| Sugarman Brachydactyly |
|
Proximal placement of hallux, Short proximal phalanx of finger, Symphalangism affecting the proxi... |
OMIM:272150 |
| Brachydactyly, Type D |
|
Type D brachydactyly, Broad distal phalanx of the thumb, Broad distal phalanx of the hallux |
OMIM:113200 |
| Brachydactyly, Type A3 |
|
Clinodactyly of the 5th finger, Rhomboid or triangular shaped 5th finger middle phalanx, Short mi... |
OMIM:112700 |
| Familial Digital Arthropathy-Brachydactyly |
|
Shortening of all distal phalanges of the toes, Short middle phalanx of finger, Osteoarthritis of... |
ORPHA:85169 |
| Brachydactyly, Type C |
|
Pseudoepiphysis of the 2nd finger, Triangular shaped middle phalanx of the 2nd finger, Ulnar devi... |
OMIM:113100 |
| Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay |
|
Type A1 brachydactyly |
OMIM:188201 |
| Digital Arthropathy-Brachydactyly, Familial |
|
Radial deviation of finger, Brachytelomesophalangy, Short distal phalanx of toe, Short middle pha... |
OMIM:606835 |
| Cleidorhizomelic Syndrome |
|
Diaphyseal undertubulation, Bilateral single transverse palmar creases, Rhizomelia, Clinodactyly ... |
ORPHA:1453 |
| Triphalangeal Thumbs With Brachyectrodactyly |
|
Triphalangeal thumb, Short 2nd finger, Split hand, Split foot, Brachydactyly, Short 3rd toe |
OMIM:190680 |
| Brachydactyly, Type A1, B |
|
Radial deviation of finger, Cone-shaped epiphyses of the phalanges of the hand, Type A brachydact... |
OMIM:607004 |
| Brachydactyly, Type A1 |
|
Thin proximal phalanges with broad epiphyses of the hand, Proportionate shortening of all digits,... |
OMIM:112500 |
| Brachydactyly, Type A4 |
|
Short middle phalanx of the 2nd finger, Short middle phalanx of the 5th finger, Aplasia of the mi... |
OMIM:112800 |
| Brachydactyly Type A2 |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... |
ORPHA:93396 |
| Thiemann Disease, Familial Form |
|
Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:3314 |
| Liebenberg Syndrome |
|
Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia... |
OMIM:186550 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger symphalangism, Reduced proximal interphalangeal joint space, Short distal phalanx of hallu... |
ORPHA:3246 |
| Ectrodactyly-Polydactyly Syndrome |
|
Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp... |
ORPHA:1892 |
| Brachydactyly, Type A2, With Microcephaly |
|
Clinodactyly of the 2nd toe, Type A2 brachydactyly, Thumbs hypoplastic with bulbous tips, Absent ... |
OMIM:211369 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Abnormal thumb morphology, Abnormal metacarpal morphology, Type A brachydactyly |
ORPHA:1078 |
| Heart-Hand Syndrome, Spanish Type |
|
Short middle phalanx of finger, Brachydactyly, Ulnar deviation of the 2nd finger |
OMIM:140450 |
| Brachydactyly-Syndactyly Syndrome |
|
Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl... |
OMIM:610713 |
| Banki Syndrome |
|
Clinodactyly of the 5th finger, Synostosis of carpal bones, Brachydactyly, Abnormal metacarpal mo... |
ORPHA:1228 |
| Syndactyly, Type V |
|
Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas... |
OMIM:186300 |
| Gombo Syndrome |
|
Radial deviation of finger, Clinodactyly, Brachydactyly |
OMIM:233270 |
| Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Rhizomelia, Postaxial hand polydactyly, Short metacarpal, Mesomelia, Brachydactyly, Broad palm, S... |
OMIM:611263 |
| Coloboma Of Macula With Type B Brachydactyly |
|
Absent distal phalanges, Bifid distal phalanx of the thumb, Type B brachydactyly, Broad distal ph... |
OMIM:120400 |
| Arthrogryposis, Distal, Type 2B2 |
|
Overlapping fingers, Sandal gap, Tapered finger, Camptodactyly, Metatarsus adductus, Short toe, U... |
OMIM:618435 |
| Exostoses With Anetodermia And Brachydactyly, Type E |
|
Type E brachydactyly |
OMIM:133690 |
| Cooks Syndrome |
|
Dystrophic fingernails, Triphalangeal thumb, Dystrophic toenail, Split hand, Broad thumb, Brachyd... |
ORPHA:1487 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, P... |
OMIM:618167 |
| Brachydactyly Type B2 |
|
Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang... |
ORPHA:140908 |
| Multiple Synostoses Syndrome |
|
Bilateral single transverse palmar creases, Broad thumb, Short palm, Symphalangism affecting the ... |
ORPHA:3237 |
| Brachydactyly Type C |
|
Clinodactyly of the 5th finger, Short metatarsal, Aplasia/Hypoplasia of the 1st metacarpal, Pseud... |
ORPHA:93384 |
| Brachydactyly Type B |
|
Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy... |
ORPHA:93383 |
| Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Broad thumb, Camptodactyly of finger, Short distal phalanx of finger, Type B brachydactyly |
ORPHA:1471 |
| Brachydactyly, Type A2 |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... |
OMIM:112600 |
| Brachydactyly, Type A1, C |
|
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... |
OMIM:615072 |
| Heart-Hand Syndrome, Slovenian Type |
|
Brachydactyly, Clinodactyly, Syndactyly, Aplasia of the middle phalanx of the hand |
OMIM:610140 |
| Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome |
|
Short thumb, Brachydactyly |
ORPHA:435804 |
| Tarsal-Carpal Coalition Syndrome |
|
Short finger, Radial deviation of finger, Tarsal synostosis, Cubitus valgus, Distal symphalangism... |
OMIM:186570 |
| Santos Syndrome |
|
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... |
OMIM:613005 |
| Symphalangism, Distal |
|
Absent dorsal skin creases over affected joints, Distal symphalangism of hands, Brachydactyly, Di... |
OMIM:185700 |
| Hirschsprung Disease With Type D Brachydactyly |
|
Short thumb, Type D brachydactyly |
OMIM:306980 |
| Brachydactyly-Arterial Hypertension Syndrome |
|
Short phalanx of finger, Short metacarpal, Brachydactyly |
ORPHA:1276 |
| Epiphyseal Dysplasia, Multiple, 4 |
|
Flat capital femoral epiphysis, Short metacarpal, Hypoplasia of the femoral head, Epiphyseal dysp... |
OMIM:226900 |
| Hypertension And Brachydactyly Syndrome |
|
Short phalanx of finger, Cone-shaped epiphysis, Type E brachydactyly, Short metacarpal |
OMIM:112410 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Clinodactyly of the 5th finger, Synostosis of carpal bones, Abnormality of the humerus, Abnormal ... |
ORPHA:1275 |
| Feingold Syndrome Type 2 |
|
Toe syndactyly, Short middle phalanx of finger, Short thumb, Brachydactyly |
ORPHA:391646 |
| Chromosome 15Q13.3 Deletion Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Synophrys |
OMIM:612001 |
| Emery-Nelson Syndrome |
|
Abnormal thumb morphology, Metacarpophalangeal joint contracture, Low posterior hairline, Camptod... |
ORPHA:1927 |
| Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Type E brachydactyly |
ORPHA:1962 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Short finger, Clinodactyly of the 5th finger, Short toe, Brachydactyly, Short 5th metacarpal |
OMIM:604381 |
| 2q37 monosomy |
|
Brachydactyly |
DECIPHER:44 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Talipes equinovarus, Brachydactyly, Short 5th finger, Aplasia/Hypoplasia of the fibula, Short foo... |
ORPHA:52056 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Rhizomelia, Short metatarsal, Deformed humeral heads, Short metacarpal, Coxa vara, Short humerus,... |
OMIM:601438 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Narrow greater sciatic notch, Sclerotic humeral metaphysis, Metaphyseal sclerosis, Osteoporotic t... |
OMIM:609052 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... |
OMIM:113310 |
| Tetrasomy X |
|
