 1 |
|
Fusion of midphalangeal joints, Tarsal synostosis, Lower limb undergrowth, Short lower limbs, Abs... |
OMIM:186500 |
| Chondrodysplasia, Grebe Type |
|
Hypoplasia of the radius, Short femur, Postaxial hand polydactyly, Short phalanx of finger, Hypop... |
OMIM:200700 |
| Camptodactyly Syndrome, Guadalajara, Type Ii |
|
Camptodactyly of finger, Short 3rd toe, Talipes equinovarus, Short middle phalanx of finger, Shor... |
OMIM:211920 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Genu valgum, Deformed humeral heads, Rhizomelia, Short humerus, Coxa vara, Short metacarpal, Brac... |
ORPHA:2831 |
| Brachydactyly, Type B1 |
|
Broad thumb, Short middle phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the ha... |
OMIM:113000 |
| Summitt Syndrome |
|
Genu valgum, Short 4th metacarpal, Camptodactyly of finger, Finger syndactyly, Clinodactyly of th... |
ORPHA:3210 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Coxa magna, Short metatarsal, Short phalanx of finger, Sparse hair, Short finger, Short metacarpa... |
OMIM:190351 |
| Heart-Hand Syndrome, Slovenian Type |
|
Brachydactyly |
ORPHA:168796 |
| Bardet-Biedl Syndrome 4 |
|
Polydactyly, Syndactyly, Brachydactyly |
OMIM:615982 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Small hand, Brachydactyly, Cone-shaped epiphysis, Delayed epiphyseal ossification |
OMIM:618618 |
| Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Hip dysplasia, Horizontal eyebrow, Long eyelashes, Synophrys, Thick eyebrow, Hypertrichosis, Clin... |
OMIM:618381 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Highly arched eyebrow, Tarsal synostosis, Short metatarsal, Radioulnar synostosis, Hitchhiker thu... |
OMIM:605282 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Short metatarsal, Ulnar deviation of the hand, Acetabular dysplasia, Short thumb, Short femoral n... |
ORPHA:93307 |
| Specific Granule Deficiency 2 |
|
Hirsutism, Brachydactyly, Sandal gap |
OMIM:617475 |
| Craniofacial Dysostosis With Diaphyseal Hyperplasia |
|
Massively thickened long bone cortices, Brachydactyly, Limb undergrowth, Micromelia |
OMIM:122900 |
| Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome |
|
Brachytelomesophalangy, Short distal phalanx of finger |
ORPHA:1547 |
| Pseudoachondroplasia |
|
Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Carpal bone hypoplasia... |
OMIM:177170 |
| Carpenter Syndrome |
|
Genu valgum, Postaxial hand polydactyly, Broad thumb, Toe syndactyly, Finger syndactyly, Polydact... |
ORPHA:65759 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Genu valgum, Short toe, Short foot, Short metacarpal, Brachydactyly |
OMIM:614078 |
| Cornelia De Lange Syndrome 2 |
|
Highly arched eyebrow, Low anterior hairline, Hirsutism, Long eyelashes, Synophrys, Thick eyebrow... |
OMIM:300590 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Metaphyseal irregularity, Hypoplastic inferior ilia, Rhizomelia, Short finger, Metaphyseal cuppin... |
OMIM:608940 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metatarsal, Short phalanx of finger, Postaxial polydactyly, Limb undergrowth, Short distal ... |
OMIM:617102 |
| Rhizomelic Syndrome, Urbach Type |
|
Preaxial hand polydactyly, Abnormal hair quantity, Abnormality of epiphysis morphology, Rhizomeli... |
ORPHA:3098 |
| Leri Pleonosteosis |
|
Cubitus valgus, Camptodactyly of finger, Broad thumb, Abnormality of finger, Elbow dislocation, A... |
ORPHA:2900 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Hip dysplasia, Brachydactyly, Hypoplastic iliac wing, Short distal phalanx of finger |
ORPHA:1858 |
| Intellectual Developmental Disorder, Autosomal Dominant 59 |
|
Highly arched eyebrow, Brachydactyly, Short palm, Short foot |
OMIM:618522 |
| Phenobarbital Embryopathy |
|
Aplasia/Hypoplasia of fingers, Brachydactyly |
ORPHA:1919 |
| Desbuquois Dysplasia 1 |
|
Short metatarsal, Phalangeal dislocation, Broad first metatarsal, Sandal gap, Flat acetabular roo... |
OMIM:251450 |
| Ulnar/Fibular Ray Defect And Brachydactyly |
|
Toe syndactyly, Postaxial oligodactyly, Fibular hypoplasia, Bilateral talipes equinovarus, Brachy... |
OMIM:608571 |
| Aminopterin Syndrome Sine Aminopterin |
|
Highly arched eyebrow, Rudimentary postaxial polydactyly of hands, Clinodactyly, Syndactyly, Shor... |
OMIM:600325 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Short hallux, Tarsal synostosis, Complete duplication of proximal phalanx of the thumb, Partial d... |
ORPHA:363417 |
| Mesomelia-Synostoses Syndrome |
|
Genu valgum, Abnormality of tibia morphology, Abnormal eyebrow morphology, Abnormality of femur m... |
ORPHA:2496 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Short phalanx of finger, Widow's peak, Clinodactyly, Thick eyebrow, Small hand, Broad finger, Bra... |
OMIM:614684 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Acromesomelia, Bowing of the long bones, Brachydactyly |
ORPHA:40 |
| Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Broad hallux, Brachydactyly, Short thumb |
OMIM:165800 |
| Waardenburg Syndrome, Type 3 |
|
Camptodactyly of finger, Scapular winging, Premature graying of hair, Synophrys, Carpal synostosi... |
OMIM:148820 |
| Hand-Foot-Genital Syndrome |
|
Short hallux, Small thenar eminence, Hallux varus, Delayed ossification of carpal bones, Short 1s... |
OMIM:140000 |
| Alopecia-Intellectual Disability Syndrome |
|
Split hand, Sparse scalp hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Bra... |
ORPHA:2850 |
| Microcephaly, Short Stature, And Limb Abnormalities |
|
Dislocated radial head, Hypoplasia of the radius, Radioulnar synostosis, Mesomelia, Patellar apla... |
OMIM:617604 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Large iliac wing, Abnormal thumb morphology, Abnormality of finger, Cone-shaped epiphysis, Bilate... |
ORPHA:2511 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Brachydactyly, Broad thumb, Sparse hair, Alopecia |
OMIM:617763 |
| Orofaciodigital Syndrome Vi |
|
Preaxial hand polydactyly, Toe syndactyly, Central Y-shaped metacarpal, Preaxial foot polydactyly... |
OMIM:277170 |
| Nicolaides-Baraitser Syndrome |
|
Highly arched eyebrow, Broad distal phalanx of finger, Sparse hair, Abnormality of finger, Abnorm... |
ORPHA:3051 |
| Satoyoshi Syndrome |
|
Genu valgum, Short metatarsal, Alopecia universalis, Alopecia, Short metacarpal, Brachydactyly, O... |
OMIM:600705 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Genu valgum, Delayed pubic bone ossification, Club-shaped proximal femur, Metaphyseal irregularit... |
OMIM:184250 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Preaxial polydactyly, Postaxial polydactyly, Hypoplastic ischia, Syndactyly, Brachydactyly, Micro... |
OMIM:617866 |
| Cranioectodermal Dysplasia |
|
Sparse hair, Finger syndactyly, Rhizomelia, Short distal phalanx of finger, Abnormal diaphysis mo... |
ORPHA:1515 |
| Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Abnormality of the metaphysis, Abnormal diaphysis morphology, Dystrophic toena... |
ORPHA:1657 |
| Acrocephalopolydactyly |
|
Short long bone, Brachydactyly, Limb undergrowth |
ORPHA:221054 |
| Craniofrontonasal Dysplasia |
|
Camptodactyly of finger, Hand polydactyly, Finger syndactyly, Widow's peak, Broad hallux phalanx,... |
ORPHA:1520 |
| Pelviscapular Dysplasia |
|
Humeroradial synostosis, Short femur, Congenital hip dislocation, Hypoplastic scapulae, Hypoplast... |
ORPHA:93333 |
| Odontochondrodysplasia 1 |
|
Short phalanx of finger, Flared iliac wing, Delayed ossification of carpal bones, Irregular epiph... |
OMIM:184260 |
| Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness |
|
Metaphyseal widening, Genu valgum, Metaphyseal irregularity, Broad palm, Broad phalanx, Carpal bo... |
OMIM:250420 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Short middle phalanx of finger, Brachydactyly |
ORPHA:1436 |
| Potocki-Shaffer Syndrome |
|
Cutaneous syndactyly between fingers 2 and 5, Sparse lateral eyebrow, Single transverse palmar cr... |
OMIM:601224 |
| Erythrokeratodermia Variabilis |
|
Patchy palmoplantar hyperkeratosis, Abnormal hair morphology, Alopecia, Generalized hirsutism, Br... |
ORPHA:317 |
| Thai Symphalangism Syndrome |
|
Postaxial hand polydactyly, Distal symphalangism of hands, Short finger, Proximal symphalangism o... |
OMIM:608028 |
| Thanatophoric Dysplasia, Type Ii |
|
Metaphyseal irregularity, Hypoplastic ilia, Short greater sciatic notch, Small abnormally formed ... |
OMIM:187601 |
| Spastic Paraplegia 20, Autosomal Recessive |
|
Camptodactyly, Clinodactyly, Short foot, Hammertoe, Brachydactyly |
OMIM:275900 |
| Bardet-Biedl Syndrome 9 |
|
Postaxial hand polydactyly, Polydactyly, Postaxial polydactyly, Syndactyly, Postaxial foot polyda... |
OMIM:615986 |
| Abruzzo-Erickson Syndrome |
|
Toe syndactyly, Radioulnar synostosis, Ulnar deviation of finger, Short toe, Brachydactyly |
ORPHA:921 |
| Lowry-Wood Syndrome |
|
Dislocated radial head, Elbow dislocation, Abnormality of epiphysis morphology, Irregular epiphys... |
ORPHA:1824 |
| Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Short finger, Brachydactyly, Tapered finger, Short toe |
OMIM:610680 |
| Non-Distal Monosomy 10Q |
|
Overlapping fingers, Bilateral single transverse palmar creases, Synophrys, Clinodactyly of the 5... |
ORPHA:1581 |
| Chromosome 15Q26-Qter Deletion Syndrome |
|
Talipes equinovarus, Short middle phalanx of finger, Brachydactyly |
OMIM:612626 |