Radioulnar synostosis, Clinodactyly of the 5th finger, Brachydactyly, Hip dysplasia |
ORPHA:9 |
| Proximal Symphalangism |
|
Tarsal synostosis, Abnormality of the wrist, Clinodactyly of the 5th finger, Abnormal metacarpal ... |
ORPHA:3250 |
| Osebold-Remondini Syndrome |
|
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... |
OMIM:112910 |
| Chromosome 20Q11-Q12 Deletion Syndrome |
|
Tarsal osteovalgus, Camptodactyly, Brachydactyly, Adducted thumb, Finger clinodactyly |
OMIM:614257 |
| Bardet-Biedl Syndrome 5 |
|
Polydactyly, Syndactyly, Brachydactyly |
OMIM:615983 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Bilateral single transverse palmar creases, Abnormal thumb morphology, Tarsal synostosis, Abnorma... |
ORPHA:2639 |
| Heart-Hand Syndrome Type 2 |
|
Short 4th metacarpal, Abnormality of the wrist, Abnormal shoulder morphology, Abnormal metacarpal... |
ORPHA:1350 |
| 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, Brachydactyly, Short distal phalanx of the thumb |
ORPHA:2150 |
| Deafness, Congenital, With Onychodystrophy, Autosomal Dominant |
|
Nail dystrophy, Triphalangeal thumb, Absent middle phalanx of 5th finger, Bilateral triphalangeal... |
OMIM:124480 |
| Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Radial club hand, Short metatarsal, Short metacarpal, Synophrys, Broad thumb, Thick eyebrow, Brac... |
ORPHA:1278 |
| Camptobrachydactyly |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Camptodactyly of finger, Brachydactyly, Ulnar... |
ORPHA:1319 |
| Smith-Magenis syndrome |
|
Brachydactyly |
DECIPHER:8 |
| Acromesomelic Dysplasia, Grebe Type |
|
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... |
ORPHA:2098 |
| Pseudopseudohypoparathyroidism |
|
Short 4th metacarpal, Short metatarsal, Brachydactyly, Short distal phalanx of the 3rd finger, Sh... |
ORPHA:79445 |
| Brachydactyly Type E |
|
Aplasia/Hypoplasia of the distal phalanx of the hallux, Type E brachydactyly, Short metatarsal, S... |
ORPHA:93387 |
| Weyers Acrofacial Dysostosis |
|
Clinodactyly of the 5th finger, Postaxial hand polydactyly, Short palm, Brachydactyly, Postaxial ... |
OMIM:193530 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Osseous finger syndactyly, 3-4 finger cutaneous syndactyly, Triangular shaped distal phalanx of t... |
ORPHA:370010 |
| Non-Syndromic Bicoronal Craniosynostosis |
|
Metacarpal synostosis, Brachydactyly |
ORPHA:35099 |
| 20Q11.2 Microdeletion Syndrome |
|
Brachydactyly, Adducted thumb, Finger clinodactyly, Camptodactyly |
ORPHA:444051 |
| Camptobrachydactyly |
|
Congenital finger flexion contractures, Hand polydactyly, Short toe, Syndactyly, Brachydactyly |
OMIM:114150 |
| Bardet-Biedl Syndrome 18 |
|
Brachydactyly |
OMIM:615995 |
| Brachydactyly-Nystagmus-Cerebellar Ataxia |
|
Short metacarpal, Short metatarsal, Brachydactyly |
OMIM:113400 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Bilateral single transverse palmar creases, Tarsal synostosis, Abnormally shaped carpal bones, Cu... |
ORPHA:968 |
| Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal shoulder morphology, Mesomelia, Brachydactyly |
ORPHA:1277 |
| Eng-Strom Syndrome |
|
Camptodactyly of finger, Brachydactyly |
ORPHA:1937 |
| Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly |
OMIM:619248 |
| Trichothiodystrophy 9, Nonphotosensitive |
|
Nail dystrophy, Tiger tail banding, Sparse eyebrow, Brachydactyly, Sparse hair |
OMIM:619692 |
| Brachydactyly, Type E2 |
|
Short metacarpal, Short metatarsal, Brachydactyly |
OMIM:613382 |
| Pseudoachondroplasia |
|
Short long bone, Flat acetabular roof, Hypoplastic pelvis, Metaphyseal irregularity, Shortening o... |
ORPHA:750 |
| Hypochondroplasia |
|
Abnormal metaphysis morphology, Abnormal femur morphology, Bowing of the long bones, Abnormal pel... |
ORPHA:429 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Nail dystrophy, Short first metatarsal, Single transverse palmar crease, Abnormality of hair text... |
OMIM:601957 |
| Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Short 4th metacarpal, Type E brachydactyly, Short metatarsal |
OMIM:113301 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Postaxial hand polydactyly, Acetabular spurs, Brachydactyly, Trident acetabulum, Postaxial foot p... |
OMIM:617405 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Short distal phalanx of finger, Brachydactyly |
ORPHA:2787 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... |
ORPHA:3329 |
| Acromicric Dysplasia |
|
Abnormal femur morphology, Short metacarpal, Long eyelashes, Short palm, Abnormal eyebrow morphol... |
ORPHA:969 |
| Orofaciodigital Syndrome Xviii |
|
Preaxial polydactyly, Genu valgum, Sandal gap, Single transverse palmar crease, Postaxial polydac... |
OMIM:617927 |
| Acromesomelic Dysplasia 2B |
|
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... |
OMIM:228900 |
| Mal De Meleda |
|
Congenital symmetrical palmoplantar keratosis, Brachydactyly |
OMIM:248300 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, A... |
ORPHA:2370 |
| Multiple Synostoses Syndrome 2 |
|
Finger symphalangism, Tarsal synostosis, Talipes equinovarus, Humeroradial synostosis, Brachydact... |
OMIM:610017 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Short digit, Abnormal hand morphology, Clinodactyly of the 5th finger, Short 5th metacarpal |
ORPHA:228190 |
| Léri-Weill Dyschondrosteosis |
|
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... |
ORPHA:240 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of... |
OMIM:609616 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... |
OMIM:612576 |
| Tetralogy Of Fallot |
|
Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:3303 |
| Keipert Syndrome |
|
Broad distal phalanx of finger, Camptodactyly, Broad thumb, Broad hallux, Brachydactyly, Clinodac... |
OMIM:301026 |
| Brachydactyly, Type E1 |
|
Type E brachydactyly, Short metatarsal, Short clavicles, Short metacarpal, Brachydactyly |
OMIM:113300 |
| Spondyloperipheral Dysplasia |
|
Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Short distal phala... |
OMIM:271700 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Bowing of the legs, Hirsutism, Lower limb undergrowth, Brachydactyly |
OMIM:612847 |
| Craniosynostosis 3 |
|
Single transverse palmar crease, Hallux valgus, Low anterior hairline, Brachydactyly |
OMIM:615314 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of the hand, Uncombable hair, Brachydactyly, Sparse hair, Short 5th metacarpal |
ORPHA:1264 |
| Sillence Syndrome |
|
Short finger, Chess-pawn distal phalanges, Large tarsal bones, Abnormal proximal phalanx morpholo... |
ORPHA:3168 |
| Joubert Syndrome 15 |
|
Exencephaly |
OMIM:614464 |
| Charlie M Syndrome |
|
Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndactyly, Split hand, Brachydactyly |
ORPHA:1406 |
| Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures |
|
Sparse lateral eyebrow, High anterior hairline, Brachydactyly |
OMIM:618879 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Limited elbow extension, Type E brachydactyly, Irregular epiphyses, Delay... |
ORPHA:1856 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Clinodactyly, Syndactyly, Brachydactyly |
OMIM:610023 |
| Summitt Syndrome |
|
Short 4th metacarpal, Genu valgum, Clinodactyly of the 5th finger, Finger syndactyly, Short palm,... |
ORPHA:3210 |
| Acrodysplasia Scoliosis |
|
Brachydactyly |
ORPHA:2956 |
| Multiple Synostoses Syndrome 4 |
|
Overlapping toe, Tarsal synostosis, Brachydactyly |
OMIM:617898 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Osteoarthritis of the elbow, Abnormality of the wrist, Abnormal femoral head morphology, Brachyte... |
ORPHA:2619 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... |
OMIM:609441 |
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Genu valgum, Epiphyseal dysplasia, Short phalanx of finger, Brachydactyly, Coxa valga |
OMIM:132450 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Abnormal pelvic girdle bone morphology, Micromelia, Camptodactyly of finger, Brachydactyly, Ulnar... |
ORPHA:2928 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Fibular hypoplasia, Genu valgum, Fixed elbow flexion, Rhizomelia, Small epiphyses, Delayed epiphy... |
ORPHA:166016 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Flattened humeral heads, Reduced proximal interphalangeal joint space, Flat capital femoral epiph... |
ORPHA:166011 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Delayed ossification of carpal bones, Short femoral neck, Brachydactyly |
OMIM:618392 |
| Hypochondroplasia |
|
Limited elbow extension, Flared metaphysis, Short long bone, Trident hand, Short femoral neck, Br... |
OMIM:146000 |
| Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... |
OMIM:607778 |
| Heart-Hand Syndrome, Slovenian Type |
|
Brachydactyly |
ORPHA:168796 |
| Bardet-Biedl Syndrome 4 |
|
Polydactyly, Syndactyly, Brachydactyly |
OMIM:615982 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Limited elbow extension, Capitate-hamate fusion, Genu valgum, Irregular epiphyses of the metacarp... |
OMIM:614078 |
| Terminal Osseous Dysplasia |
|
Mesomelic arm shortening, Abnormal hand bone ossification, Camptodactyly of toe, Camptodactyly of... |
OMIM:300244 |
| Woolly Hair Nevus |
|
Woolly scalp hair, Curly hair, Congenital posterior occipital alopecia, Patchy hypopigmentation o... |
ORPHA:79414 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... |
OMIM:200700 |
| Carpenter Syndrome |
|
Polydactyly, Genu valgum, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Syndactyly,... |
ORPHA:65759 |
| Jeune Syndrome |
|
Abnormal metaphysis morphology, Postaxial hand polydactyly, Abnormal pelvic girdle bone morpholog... |
ORPHA:474 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Genu valgum, Rhizomelia, Deformed humeral heads, Short metacarpal, Coxa vara, Deviation of finger... |
ORPHA:2831 |
| Muenke Syndrome |
|
Capitate-hamate fusion, Radial deviation of finger, Cone-shaped epiphyses of the phalanges of the... |
OMIM:602849 |
| Metatropic Dysplasia |
|
Narrow greater sciatic notch, Short finger, Caudal appendage, Dumbbell-shaped metaphyses, Flared ... |
OMIM:156530 |
| Anauxetic Dysplasia 2 |
|
Cubitus valgus, Hypoplasia of the femoral head, Coxa vara, Hypoplastic iliac body, Metaphyseal dy... |
OMIM:617396 |
| Brachydactyly, Type B1 |
|
Aplasia/Hypoplasia of the distal phalanges of the hand, Short long bone, Camptodactyly, Type B br... |
OMIM:113000 |
| Rhizomelic Syndrome, Urbach Type |
|
Rhizomelia, Triphalangeal thumb, Abnormality of the elbow, Abnormal hair quantity, Abnormality of... |
ORPHA:3098 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Short metacarpal, Broad femoral neck, Abnormal forearm bone morphology, Contracture of the proxim... |
ORPHA:93307 |
| Cornelia De Lange Syndrome 2 |
|
Limited elbow movement, Proximal placement of thumb, Highly arched eyebrow, Hirsutism, Short foot... |
OMIM:300590 |
| Greig Cephalopolysyndactyly Syndrome |
|
1-3 toe syndactyly, Y-shaped metatarsals, Hirsutism, Postaxial hand polydactyly, Y-shaped metacar... |
OMIM:175700 |
| Leri Pleonosteosis |
|
Abnormal metaphysis morphology, Cubitus valgus, Abnormal metacarpal morphology, Abnormal finger m... |
ORPHA:2900 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Highly arched eyebrow, Short metacarpal, S... |
OMIM:605282 |
| Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome |
|
Short distal phalanx of finger, Brachytelomesophalangy |
ORPHA:1547 |
| Pseudoachondroplasia |
|
Short long bone, Short metacarpal, Metaphyseal irregularity, Short distal phalanx of finger, Genu... |
OMIM:177170 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Short distal phalanx of finger, Hypoplastic iliac wing, Brachydactyly, Hip dysplasia |
ORPHA:1858 |
| Nicolaides-Baraitser Syndrome |
|
Broad distal phalanx of finger, Abnormal metacarpal morphology, Curly eyelashes, Sandal gap, High... |
ORPHA:3051 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Short finger, Cone-shaped epiphyses of the middle phalanges of the hand, Short metatarsal, Short ... |
OMIM:190351 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
High anterior hairline, Single transverse palmar crease, Sparse scalp hair, Brachydactyly, Adduct... |
OMIM:620062 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Cam... |
ORPHA:88630 |
| Phenobarbital Embryopathy |
|
Aplasia/Hypoplasia of fingers, Brachydactyly |
ORPHA:1919 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Gastroschisis, Anencephaly, Ectopic anus, Spina bifida, Cleft palate, Ventricular septal defect, ... |
ORPHA:2476 |
| Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Broad hallux, Short thumb, Brachydactyly |
OMIM:165800 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Broad finger, Short phalanx of finger, Thick eyebrow, Brachydactyly, Widow's peak, Clinodactyly, ... |
OMIM:614684 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Cubitus valgus, Short metatarsal, Short metacarpal, Broad metacarpals, Broad thumb, Interphalange... |
OMIM:151200 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Acromesomelia, Bowing of the long bones, Brachydactyly |
ORPHA:40 |
| Desbuquois Dysplasia 1 |
|
Sandal gap, Flat acetabular roof, Broad femoral neck, Bifid distal phalanx of the thumb, Triangul... |
OMIM:251450 |
| Aminopterin Syndrome Sine Aminopterin |
|
Highly arched eyebrow, Arachnodactyly, Rudimentary postaxial polydactyly of hands, Syndactyly, Br... |
OMIM:600325 |
| Multiple Synostoses Syndrome 1 |
|
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Sho... |
OMIM:186500 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Flat acetabular... |
OMIM:617102 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Complete duplication of the middle phalanx of the 3rd finger, Radial deviation of finger, Tarsal ... |
ORPHA:363417 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Thick eyebrow, Brachy... |
ORPHA:444002 |
| Satoyoshi Syndrome |
|
Genu valgum, Osteolytic defects of the phalanges of the hand, Short metatarsal, Short metacarpal,... |
OMIM:600705 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Bilateral single transverse palmar creases, Abnormal thumb morphology, Abnormality of the wrist, ... |
ORPHA:2511 |
| Mesomelia-Synostoses Syndrome |
|
Abnormality of the hand, Abnormal femur morphology, Abnormal tibia morphology, Abnormal metacarpa... |
ORPHA:2496 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Narrow greater sciatic notch, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling,... |
OMIM:184250 |
| Hand-Foot-Genital Syndrome |
|
Clinodactyly of the 5th finger, Proximal placement of thumb, Short first metatarsal, Short hallux... |
OMIM:140000 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Polydactyly, Short long bone, Brachydactyly |
OMIM:613819 |
| Craniofrontonasal Dysplasia |
|
Clinodactyly of the 5th finger, Sandal gap, Finger syndactyly, Abnormality of hair texture, Wooll... |
ORPHA:1520 |
| Waardenburg Syndrome, Type 3 |
|
Premature graying of hair, Scapular winging, Synophrys, White forelock, Cutaneous finger syndacty... |