| Keratoconus Posticus Circumscriptus |
|
Clinodactyly of the 5th finger, Limited elbow extension and supination, Brachydactyly |
OMIM:244600 |
| Frontonasal Dysplasia 1 |
|
Pectoral muscle hypoplasia/aplasia, Postaxial hand polydactyly, Widow's peak, Camptodactyly, Radi... |
OMIM:136760 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Sandal gap, Thick eyebrow, Syndactyly, Brachydactyly, Single transverse palmar crease, Fine hair,... |
OMIM:614800 |
| Bardet-Biedl Syndrome 17 |
|
Polydactyly, Brachydactyly, Mesoaxial polydactyly |
OMIM:615994 |
| Anauxetic Dysplasia 3 |
|
Genu valgum, Squared iliac bones, Hip subluxation, Trident hand, Short middle phalanx of finger, ... |
OMIM:618853 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Short femur, Rhizomelia, Hypoplastic scapulae, Dumbbell-shaped long bone, Metaphyseal widening, B... |
ORPHA:440354 |
| Coffin-Siris Syndrome 2 |
|
Low anterior hairline, Aplasia/Hypoplasia of the distal phalanges of the hand, Long eyelashes, Sp... |
OMIM:614607 |
| Brachydactyly, Type A1, With Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, And Mental Retardation |
|
Short proximal phalanx of finger, Short metatarsal, Short middle phalanx of finger, Aplasia/Hypop... |
OMIM:613627 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Clinodactyly, Brachydactyly |
OMIM:618048 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Squared iliac bones, Limb undergrowth, Coarse metaphyseal trabecularization, Short long bone, Met... |
OMIM:618961 |
| Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Cubitus valgus, Abnormal metatarsal morphology, Hypoplastic pelvis, Curly hair, Broad long bones,... |
ORPHA:163654 |
| Schneckenbecken Dysplasia |
|
Advanced tarsal ossification, Metaphyseal irregularity, Hypoplastic scapulae, Dumbbell-shaped lon... |
OMIM:269250 |
| Al-Raqad Syndrome |
|
Brachydactyly, Sandal gap |
OMIM:616459 |
| Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Postaxial hand polydactyly, Tarsal synostosis, Toe syndactyly, Broad toe, Short middle phalanx of... |
OMIM:263540 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Low anterior hairline, Flared iliac wing, Broad palm, Short finger, Metaphyseal cupping of metaca... |
OMIM:300232 |
| Corneodermatoosseous Syndrome |
|
Brachydactyly, Palmoplantar hyperkeratosis, Short distal phalanx of finger |
OMIM:122440 |
| Ruvalcaba Syndrome |
|
Abnormality of vertebral epiphysis morphology, Synostosis of carpal bones, Abnormality of the elb... |
ORPHA:3121 |
| Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Toe syndactyly, Abnormality of epiphysis morphology, Flexion contracture... |
ORPHA:3409 |
| Jansen-De Vries Syndrome |
|
Small hand, Brachydactyly, Short foot |
OMIM:617450 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Highly arched eyebrow, Synophrys, Thick eyebrow, Syndactyly, Brachydactyly |
OMIM:614701 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Cubitus valgus, Short toe, Short phalanx of finger, Tapered metacarpals, Single interphalangeal c... |
OMIM:611717 |
| Holt-Oram Syndrome |
|
Small thenar eminence, Limited elbow extension, Hypoplasia of the radius, Finger clinodactyly, Ap... |
OMIM:142900 |
| Temtamy Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Genu varum, Short toe |
ORPHA:1777 |
| Moebius Syndrome |
|
Short phalanx of finger, Split hand, Camptodactyly, Aplasia/Hypoplasia involving the metacarpal b... |
OMIM:157900 |
| Chst3-Related Skeletal Dysplasia |
|
Highly arched eyebrow, Genu valgum, Cubitus valgus, Sparse eyebrow, Rhizomelia, Abnormality of th... |
ORPHA:263463 |
| Dyggve-Melchior-Clausen Disease |
|
Short metatarsal, Carpal bone hypoplasia, Camptodactyly, Iliac crest serration, Flat acetabular r... |
OMIM:223800 |
| Nicolaides-Baraitser Syndrome |
|
Low anterior hairline, Short metatarsal, Short phalanx of finger, Absent eyebrow, Sandal gap, Spa... |
OMIM:601358 |
| Roifman Syndrome |
|
Delayed proximal femoral epiphyseal ossification, Prominent eyelashes, Broad femoral head, Bilate... |
ORPHA:353298 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metatarsal, Short phalanx of finger, Red hair, Cone-shaped epiphysis, Fair hair, Short meta... |
OMIM:614613 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Short phalanx of finger, Broad long bone diaphyses, Metaphyseal irregularity, Flared iliac wing, ... |
OMIM:300106 |
| Poland Syndrome |
|
Unilateral oligodactyly, Syndactyly, Hypoplasia of deltoid muscle, Unilateral brachydactyly |
OMIM:173800 |
| Roifman Syndrome |
|
Prominent eyelashes, Short metacarpal, Brachydactyly, Short toe, Short digit, Clinodactyly of the... |
OMIM:616651 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Short long bone, Brachydactyly, Postaxial polydactyly |