OMIM:148820 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Short greater sciatic notch, Flat acetabular roof, Flared iliac ... |
ORPHA:93314 |
| Alopecia-Intellectual Disability Syndrome |
|
Split hand, Sparse scalp hair, Sparse body hair, Brachydactyly, Aplasia/Hypoplasia of the eyebrow... |
ORPHA:2850 |
| Acrocephalopolydactyly |
|
Short long bone, Limb undergrowth, Brachydactyly |
ORPHA:221054 |
| Cranioectodermal Dysplasia |
|
Abnormal metaphysis morphology, Rhizomelia, Clinodactyly of the 5th finger, Abnormal diaphysis mo... |
ORPHA:1515 |
| Potocki-Shaffer Syndrome |
|
Sparse lateral eyebrow, Single transverse palmar crease, 2-5 finger cutaneous syndactyly, Brachyd... |
OMIM:601224 |
| Odontochondrodysplasia 1 |
|
Irregular epiphyses, Small epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Metaphy... |
OMIM:184260 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Short middle phalanx of finger, Brachydactyly |
ORPHA:1436 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Carpal bone hypoplasia, Genu valgum, Metaphyseal cupping, Narrow iliac wing, Short long bone, Fla... |
OMIM:250420 |
| Microcephaly, Short Stature, And Limb Abnormalities |
|
Hypoplasia of the radius, Clinodactyly of the 5th finger, Patellar hypoplasia, Dislocated radial ... |
OMIM:617604 |
| Erythrokeratodermia Variabilis |
|
Abnormal hair morphology, Patchy palmoplantar hyperkeratosis, Generalized hirsutism, Brachydactyl... |
ORPHA:317 |
| Dermatoosteolysis, Kirghizian Type |
|
Abnormal metaphysis morphology, Abnormality of the hand, Dystrophic fingernails, Abnormality of t... |
ORPHA:1657 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Rhizomelia, Femoral bowing, Micromelia, Dumbbell-shaped long bone, Metaphyseal widening, Brachyda... |
ORPHA:440354 |
| Pelviscapular Dysplasia |
|
Abnormality of the joint spaces of the elbow, Elbow flexion contracture, Hypoplastic ilia, Low po... |
ORPHA:93333 |
| Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Brachydactyly |
OMIM:617169 |
| Anauxetic Dysplasia 3 |
|
High anterior hairline, Hip subluxation, Genu valgum, Broad eyebrow, Broad middle phalanx of fing... |
OMIM:618853 |
| Intellectual Developmental Disorder, Autosomal Dominant 59 |
|
Highly arched eyebrow, Short palm, Short foot, Brachydactyly |
OMIM:618522 |
| Chromosome 15Q26-Qter Deletion Syndrome |
|
Talipes equinovarus, Short middle phalanx of finger, Brachydactyly |
OMIM:612626 |
| Bardet-Biedl Syndrome 9 |
|
Polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Syndactyly, Brachydactyly, Postax... |
OMIM:615986 |
| Non-Distal Deletion 10Q |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Synophrys, Brachydact... |
ORPHA:1581 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Deep palmar crease, Clinodactyly of the 5th finger, Highly arched eyebrow, Long eyelashes, Syndac... |
OMIM:619451 |
| Hoxha-Aliu Syndrome |
|
Contracture of the proximal interphalangeal joint of the 4th finger, Highly arched eyebrow, Absen... |
OMIM:620662 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Small hand, Cone-shaped epiphyses of the phalanges of the hand, Brachydactyly, Delayed epiphyseal... |
OMIM:618618 |
| Lowry-Wood Syndrome |
|
Abnormality of nail color, Irregular epiphyses, Dislocated radial head, Coxa vara, Epiphyseal dys... |
ORPHA:1824 |
| Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Clinodactyly of the 5th finger, Brachydactyly |
OMIM:244600 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Red hair, Short metatarsal, Short metacarpal, Short phalanx of finger, Brachydactyly, Advanced os... |
OMIM:614613 |
| Abruzzo-Erickson Syndrome |
|
Short toe, Brachydactyly, Radioulnar synostosis, Ulnar deviation of finger, Toe syndactyly |
ORPHA:921 |
| Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Cubitus valgus, Facial hirsutism, Curly eyelashes, Abnormal metatarsal morphology, Short long bon... |
ORPHA:163654 |
| Temtamy Syndrome |
|
Short toe, Brachydactyly, Clinodactyly of the 5th finger, Genu varum |
ORPHA:1777 |
| Moebius Syndrome |
|
Radial deviation of finger, Split hand, Abnormal pelvic girdle bone morphology, Camptodactyly, Sh... |
OMIM:157900 |
| Roifman Syndrome |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Broad femoral head, I... |
ORPHA:353298 |
| Ruvalcaba Syndrome |
|
Clinodactyly of the 5th finger, Proximal placement of thumb, Abnormal vertebral epiphysis morphol... |
ORPHA:3121 |
| Bardet-Biedl Syndrome 3 |
|
Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
| Roifman Syndrome |
|
Clinodactyly of the 5th finger, Single transverse palmar crease, Short metacarpal, Hip contractur... |
OMIM:616651 |
| Acrodysostosis |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metaphysis morphology, Abnormal femur ... |
ORPHA:950 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Carpal bone hypoplasia, Cubitus valgus, Tapered phalanx of finger, Curly eyelashes, Small epiphys... |
OMIM:611717 |
| Frontonasal Dysplasia 1 |
|
Joint contracture of the hand, Radial deviation of finger, Pectoral muscle hypoplasia/aplasia, Po... |
OMIM:136760 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Clinodactyly of the 5th finger, Down-sloping shoulders, Brachydactyly, Synophrys |
ORPHA:1390 |
| Urban-Rogers-Meyer Syndrome |
|
Flexion contracture of toe, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Campto... |
ORPHA:3409 |
| Orofaciodigital Syndrome Iv |
|
Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Brachydactyly, Toe synda... |
OMIM:258860 |
| Lowry-Wood Syndrome |
|
Limited elbow extension, Clinodactyly of the 5th finger, Irregular epiphyses, Small epiphyses, El... |
OMIM:226960 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Short long bone, Coarse metaphyseal trabecularization, Metaphyseal widening, Limb undergrowth, Br... |
OMIM:618961 |
| Laurence-Moon Syndrome |
|
Bilateral single transverse palmar creases, Hand polydactyly, Finger syndactyly, Brachydactyly |
ORPHA:2377 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Clinodactyly of the 5th finger, Clinodactyly of the 2nd finger, Hirsutism, Broad thumb, Short pal... |
OMIM:620073 |
| Atelosteogenesis Type Ii |
|
Sandal gap, Short metacarpal, Short lower limbs, Dumbbell-shaped femur, Rhizomelia, Elbow flexion... |
ORPHA:56304 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Short long bone, Brachydactyly |
OMIM:615633 |
| Chst3-Related Skeletal Dysplasia |
|
Genu valgum, Rhizomelia, Irregular epiphyses, Small epiphyses, Cubitus valgus, Highly arched eyeb... |
ORPHA:263463 |
| Thanatophoric Dysplasia, Type Ii |
|
Flared metaphysis, Short greater sciatic notch, Hypoplastic ilia, Micromelia, Brachydactyly, Meta... |
OMIM:187601 |
| Dyggve-Melchior-Clausen Disease |
|
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... |
OMIM:223800 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Short foot, Brachydactyly, Widow's peak |
OMIM:266265 |
| Poland Syndrome |
|
Unilateral brachydactyly, Unilateral oligodactyly, Hypoplasia of deltoid muscle, Syndactyly |
OMIM:173800 |
| Greenberg Dysplasia |
|
Abnormal pelvis bone ossification, Rhizomelia, Brachydactyly, Micromelia |
ORPHA:1426 |
| Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome |
|
Sparse scalp hair, Arachnodactyly, Brachydactyly, Palmoplantar keratoderma, Cone-shaped epiphysis |
ORPHA:2824 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Cubitus valgus, Highly arched eyebrow, Scapular winging, Synophrys, Camptodactyly of finger, Shor... |
ORPHA:1327 |
| Pfeiffer Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Synostosis of carpal bones, Broad thumb, Symph... |
ORPHA:710 |
| Oculomaxillofacial Dysostosis |
|
Sparse or absent eyelashes, Abnormal eyelash morphology, Abnormality of the humerus, Camptodactyl... |
ORPHA:1794 |
| Pseudohypoparathyroidism, Type Ib |
|
Short metacarpal, Brachydactyly |
OMIM:603233 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Short finger, Irregular epiphyses, Rhizomelia, Broad thumb, Mesomelia, Metaphyseal widening, Brac... |
OMIM:612813 |
| Anauxetic Dysplasia 1 |
|
Limited elbow extension, Short finger, Rhizomelia, Small epiphyses, Flared metaphysis, Delayed os... |
OMIM:607095 |
| Marinesco-Sjögren Syndrome |
|
Abnormal metacarpal morphology, Abnormal finger morphology, Short palm, Brachydactyly, Hip dyspla... |
ORPHA:559 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Limited elbow extension, Clinodactyly of the 5th finger, Ulnar bowing, Flared metaphysis, Slender... |
OMIM:210720 |
| Achondroplasia |
|
Narrow greater sciatic notch, Limited elbow extension, Short proximal phalanx of finger, Rhizomel... |
ORPHA:15 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polydactyly, Short long bone, Flat acetabular roof, Bowing of the long bones, Micromelia, Postaxi... |
OMIM:614091 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Short finger, 2-3 toe syndactyly, Tapered finger, Long fingers, Broad hallux, Short toe, Brachyda... |
OMIM:618659 |
| Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Clinodactyly of the 5th finger, Thick hair, Synophrys, Horizontal eyebrow, Long eyelashes, Thick ... |
OMIM:618381 |
| Schaaf-Yang Syndrome |
|
Rocker bottom foot, Tapered finger, Short foot, Camptodactyly, Narrow palm, Thick eyebrow, Brachy... |
OMIM:615547 |
| Otospondylomegaepiphyseal Dysplasia |
|
Flared femoral metaphysis, Fibular bowing, Abnormal long bone morphology, Sandal gap, Abnormal il... |
ORPHA:1427 |
| Cardiospondylocarpofacial Syndrome |
|
Short palm, Synostosis of carpal bones, Brachydactyly |
ORPHA:3238 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Short iliac bones, Rhizomelia, Broad long bone diaphyses, Acetabular spurs, Metaphyseal widening,... |
OMIM:614376 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Rocker bottom foot, Abnormal hip bone morphology, Short long bone, Short metacarpal, Prominent ca... |
ORPHA:457395 |
| Weill-Marchesani Syndrome |
|
Short thumb, Brachydactyly |
ORPHA:3449 |
| Eiken Syndrome |
|
Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a... |
OMIM:600002 |
| Progressive Osseous Heteroplasia |
|
Brachydactyly |
ORPHA:2762 |
| Diamond-Blackfan Anemia 21 |
|
Genu valgum, Cubitus valgus, Sandal gap, Clinodactyly of the thumb, Synophrys, Horizontal eyebrow... |
OMIM:620072 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Short finger, Small epiphyses, Flared iliac wing, Coxa vara, Metaphyseal cupping of metacarpals, ... |
OMIM:300232 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Dislocated radial head, Limited elbow extension and supination, Synophrys, Short thumb, Brachydac... |
ORPHA:401935 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Narrow greater sciatic notch, Rhizomelia, Flared metaphysis, Short long bone, Metaphyseal spurs, ... |
ORPHA:85167 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Rhizomelia, Severe limb shortening, Metaphyseal cupping, Hypoplastic pubic bone, Short long bone,... |
OMIM:151210 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l... |
OMIM:300106 |
| Pseudopseudohypoparathyroidism |
|
Short metacarpal, Short metatarsal, Brachydactyly |
OMIM:612463 |
| 20P13 Microdeletion Syndrome |
|
Polydactyly, Highly arched eyebrow, Finger syndactyly, Synophrys, Brachydactyly, Clinodactyly |
ORPHA:313781 |
| Carpenter Syndrome 1 |
|
Genu valgum, Clinodactyly of the 5th finger, Pseudoepiphyses of the proximal phalanges of the han... |
OMIM:201000 |
| Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
|
Limited elbow extension, Diaphyseal undertubulation, Clinodactyly of the 5th finger, Proximal pla... |
OMIM:620663 |
| Trichorhinophalangeal Syndrome, Type I |
|
Cone-shaped epiphyses of the middle phalanges of the hand, Leukonychia, Ivory epiphyses of the di... |
OMIM:190350 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Split hand, Brachydactyly, Micromelia |
ORPHA:2145 |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Genu valgum, Abnormal metacarpal morphology, Synophrys, Brachydactyly, Short distal phalanx of fi... |
ORPHA:1295 |
| Kury-Isidor Syndrome |
|
Rocker bottom foot, Proximal placement of thumb, Talipes equinovarus, Finger syndactyly, Brachyda... |
OMIM:619762 |
| Cono-Spondylar Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Epiphyseal dysplasia, Short nail, Short humer... |
ORPHA:420794 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal epiphysis morphology, Brachydactyly |
ORPHA:2643 |
| Schneckenbecken Dysplasia |
|
Snail-like ilia, Short long bone, Flat acetabular roof, Dumbbell-shaped long bone, Bilateral tali... |
OMIM:269250 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Camptodactyly of finger, Brachydactyly, Long eyelashes |
ORPHA:2863 |
| Pde4D Haploinsufficiency Syndrome |
|
Short metatarsal, Upper limb undergrowth, Bilateral coxa valga, Short metacarpal, Broad metatarsa... |
ORPHA:439822 |
| 16P12.1P12.3 Triplication Syndrome |
|
2-3 toe syndactyly, Prominent fingertip pads, Thick eyebrow, Brachydactyly, Short 5th finger, Hal... |
ORPHA:485405 |
| Spastic Paraplegia 20, Autosomal Recessive |
|
Hammertoe, Short foot, Camptodactyly, Ulnar deviation of the hand, Brachydactyly, Clinodactyly |
OMIM:275900 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Sandal gap, Prominent fingertip pads, Camptodactyly, Long eyelashes, Broad thumb, Mesomelia, Broa... |
OMIM:618529 |
| Acrofacial Dysostosis, Catania Type |
|
Short palm, Single transverse palmar crease, Brachydactyly, Widow's peak |
OMIM:101805 |
| Hall-Riggs Syndrome |
|
Abnormal metaphysis morphology, Thick hair, Slow-growing hair, Limb undergrowth, Brachydactyly, A... |
ORPHA:2107 |
| Orofaciodigital Syndrome Ii |
|
Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Flared metaphysis, Postaxial han... |
OMIM:252100 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Limited elbow extension, Genu valgum, Monkey wrench femoral neck, Clinodactyly of the 2nd finger,... |
OMIM:618870 |
| Joubert Syndrome 10 |
|
Brachydactyly, Hirsutism, Postaxial hand polydactyly, Postaxial foot polydactyly |
OMIM:300804 |
| Coffin-Siris Syndrome 2 |
|
Sandal gap, Hirsutism, Sparse scalp hair, Long eyelashes, Thick eyebrow, Low anterior hairline, B... |
OMIM:614607 |
| Weill-Marchesani Syndrome 3 |
|
Brachydactyly |
OMIM:614819 |
| Cardioacrofacial Dysplasia 2 |
|
Genu valgum, Clinodactyly of the 5th finger, Clubbing, Postaxial hand polydactyly, Limb undergrow... |
OMIM:619143 |
| Bardet-Biedl Syndrome 17 |
|
Polydactyly, Mesoaxial polydactyly, Postaxial hand polydactyly, Short fourth metatarsal, Brachyda... |
OMIM:615994 |
| Acrofrontofacionasal Dysostosis |
|
Abnormal epiphysis morphology, Micromelia, Broad thumb, Camptodactyly of finger, Brachydactyly, A... |
ORPHA:1784 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Sparse scalp hair, Low posterior hairline, Brachydactyly, Aplasia/Hypoplasia of the eyebrow, Abno... |
ORPHA:2701 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Short long bone, Femoral bowing... |
OMIM:613091 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... |