OMIM:615633 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Down-sloping shoulders, Clinodactyly of the 5th finger, Brachydactyly, Synophrys |
ORPHA:1390 |
| Laurence-Moon Syndrome |
|
Hand polydactyly, Brachydactyly, Bilateral single transverse palmar creases, Finger syndactyly |
ORPHA:2377 |
| Orofaciodigital Syndrome Iv |
|
Hand polydactyly, Toe syndactyly, Short finger, Postaxial polydactyly, Clinodactyly, Foot polydac... |
OMIM:258860 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Cubitus valgus, Highly arched eyebrow, Scapular winging, Camptodactyly of finger, Toe syndactyly,... |
ORPHA:1327 |
| Pycnodysostosis |
|
Osteolytic defects of the distal phalanges of the hand, Abnormality of pelvic girdle bone morphol... |
OMIM:265800 |
| Oculomaxillofacial Dysostosis |
|
Camptodactyly of finger, Abnormal eyelash morphology, Sparse or absent eyelashes, Abnormality of ... |
ORPHA:1794 |
| Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome |
|
Palmoplantar keratoderma, Cone-shaped epiphysis, Sparse scalp hair, Arachnodactyly, Brachydactyly |
ORPHA:2824 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Camptodactyly, Single transverse palmar crease, Clinodactyly, Tapered finger, Brachydactyly |
OMIM:300998 |
| Coffin-Siris Syndrome 7 |
|
Sparse scalp hair, Thick eyebrow, Brachydactyly, Clinodactyly |
OMIM:618027 |
| Atelosteogenesis Type Ii |
|
Short phalanx of finger, Elbow dislocation, Hitchhiker thumb, Camptodactyly, Sandal gap, Metatars... |
ORPHA:56304 |
| Schaaf-Yang Syndrome |
|
Rocker bottom foot, Camptodactyly, Narrow palm, Clinodactyly, Thick eyebrow, Small hand, Short fo... |
OMIM:615547 |
| Lowry-Wood Syndrome |
|
Limited elbow extension, Squared iliac bones, Irregular epiphyses, Clinodactyly of the 5th finger... |
OMIM:226960 |
| Pseudohypoparathyroidism, Type Ib |
|
Brachydactyly, Short metacarpal |
OMIM:603233 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Polydactyly, Short long bone, Brachydactyly |
OMIM:613819 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Sparse hair, Polydactyly, Hypoplastic scapulae, Bowing of the long bones, Postaxial polydactyly, ... |
OMIM:614091 |
| Greenberg Dysplasia |
|
Rhizomelia, Brachydactyly, Abnormal pelvis bone ossification, Micromelia |
ORPHA:1426 |
| Pfeiffer Syndrome |
|
Hip dysplasia, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Symphalangism affectin... |
ORPHA:710 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Broad thumb, Mesomelia, Short distal phalanx of finger, Partial duplication of the phalanx of han... |
OMIM:616331 |
| Marinesco-Sjögren Syndrome |
|
Hip dysplasia, Abnormality of finger, Abnormality of the metacarpal bones, Avascular necrosis of ... |
ORPHA:559 |
| Cardiospondylocarpofacial Syndrome |
|
Brachydactyly, Short palm, Synostosis of carpal bones |
ORPHA:3238 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Radial bowing, Limited elbow extension, Short middle phalanx of finger, Hypoplastic scapulae, Sho... |
OMIM:210720 |
| Bardet-Biedl Syndrome 3 |
|
Brachydactyly, Postaxial polydactyly |
OMIM:600151 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
2-3 toe syndactyly, Brachydactyly, Cutaneous syndactyly, Talipes equinovarus, Clinodactyly of the... |
OMIM:236500 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Carpal bone hypoplasia, Flattened femoral head, Tibial metaphyseal irregularity, Toe clinodactyly... |
ORPHA:457395 |
| Progressive Osseous Heteroplasia |
|
Brachydactyly |
ORPHA:2762 |
| Acrodysostosis |
|
Hypoplasia of the radius, Epiphyseal stippling, Short metatarsal, Short toe, Abnormality of the r... |
ORPHA:950 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Bilateral single transverse palmar creases, Thick eyebrow, Small hand, Short foot, Clinodactyly o... |
ORPHA:444002 |
| Fryns Microphthalmia Syndrome |
|
Bilateral cleft lip and palate, Neural tube defect |
OMIM:600776 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Broad thumb, Camptodactyly, Long eyelashes, Mesomelia, Clinodactyly, Brachydactyly |
OMIM:618529 |
| Otospondylomegaepiphyseal Dysplasia |
|
Dumbbell-shaped femur, Abnormality of long bone morphology, Short phalanx of finger, Abnormal pel... |
ORPHA:1427 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Broad thumb, Rhizomelia, Short finger, Irregular epiphyses, Mesomelia, Metaphyseal widening, Brac... |
OMIM:612813 |
| Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Camptodactyly, Clinodactyly, Hypertrichosis, Talipes equinovarus, Brachydactyly |
OMIM:616354 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Split hand, Brachydactyly, Micromelia |
ORPHA:2145 |
| Eiken Syndrome |
|
Delayed ossification of carpal bones, Broad metatarsal, Short middle phalanx of finger, Broad fem... |
OMIM:600002 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Short finger, 2-3 toe syndactyly, Cone-shaped epiphysis, Broad hallux, Short toe, Brachydactyly, ... |
OMIM:618659 |
| Weill-Marchesani Syndrome 4 |
|
Brachydactyly |
OMIM:613195 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Brachydactyly |
OMIM:610498 |
| Pseudopseudohypoparathyroidism |
|
Brachydactyly, Short metatarsal, Short metacarpal |
OMIM:612463 |
| Achondroplasia |
|
Limited elbow extension, Short proximal phalanx of finger, Trident hand, Short middle phalanx of ... |
ORPHA:15 |
| Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia |
|
Brachydactyly, Sandal gap |
OMIM:600991 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Widow's peak, Brachydactyly, Short foot |
OMIM:266265 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Clinodactyly, Camptodactyly, Brachydactyly |
OMIM:613604 |
| Pde4D Haploinsufficiency Syndrome |
|
Upper limb undergrowth, Short metatarsal, Short phalanx of finger, Short middle phalanx of finger... |
ORPHA:439822 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Short iliac bones, Rhizomelia, Short foot, Metaphyseal widening, Brachydactyly |
OMIM:614376 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Dislocated radial head, Synophrys, Limited elbow extension and supination, Short thumb, Brachydac... |
ORPHA:401935 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Camptodactyly of finger, Brachydactyly, Long eyelashes |
ORPHA:2863 |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Genu valgum, Synophrys, Short distal phalanx of finger, Abnormality of the metacarpal bones, Brac... |
ORPHA:1295 |
| Hall-Riggs Syndrome |
|
Thick hair, Abnormality of epiphysis morphology, Coarse hair, Limb undergrowth, Slow-growing hair... |
ORPHA:2107 |
| Cono-Spondylar Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Short humerus, Short 4th toe, Short lower lim... |
ORPHA:420794 |
| Acrofrontofacionasal Dysostosis |
|
Camptodactyly of finger, Broad thumb, Abnormality of epiphysis morphology, Short distal phalanx o... |
ORPHA:1784 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Brachydactyly, Abnormality of epiphysis morphology |
ORPHA:2643 |
| Mohr Syndrome |
|
Partial duplication of the phalanges of the hallux, Preaxial hand polydactyly, Postaxial hand pol... |
OMIM:252100 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Scapular winging, Short metatarsal, Short phalanx of finger, Toe syndactyly, Short metacarpal, Cl... |
OMIM:170390 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Abnormality of the elbow, Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Low posterior hai... |
ORPHA:2701 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Talipes equinovarus, Absent tibia, Preaxial polydactyly, Cone-shaped epiphysis, Postaxial polydac... |
OMIM:613091 |
| Opsismodysplasia |
|
Squared iliac bones, Broad thumb, Abnormality of epiphysis morphology, Hypoplastic pubic bone, Hy... |
ORPHA:2746 |
| Atelosteogenesis, Type I |
|
Radial bowing, Club-shaped proximal femur, Short femur, Short metatarsal, Elbow dislocation, Rhiz... |
OMIM:108720 |
| Carpenter Syndrome 1 |
|
Genu valgum, Aplasia/Hypoplasia of the middle phalanges of the hand, Postaxial hand polydactyly, ... |
OMIM:201000 |
| 20P13 Microdeletion Syndrome |
|
Highly arched eyebrow, Finger syndactyly, Polydactyly, Synophrys, Clinodactyly, Brachydactyly |
ORPHA:313781 |
| Cardioacrofacial Dysplasia 2 |
|
Genu valgum, Postaxial hand polydactyly, Limb undergrowth, Postaxial foot polydactyly, Clubbing, ... |
OMIM:619143 |
| Larsen Syndrome |
|
Broad distal phalanx of finger, Broad thumb, Accessory carpal bones, Abnormality of epiphysis mor... |
ORPHA:503 |
| Craniofaciofrontodigital Syndrome |
|
Abnormal thumb morphology, Hirsutism, Thick eyebrow, Abnormal hip bone morphology, Abnormal shoul... |
ORPHA:363705 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Sparse hair, Synostosis of carpal bones, Finger syndactyly, Short middle phalanx of finger, Abnor... |
ORPHA:1005 |
| Müllerian Aplasia And Hyperandrogenism |
|
Cubitus valgus, High anterior hairline, Hirsutism, Synophrys, Frontal balding, Facial hirsutism, ... |
ORPHA:247768 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Talipes equinovarus, Short toe, Short phalanx of finger, Metaphyseal irregularity, Flared iliac w... |
OMIM:250220 |
| Adams-Oliver Syndrome 6 |
|
Foot oligodactyly, Brachydactyly, Syndactyly |
OMIM:616589 |
| Bent Bone Dysplasia Syndrome |
|
Hirsutism, Brachydactyly, Short clavicles |