OMIM:609945 |
| Adams-Oliver Syndrome 6 |
|
Foot oligodactyly, Syndactyly, Brachydactyly |
OMIM:616589 |
| Larsen Syndrome |
|
Broad distal phalanx of finger, Finger syndactyly, Abnormal epiphysis morphology, Broad thumb, Sh... |
ORPHA:503 |
| Bent Bone Dysplasia Syndrome 1 |
|
Hypoplastic pubic bone, Short clavicles, Hirsutism, Brachydactyly, Bent long bone |
OMIM:614592 |
| Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Camptodactyly, Hypertrichosis, Brachydactyly, Clinodactyly, Talipes equinovarus |
OMIM:616354 |
| Müllerian Aplasia And Hyperandrogenism |
|
High anterior hairline, Frontal balding, Cubitus valgus, Facial hirsutism, Hirsutism, Synophrys, ... |
ORPHA:247768 |
| Opsismodysplasia |
|
Abnormal metaphysis morphology, Hypoplastic pubic bone, Abnormal epiphysis morphology, Hypoplasti... |
ORPHA:2746 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Alopecia, Synostosis of carpal bones, Short mi... |
ORPHA:1005 |
| Suleiman-El-Hattab Syndrome |
|
Polydactyly, Highly arched eyebrow, Single transverse palmar crease, Hirsutism, Synophrys, Fronta... |
OMIM:618950 |
| Al-Raqad Syndrome |
|
Brachydactyly, Sandal gap |
OMIM:616459 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Brachydactyly |
OMIM:610498 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Narrow greater sciatic notch, Short finger, Rhizomelia, Cone-shaped epiphyses of the phalanges of... |
OMIM:250220 |
| 2Q37 Microdeletion Syndrome |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Highly arched eyebrow... |
ORPHA:1001 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Preaxial polydactyly, Ulnar bowing, Single transverse palmar crease, 2-3 toe syndactyly, Micromel... |
OMIM:617866 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Hypoplasia of the radius, Hypoplastic ilia, Micromelia, Postaxial polydactyly, Syndactyly, Brachy... |
OMIM:617895 |
| 15Q24 Microdeletion Syndrome |
|
Abnormal thumb morphology, High anterior hairline, Proximal placement of thumb, Broad eyebrow, Ab... |
ORPHA:94065 |
| 2Q31.1 Microdeletion Syndrome |
|
Abnormal fibula morphology, Abnormal tibia morphology, Abnormal metacarpal morphology, Sandal gap... |
ORPHA:251014 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Brachydactyly, Single transverse palmar crease, Clinodactyly, Camptodactyly |
OMIM:613604 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Clinodactyly of the 5th finger, Single transverse palmar crease, 2-3 toe syndactyly, Brachydactyl... |
OMIM:236500 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Synophrys, Brachydactyly, Talipes equinovarus |
ORPHA:3306 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Broad thumb, Mesomelia, Rhizomelia, Brachydactyly |
ORPHA:171866 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Clinodactyly of the 5th finger, Sandal gap, Single transverse palmar crease, 2-3 toe syndactyly, ... |
OMIM:617061 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Exencephaly, Encephalocele |
ORPHA:2211 |
| Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Brachydactyly |
OMIM:234250 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Limited elbow extension, Short 4th metacarpal, Genu valgum, Rhizomelia, Bowed humerus, Metaphysea... |
OMIM:618019 |
| Frank-Ter Haar Syndrome |
|
Camptodactyly of finger, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Brachyda... |
ORPHA:137834 |
| Rubinstein-Taybi Syndrome |
|
Clinodactyly of the 5th finger, Highly arched eyebrow, Finger syndactyly, Abnormal distal phalanx... |
ORPHA:783 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Preaxial polydactyly, Short long bone, Femoral bowing, Acetabular spurs, Postaxial polydactyly, S... |
OMIM:615503 |
| Thanatophoric Dysplasia |
|
Abnormal metaphysis morphology, Abnormal ilium morphology, Abnormal sacroiliac joint morphology, ... |
ORPHA:2655 |
| Aarskog-Scott Syndrome |
|
Radial deviation of finger, Hyperextensibility of the finger joints, Single transverse palmar cre... |
OMIM:305400 |
| Thanatophoric Dysplasia Type 1 |
|
Abnormal metaphysis morphology, Short greater sciatic notch, Femoral bowing, Split hand, Bowing o... |
ORPHA:1860 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Short toe, Brachydactyly |
ORPHA:3085 |
| Specific Granule Deficiency 2 |
|
Brachydactyly, Hirsutism, Sandal gap |
OMIM:617475 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Sandal gap, Single transverse palmar crease, Micromelia, Thick eyebrow, Syndactyly, Broad hallux,... |
OMIM:614800 |
| Laron Syndrome |
|
Abnormality of the elbow, Short toe, Brachydactyly |
ORPHA:633 |
| Acrofacial Dysostosis, Catania Type |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Finger syndactyly, Sh... |
ORPHA:1786 |
| Lymphedema-Hypoparathyroidism Syndrome |
|
Brachydactyly, Increased carrying angle, Hypertrichosis |
OMIM:247410 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Proximal placement of thumb, Sparse scalp hair, Sparse eyebrow, Syndactyly, Brachydactyly, Short ... |
OMIM:615789 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Narrow greater sciatic notch, Short finger, Rhizomelia, Flared metaphysis, Metaphyseal cupping, F... |
OMIM:608940 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Genu valgum, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Postaxial hand ... |
OMIM:615630 |
| Jansen-De Vries Syndrome |
|
Short foot, Brachydactyly, Small hand |
OMIM:617450 |
| Cleidocranial Dysplasia |
|
Abnormal thumb morphology, Dystrophic fingernails, Genu valgum, Clinodactyly of the 5th finger, A... |
ORPHA:1452 |
| Chromosome 2Q37 Deletion Syndrome |
|
Type E brachydactyly, Highly arched eyebrow, Short metacarpal, Short fourth metatarsal, Short pha... |
OMIM:600430 |
| Vitamin K Antagonist Embryofetopathy |
|
Short distal phalanx of finger, Brachydactyly, Epiphyseal stippling |
ORPHA:1914 |
| Fountain Syndrome |
|
Abnormal metacarpal morphology, Synophrys, Large hands, Thick eyebrow, Coarse metaphyseal trabecu... |
ORPHA:3219 |
| Temtamy Syndrome |
|
Highly arched eyebrow, Short 2nd toe, Brachydactyly, Talipes equinovarus, Hip dislocation |
OMIM:218340 |
| Atelosteogenesis, Type I |
|
Fibular aplasia, Short finger, Rhizomelia, Short metatarsal, Multinucleated giant chondrocytes in... |
OMIM:108720 |
| Lujan-Fryns Syndrome |
|
Camptodactyly of finger, Arachnodactyly, Brachydactyly |
ORPHA:776 |
| Trichorhinophalangeal Syndrome Type 2 |
|
Bilateral single transverse palmar creases, Genu valgum, Cone-shaped epiphyses of the phalanges o... |
ORPHA:502 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Sandal gap, Joint contracture of the 5th finger, 2-3 toe syndactyly, Joint contracture of the 4th... |
OMIM:618914 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Brachydactyly, Short foot, Sandal gap, Small hand |
OMIM:300354 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Bilateral single transverse palmar creases, Broad thumb, Large hands, Abnormal hair pattern, Brac... |
ORPHA:1770 |
| Achondroplasia |
|
Narrow greater sciatic notch, Limited elbow extension, Rhizomelia, Ulnar bowing, Flared metaphysi... |
OMIM:100800 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Breast hypoplasia, Rhizomelia, Short metatarsal, Short metacarpal, Short foot, Hypoplastic pelvis... |
OMIM:614813 |
| Alg6-Cdg |
|
Shortening of all distal phalanges of the fingers, Brachydactyly |
ORPHA:79320 |
| Stuve-Wiedemann Syndrome 1 |
|
Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Sparse hair... |