OMIM:614592 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Hypoplasia of the radius, Hypoplastic ilia, Postaxial polydactyly, Syndactyly, Brachydactyly, Mic... |
OMIM:617895 |
| Thanatophoric Dysplasia |
|
Abnormal ilium morphology, Hip dysplasia, Abnormal sacroiliac joint morphology, Abnormality of th... |
ORPHA:2655 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Short metatarsal, Sparse hair, Breast hypoplasia, Hypoplastic pelvis, Cone-shaped epiphysis, Shor... |
OMIM:614813 |
| Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Hypoplasia of the radius, Sparse hair, Hypoplastic pelvis, Prominent palmar flexion creases, Rhiz... |
OMIM:602613 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Brachydactyly, Short toe |
ORPHA:3085 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Broad thumb, Short metatarsal, Short phalanx of finger, Flared iliac wing, Split hand, Hypoplasti... |
OMIM:609945 |
| 2Q37 Microdeletion Syndrome |
|
Highly arched eyebrow, Toe syndactyly, Finger syndactyly, Bilateral single transverse palmar crea... |
ORPHA:1001 |
| Laron Syndrome |
|
Abnormality of the elbow, Brachydactyly, Short toe |
ORPHA:633 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Preaxial polydactyly, Postaxial polydactyly, Short long bone, Syndactyly, Acetabular spurs, Brach... |
OMIM:615503 |
| Cryptomicrotia-Brachydactyly Syndrome |
|
Brachytelomesophalangy |
OMIM:123560 |
| Premature Aging Syndrome, Penttinen Type |
|
Slender long bone, Brachydactyly, Sparse hair, Osteolytic defects of the phalanges of the hand |
OMIM:601812 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Highly arched eyebrow, Clinodactyly, Brachydactyly, Synophrys |
OMIM:617062 |
| Hall-Riggs Mental Retardation Syndrome |
|
Metaphyseal dysplasia, Brachydactyly |
OMIM:234250 |
| Weill-Marchesani Syndrome |
|
Brachydactyly, Short thumb |
ORPHA:3449 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Limited elbow extension, Genu valgum, Scapular winging, Finger joint hypermobility, 2-3 toe synda... |
OMIM:618870 |
| Microcephaly-Capillary Malformation Syndrome |
|
Short distal phalanx of finger, Clinodactyly, Brachydactyly, Abnormal hair whorl |
OMIM:614261 |
| Thanatophoric Dysplasia Type 1 |
|
Abnormal sacroiliac joint morphology, Short femur, Split hand, Hypoplastic ilia, Short greater sc... |
ORPHA:1860 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
2-3 toe syndactyly, Synophrys, Talipes equinovarus, Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:3306 |
| Frank-Ter Haar Syndrome |
|
Camptodactyly of finger, Clinodactyly of the 5th finger, Brachydactyly, Abnormality of the metaca... |
ORPHA:137834 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Short distal phalanx of finger, Syndactyly, Sparse and thin eyebrow, Talipes equinovarus, Short d... |
OMIM:615789 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Steep acetabular roof, Incomplete ossification of pubis, Hirsutism, Hypoplastic ischia, Bowing of... |
ORPHA:313855 |
| Feingold Syndrome |
|
Toe syndactyly, Deviation of the 2nd finger, Clinodactyly of the 5th finger, Brachydactyly, Hallu... |
ORPHA:1305 |
| Fountain Syndrome |
|
Large hands, Synophrys, Short distal phalanx of finger, Abnormality of the metacarpal bones, Coar... |
ORPHA:3219 |
| Lujan-Fryns Syndrome |
|
Camptodactyly of finger, Arachnodactyly, Brachydactyly |
ORPHA:776 |
| Trichorhinophalangeal Syndrome Type 2 |
|
Hip dysplasia, Genu valgum, Bilateral single transverse palmar creases, Sparse scalp hair, Avascu... |
ORPHA:502 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Rhizomelia, Brachydactyly, Broad thumb, Mesomelia |
ORPHA:171866 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Broad thumb, Large hands, Bilateral single transverse palmar creases, Abnormal hair pattern, Brac... |
ORPHA:1770 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Dislocated radial head, Delayed ossification of carpal bones, Metaphyseal dysplasia, Narrow great... |
OMIM:617425 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Genu valgum, Postaxial hand polydactyly, Short long bone, Cone-shaped epiphyses of the phalanges ... |
OMIM:615630 |
| Weill-Marchesani Syndrome 3 |
|
Brachydactyly |
OMIM:614819 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Exencephaly |
ORPHA:2211 |
| Lymphedema-Hypoparathyroidism Syndrome |
|
Brachydactyly, Hypertrichosis, Increased carrying angle |
OMIM:247410 |
| Acrofacial Dysostosis, Catania Type |
|
Finger syndactyly, Coarse hair, Bilateral single transverse palmar creases, Small hand, Abnormal ... |
ORPHA:1786 |
| Short Rib-Polydactyly Syndrome |
|
Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Abnormal pelvis bone... |
ORPHA:1505 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Large hands, Short distal phalanx of finger, Patchy alopecia, Short foot, Talipes equinovarus, Br... |