OMIM:601559 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Posteriorly placed anus, Myelomeningocele, Pulmonic stenosis, Cardiomegaly, Right atrial isomeris... |
OMIM:306955 |
| Tonne-Kalscheuer Syndrome |
|
Broad thumb, Fine hair, Brachydactyly |
OMIM:300978 |
| Craniorachischisis |
|
Sirenomelia, Anencephaly, Myelomeningocele, Anal atresia, Omphalocele, Spinal dysraphism, Cervica... |
ORPHA:63260 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Broad distal phalanx of finger, Patchy alopecia, Broad thumb, Brachydactyly, Sparse hair |
OMIM:617763 |
| Feingold Syndrome |
|
Clinodactyly of the 5th finger, Deviation of the 2nd finger, Brachydactyly, Toe syndactyly, Hallu... |
ORPHA:1305 |
| Adams-Oliver Syndrome |
|
Abnormal metacarpal morphology, Finger syndactyly, Absent toe, Abnormality of the upper limb, Spl... |
ORPHA:974 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Bilateral single transverse palmar creases, Highly arched eyebrow, Camptodactyly of finger, Abnor... |
ORPHA:2083 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Narrow greater sciatic notch, Dislocated radial head, Single transverse palmar crease, Delayed os... |
OMIM:617425 |
| Coffin-Siris Syndrome 6 |
|
Clinodactyly, Brachydactyly |
OMIM:617808 |
| Microcephaly-Capillary Malformation Syndrome |
|
Short distal phalanx of finger, Abnormal hair whorl, Clinodactyly, Brachydactyly |
OMIM:614261 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Clinodactyly of the 5th finger, Highly arched eyebrow, Single transverse palmar crease, 2-3 toe s... |
OMIM:614701 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Short distal phalanx of finger, Generalized hirsutism, Brachydactyly |
ORPHA:1563 |
| Chitayat Syndrome |
|
Hallux valgus, Brachydactyly |
OMIM:617180 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Abnormal metacarpal morphology, Brachydactyly |
ORPHA:93262 |
| Roberts Syndrome |
|
Bilateral single transverse palmar creases, Hypoplasia of the radius, Radial deviation of finger,... |
ORPHA:3103 |
| Codas Syndrome |
|
Abnormal pelvic girdle bone morphology, Short metacarpal, Congenital hip dislocation, Brachydacty... |
ORPHA:1458 |
| Oculodentodigital Dysplasia |
|
Abnormal metaphysis morphology, Palmoplantar keratoderma, Clinodactyly of the 5th finger, Abnorma... |
ORPHA:2710 |
| Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Sandal gap, 2-3 toe syndactyly, Postaxial polydactyly, Short nail, 2-4 toe syndactyly... |
OMIM:614099 |
| Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
High anterior hairline, Clinodactyly of the 5th finger, Short distal phalanx of toe, Thick eyebro... |
ORPHA:1292 |
| Smith-Magenis Syndrome |
|
Synophrys, Short palm, Abnormal forearm morphology, Brachydactyly, Broad palm |
OMIM:182290 |
| Pseudohypoparathyroidism, Type Ia |
|
Short finger, Short metatarsal, Short metacarpal, Short toe, Brachydactyly |
OMIM:103580 |
| Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies |
|
Medial flaring of the eyebrow, Short femur, Synophrys, Symphalangism of the thumb, Increased femo... |
OMIM:620494 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Short distal phalanx of finger, Brachydactyly, Clinodactyly of the 5th finger, Coxa valga |
ORPHA:2163 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Clinodactyly of the 5th toe, Clinodactyly of the 5th finger, Short metatarsal, Slender long bone,... |
OMIM:170390 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Limited elbow movement, Clinodactyly of the 5th finger, Proximal placement of thumb, Thick hair, ... |
OMIM:610759 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
High anterior hairline, Short metacarpal, Sparse eyelashes, Sparse eyebrow, Metaphyseal dysplasia... |
OMIM:250410 |
| Orofaciodigital Syndrome Vi |
|
Fibular aplasia, Radial deviation of finger, Tibial bowing, Postaxial hand polydactyly, Central Y... |
OMIM:277170 |
| Moebius Syndrome |
|
Aplasia of the pectoralis major muscle, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the... |
ORPHA:570 |
| Hypoglossia-Hypodactyly Syndrome |
|
Aplasia/Hypoplasia of fingers, Finger syndactyly, Adactyly, Split hand, Upper limb phocomelia, Br... |
ORPHA:989 |
| Aredyld Syndrome |
|
Sparse body hair, Abnormal pelvic girdle bone morphology, Brachydactyly, Aplasia/Hypoplasia of th... |
ORPHA:1133 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Patellar hypoplasia, Brachydactyly, Short fourth metatarsal |
ORPHA:464288 |
| Corneodermatoosseous Syndrome |
|
Abnormality of the hand, Abnormal metacarpal morphology, Abnormal finger morphology, Short palm, ... |
ORPHA:3194 |
| Coffin-Siris Syndrome 7 |
|
Thick eyebrow, Sparse scalp hair, Brachydactyly, Clinodactyly of the 5th finger |
OMIM:618027 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Sandal gap, Scarring alopecia of scalp, 3-4 toe syndactyly, Broad hallux, Brachydactyly, Clinodac... |
OMIM:618727 |
| Osteoglophonic Dysplasia |
|
Broad metacarpals, Rhizomelia, Short metatarsal, Short metacarpal, Broad metatarsal, Bowing of th... |
OMIM:166250 |
| Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Flared metaphysis, Mesomelic/rhizomelic limb shortening, Hypoplastic... |
ORPHA:2347 |
| Atelosteogenesis Type I |
|
Abnormal fibula morphology, Rhizomelia, Short long bone, Limb undergrowth, Brachydactyly, Abnorma... |
ORPHA:1190 |
| Distal Deletion 10Q |
|
2-3 toe cutaneous syndactyly, Clinodactyly of the 5th finger, Short metatarsal, Sandal gap, Singl... |
ORPHA:96148 |
| Thanatophoric Dysplasia Type 2 |
|
Abnormal metaphysis morphology, Brachydactyly, Micromelia |
ORPHA:93274 |
| Endocrine-Cerebroosteodysplasia |
|
Preaxial polydactyly, Fibular bowing, Sandal gap, Hitchhiker thumb, Single transverse palmar crea... |
OMIM:612651 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Partial duplication of the phalanx of hand, Camptodactyly, Broad thumb, Partial duplication of th... |
OMIM:616331 |
| Radio-Tartaglia Syndrome |
|
High anterior hairline, Highly arched eyebrow, Hirsutism, Long eyebrows, Long eyelashes, Synophry... |
OMIM:619312 |
| Rhyns Syndrome |
|
Brachydactyly, Short long bone, Short femoral neck, Radial bowing |
OMIM:602152 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Delayed pubic bone ossification, Irregular epiphyses, Clinodactyly of the 5th finger,... |
OMIM:618162 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Absent eyelashes, Short metacarpal, Absent eyebrow, Brachydactyly, Metaphyseal chondrodysplasia, ... |
ORPHA:166035 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Brachydactyly, Sandal gap |
ORPHA:2180 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Rocker bottom foot, Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, C... |
ORPHA:488642 |
| Monosomy 18P |
|
Brachydactyly, Low posterior hairline, Alopecia |
ORPHA:1598 |
| Chromosome 17Q12 Duplication Syndrome |
|
Broad thumb, Brachydactyly |
OMIM:614526 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Fibular hypoplasia, Irregular epiphyses, Early ossification of capital fe... |
OMIM:208500 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Radial deviation of finger, Mesomelic arm shortening, Dislocated radial head, Broad thumb, Mesome... |
OMIM:268310 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Postaxial hand polydactyly, Low posterior hairline, Brachydactyly... |
ORPHA:2916 |
| Saethre-Chotzen Syndrome |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Triphalangeal thumb, ... |
ORPHA:794 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Brachydactyly, Slender long bone |