OMIM:300534 |
| Aarskog-Scott Syndrome |
|
Short 5th finger, Broad palm, Widow's peak, Radial deviation of finger, Clinodactyly, Syndactyly,... |
OMIM:305400 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Small hand, Brachydactyly, Short foot, Sandal gap |
OMIM:300354 |
| Suleiman-El-Hattab Syndrome |
|
Highly arched eyebrow, Polydactyly, Hirsutism, Synophrys, Thick eyebrow, Clinodactyly, Frontal hi... |
OMIM:618950 |
| Tonne-Kalscheuer Syndrome |
|
Brachydactyly, Broad thumb, Fine hair |
OMIM:300978 |
| Cleidocranial Dysplasia |
|
Genu valgum, Abnormal thumb morphology, Abnormality of epiphysis morphology, Hypoplastic inferior... |
ORPHA:1452 |
| 16P12.1P12.3 Triplication Syndrome |
|
Short 5th finger, Clinodactyly of the 4th finger, 2-3 toe syndactyly, Thick eyebrow, Prominent fi... |
ORPHA:485405 |
| Rubinstein-Taybi Syndrome |
|
Hip dysplasia, Highly arched eyebrow, Broad thumb, Finger syndactyly, Broad hallux phalanx, Clubb... |
ORPHA:783 |
| Adams-Oliver Syndrome |
|
Absent hand, Sparse hair, Finger syndactyly, Split hand, Abnormality of the metacarpal bones, Sho... |
ORPHA:974 |
| 15Q24 Microdeletion Syndrome |
|
Abnormal thumb morphology, High anterior hairline, Broad eyebrow, Clinodactyly, Small hand, Proxi... |
ORPHA:94065 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Highly arched eyebrow, Camptodactyly of finger, Bilateral single transverse palmar creases, Abnor... |
ORPHA:2083 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Generalized hirsutism, Brachydactyly, Short distal phalanx of finger |
ORPHA:1563 |
| Temtamy Syndrome |
|
Highly arched eyebrow, Short 2nd toe, Talipes equinovarus, Hip dislocation, Brachydactyly |
OMIM:218340 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Genu valgum, Abnormality of epiphysis morphology, Coxa vara, Flared metaphysis, Aplastic clavicle... |
ORPHA:93314 |
| Smith-Magenis Syndrome |
|
Broad palm, Abnormality of the forearm, Synophrys, Brachydactyly, Short palm |
OMIM:182290 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Coxa valga, Short distal phalanx of finger |
ORPHA:2163 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Small thenar eminence, 2-3 toe syndactyly, Joint contracture of the 5th finger, Sandal gap, Joint... |
OMIM:618914 |
| Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
High anterior hairline, Short distal phalanx of toe, Symphalangism affecting the phalanges of the... |
ORPHA:1292 |
| Pseudohypoparathyroidism, Type Ia |
|
Short toe, Short metatarsal, Short finger, Short metacarpal, Brachydactyly |
OMIM:103580 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Brachydactyly, Abnormality of the metacarpal bones |
ORPHA:93262 |
| Moebius Syndrome |
|
Absent hand, Finger syndactyly, Aplasia of the pectoralis major muscle, Breast aplasia, Aplasia/H... |
ORPHA:570 |
| Roberts Syndrome |
|
Mesomelic arm shortening, Hypoplasia of the radius, Sparse hair, Radioulnar synostosis, Synostosi... |
ORPHA:3103 |
| Codas Syndrome |
|
Congenital hip dislocation, Abnormality of epiphysis morphology, Short metacarpal, Brachydactyly,... |
ORPHA:1458 |
| Lethal Kniest-Like Dysplasia |
|
Mesomelic/rhizomelic limb shortening, Abnormality of the ischium, Broad long bones, Hypoplastic i... |
ORPHA:2347 |
| Chitayat Syndrome |
|
Brachydactyly, Hallux valgus |
OMIM:617180 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Brachydactyly, Short metatarsal, Short metacarpal |
OMIM:617157 |
| Pycnodysostosis |
|
Abnormality of epiphysis morphology, Short distal phalanx of finger, Abnormal pelvis bone ossific... |
ORPHA:763 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Metaphyseal chondrodysplasia, Sparse eyebrow, Sparse hair, High anterior hairline, Short distal p... |
OMIM:250410 |
| Craniosynostosis 2 |
|
Triphalangeal thumb, Brachydactyly |
OMIM:604757 |
| Rhyns Syndrome |
|
Radial bowing, Short femoral neck, Brachydactyly |
OMIM:602152 |
| Vitamin K Antagonist Embryofetopathy |
|
Epiphyseal stippling, Brachydactyly, Short distal phalanx of finger |
ORPHA:1914 |
| Oculodentodigital Dysplasia |
|
Short hallux, Aplasia/Hypoplasia of the middle phalanges of the hand, Camptodactyly of finger, Pr... |
ORPHA:2710 |
| Endocrine-Cerebroosteodysplasia |
|
Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Sandal gap, Ulnar deviation of the hand... |
OMIM:612651 |
| Aredyld Syndrome |
|
Sparse body hair, Abnormality of pelvic girdle bone morphology, Brachydactyly, Aplasia/Hypoplasia... |
ORPHA:1133 |
| 2Q31.1 Microdeletion Syndrome |
|
Low anterior hairline, Camptodactyly of finger, Abnormality of tibia morphology, Toe syndactyly, ... |
ORPHA:251014 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Brachydactyly |
OMIM:618265 |
| Distal Monosomy 10Q |
|
Hip dysplasia, Scapular winging, Short metatarsal, Widow's peak, Sandal gap, Brachydactyly, Clino... |
ORPHA:96148 |
| Craniorachischisis |
|
Cervical spina bifida, Sirenomelia, Spinal dysraphism, Omphalocele, Anencephaly, Anal atresia, My... |
ORPHA:63260 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Brachydactyly, Patellar hypoplasia, Short fourth metatarsal |
ORPHA:464288 |
| Thanatophoric Dysplasia Type 2 |
|
Abnormality of the metaphysis, Brachydactyly, Micromelia |
ORPHA:93274 |
| Cardiospondylocarpofacial Syndrome |
|
Tarsal synostosis, Cone-shaped epiphysis, Short foot, Pseudoepiphyses, Carpal synostosis, Brachyd... |
OMIM:157800 |
| Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Brachydactyly |
ORPHA:436245 |
| Gorlin Syndrome |
|
Palmar pits, Arachnodactyly, Brachydactyly |
ORPHA:377 |
| Coffin-Siris Syndrome 6 |
|
Clinodactyly, Brachydactyly |
OMIM:617808 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Brachydactyly, Sandal gap |
ORPHA:2180 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Low anterior hairline, Highly arched eyebrow, Short 5th finger, Toe syndactyly, Thick hair, Hirsu... |
OMIM:610759 |
| Monosomy 18P |
|
Low posterior hairline, Brachydactyly, Alopecia |
ORPHA:1598 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
3-4 toe syndactyly, Scarring alopecia of scalp, Sandal gap, Clinodactyly, Broad hallux, Brachydac... |
OMIM:618727 |
| Corneodermatoosseous Syndrome |
|
Abnormality of finger, Palmoplantar keratoderma, Abnormality of the metacarpal bones, Abnormality... |
ORPHA:3194 |
| Hypoglossia-Hypodactyly Syndrome |
|
Aplasia/Hypoplasia of fingers, Adactyly, Upper limb phocomelia, Finger syndactyly, Split hand, Sh... |
ORPHA:989 |
| Atelosteogenesis Type I |
|
Short femur, Abnormal ossification involving the femoral head and neck, Rhizomelia, Limb undergro... |
ORPHA:1190 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Postaxial hand polydactyly, Elbow dislocation, Clinodactyly of the 5th finger, Low posterior hair... |
ORPHA:2916 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Metaphyseal irregularity, Rhizomelia, Irregular epiphyses, 2-3 toe syndactyly, Mesomelia, Elbow f... |
OMIM:618162 |
| Saethre-Chotzen Syndrome |
|
Low anterior hairline, Broad thumb, Finger syndactyly, Bilateral single transverse palmar creases... |
ORPHA:794 |
| Kniest-Like Dysplasia, Lethal |
|
Metaphyseal irregularity, Short diaphyses, Rhizomelia, Hypoplastic ilia, Dumbbell-shaped long bon... |
OMIM:245190 |
| Radio-Tartaglia Syndrome |
|
Highly arched eyebrow, Low anterior hairline, High anterior hairline, Hirsutism, Long eyelashes, ... |
OMIM:619312 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Genu valgum, Congenital hip dislocation, Metaphyseal irregularity, Thick eyebrow, Brachydactyly, ... |
OMIM:616007 |
| Cranioectodermal Dysplasia 3 |
|
Sparse hair, Postaxial polydactyly, Sandal gap, Syndactyly, Short nail, Brachydactyly, Fine hair |
OMIM:614099 |
| Chromosome 17Q12 Duplication Syndrome |
|
Brachydactyly, Broad thumb |
OMIM:614526 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hand polydactyly, Short phalanx of finger, Metaphyseal irregularity, Hypoplastic pelvis, Irregula... |
OMIM:208500 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Abnormality of epiphysis morphology, Micromelia, Hypoplastic iliac wing, Coxa vara, Aplasia/Hypop... |
ORPHA:2637 |
| Grange Syndrome |
|
Syndactyly, Brachydactyly, Finger clinodactyly |
OMIM:602531 |
| Cranioectodermal Dysplasia 1 |
|
Short toe, Triphalangeal hallux, Sparse hair, Broad toe, Rhizomelia, Broad distal phalanges of al... |
OMIM:218330 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Tarsal synostosis, Camptodactyly, Hirsutism, Elbow flexion contracture, Femoral bowing, Narrow pe... |
ORPHA:95699 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Dislocated radial head, Epiphyseal stippling, Short metatarsal, Short phalanx of finger, Broad pa... |
OMIM:101800 |
| Osteoglosphonic Dysplasia |
|
Rhizomelia, Brachydactyly |
ORPHA:2645 |
| Rin2 Syndrome |
|
Sparse scalp hair, Hirsutism, Brachydactyly |
ORPHA:217335 |
| Craniofrontonasal Syndrome |
|
Toe syndactyly, Breast hypoplasia, Widow's peak, Down-sloping shoulders, Broad hallux, Hemihypotr... |
OMIM:304110 |
| Trisomy 9P |
|
Clinodactyly of the 5th finger, Brachydactyly, Bilateral single transverse palmar creases |
ORPHA:236 |
| Bardet-Biedl Syndrome 1 |
|
Postaxial hand polydactyly, Hirsutism, Radial deviation of finger, Syndactyly, Foot polydactyly, ... |
OMIM:209900 |
| Fibrochondrogenesis |
|
Camptodactyly of finger, Hypoplastic scapul |