OMIM:618265 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Limited elbow extension, Genu valgum, Rhizomelia, Flat capital femoral epiphysis, Small epiphyses... |
OMIM:271510 |
| Rin2 Syndrome |
|
Hirsutism, Sparse scalp hair, Brachydactyly |
ORPHA:217335 |
| Nivelon-Nivelon-Mabille Syndrome |
|
Short phalanx of finger, Short metacarpal, Brachydactyly, Micromelia |
OMIM:600092 |
| Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Brachydactyly |
ORPHA:436245 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Rocker bottom foot, Proximal tibial and fibular fusion, Femoral bowing, Short metacarpal, Arachno... |
ORPHA:95699 |
| Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Abnormal femoral epiphysis morphology, Brachydactyly |
ORPHA:3218 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Cubitus valgus, Patchy alopecia, Large hands, Thick eyebrow, Brachydactyly, Short distal phalanx ... |
OMIM:300534 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Clinodactyly, Brachydactyly |
OMIM:618048 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Nail dystrophy, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic nipples, Camptoda... |
ORPHA:261323 |
| Grange Syndrome |
|
Finger clinodactyly, Syndactyly, Brachydactyly |
OMIM:602531 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Hypoplastic iliac wing, Micromeli... |
ORPHA:2637 |
| Adams-Oliver Syndrome 5 |
|
Dystrophic toenail, Syndactyly, Brachydactyly |
OMIM:616028 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Genu valgum, Flared metaphysis, Delayed epiphyseal ossification, Short long bone, Dislocation of ... |
OMIM:616007 |
| Craniofrontonasal Syndrome |
|
Breast hypoplasia, Clinodactyly of the 5th finger, Unilateral breast hypoplasia, Low posterior ha... |
OMIM:304110 |
| Nicolaides-Baraitser Syndrome |
|
Broad distal phalanx of finger, Sandal gap, Broad 2nd toe, Short metacarpal, Low posterior hairli... |
OMIM:601358 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Narrow greater sciatic notch, Limited elbow movement, Acetabular dysplasia, Abnormal ilium morpho... |
ORPHA:508533 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Short clavicles, Hirsutism, Steep acetabular roof, Hypoplastic ischia, Brachydactyly, Incomplete ... |
ORPHA:313855 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short metatarsal, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Epi... |
OMIM:101800 |
| Greenberg Dysplasia |
|
Diaphyseal undertubulation, Short finger, Rhizomelia, Flared metaphysis, Metaphyseal cupping, Epi... |
OMIM:215140 |
| Orofaciodigital Syndrome Type 6 |
|
Preaxial polydactyly, Mesoaxial polydactyly, Highly arched eyebrow, Central Y-shaped metacarpal, ... |
ORPHA:2754 |
| Coffin-Lowry Syndrome |
|
Broad finger, Abnormal diaphysis morphology, Narrow iliac wing, Short metacarpal, Large hands, Ps... |
ORPHA:192 |
| Smith-Magenis Syndrome |
|
Clinodactyly of the 5th finger, Synophrys, Hand polydactyly, Brachydactyly, Toe syndactyly |
ORPHA:819 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Bilateral single transverse palmar creases, Multiple carpal ossification centers, Highly arched e... |
OMIM:143095 |
| Osteoglosphonic Dysplasia |
|
Rhizomelia, Brachydactyly |
ORPHA:2645 |
| Pseudoaminopterin Syndrome |
|
Clinodactyly of the 5th toe, Limited elbow movement, Short 4th metacarpal, Hip subluxation, Clubb... |
ORPHA:221120 |
| Trisomy 9P |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:236 |
| Dysostosis, Stanescu Type |
|
Abnormal metaphysis morphology, Bowing of the long bones, Micromelia, Massively thickened long bo... |
ORPHA:1798 |
| Fibrochondrogenesis |
|
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Micromelia, Camptodactyly of finge... |
ORPHA:2021 |
| Craniosynostosis 2 |
|
Triphalangeal thumb, Brachydactyly |
OMIM:604757 |
| Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Facial hypertrichosis, Camptodactyly, Brachydactyly, Clinodactyly, Talipes equinovarus |
ORPHA:397709 |
| Trisomy 20P |
|
Abnormal hip bone morphology, Thick hair, Highly arched eyebrow, Finger syndactyly, Low posterior... |
ORPHA:261318 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Limited elbow extension, Tarsal synostosis, Clinodactyly of the 5th finger, Talipes equinovarus, ... |
OMIM:272460 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Rocker bottom foot, Breast hypoplasia, Camptodactyly, Long eyelashes, Brachydactyly, Absent axill... |
OMIM:601353 |
| Orofaciodigital Syndrome Xix |
|
Postaxial hand polydactyly, Low posterior hairline, Type A brachydactyly, Broad hallux, Toe synda... |
OMIM:620107 |
| Developmental And Epileptic Encephalopathy 95 |
|
Short 4th metacarpal, Clinodactyly of the 5th finger, Highly arched eyebrow, Single transverse pa... |
OMIM:618143 |
| Gracile Bone Dysplasia |
|
Slender long bone, Brachydactyly, Flared metaphysis |
OMIM:602361 |
| Intellectual Developmental Disorder, Autosomal Recessive 78 |
|
Cubitus valgus, Brachydactyly, Clinodactyly of the 5th finger |
OMIM:620237 |
| Cranioectodermal Dysplasia 1 |
|
Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Slow-growing hair, Single transverse ... |
OMIM:218330 |
| Campomelia, Cumming Type |
|
Clubbing of toes, Bowing of the long bones, Brachydactyly, Micromelia |
ORPHA:1318 |
| Alg8-Cdg |
|
Talipes equinovarus, Brachydactyly, Camptodactyly |
ORPHA:79325 |
| Short-Rib Thoracic Dysplasia 12 |
|
Short finger, Short long bone, Hypoplastic nipples, Short palm, Limb undergrowth, Short toe, Brac... |
OMIM:269860 |
| Poland Syndrome |
|
Finger symphalangism, Abnormality of the hand, Aplasia of the pectoralis major muscle, Aplasia/Hy... |
ORPHA:2911 |
| Pseudohypoparathyroidism, Type Ic |
|
Short metatarsal, Short metacarpal, Brachydactyly |
OMIM:612462 |
| Short Syndrome |
|
Short palm, Brachydactyly, Sparse hair, Alopecia |
ORPHA:3163 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Rhizomelic leg shortening, Early ossification of capital femoral epiphyses, Short digit, Rhizomel... |
ORPHA:397715 |
| Kabuki Syndrome 2 |
|
Highly arched eyebrow, Hirsutism, Prominent fingertip pads, Long eyelashes, Sparse lateral eyebro... |
OMIM:300867 |
| Bardet-Biedl Syndrome 1 |
|
Radial deviation of finger, Hirsutism, Postaxial hand polydactyly, Foot polydactyly, Postaxial po... |
OMIM:209900 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Short palm, Brachydactyly |
ORPHA:3217 |
| Autosomal Recessive Robinow Syndrome |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal hip bone mor... |
ORPHA:1507 |
| Sponastrime Dysplasia |
|
Short long bone, Mesomelia, Metaphyseal irregularity, Flattened humeral epiphyses, Hip dislocatio... |
ORPHA:93357 |
| Premature Aging Syndrome, Penttinen Type |
|
Slender long bone, Palmoplantar hyperkeratosis, Tibial bowing, Osteolytic defects of the distal p... |
OMIM:601812 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Proximal placement of thumb, Short palm, Syndactyly, Brachydactyly, Clinodactyly |
OMIM:217980 |
| Orofaciodigital Syndrome Type 1 |
|
Tarsal synostosis, Clinodactyly of the 5th finger, Brittle hair, Finger syndactyly, Postaxial han... |
ORPHA:2750 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Clinodactyly of the 5th finger, Hypopigmentation of hair, Finger syndactyly, Short foot... |
ORPHA:1974 |
| Dubowitz Syndrome |
|
Clinodactyly of the 5th finger, Sandal gap, Aplasia/Hypoplasia of the thumb, Sparse scalp hair, S... |
ORPHA:235 |
| Geleophysic Dysplasia 3 |
|
Limited elbow movement, Epiphyseal dysplasia, Limb undergrowth, Brachydactyly, Limited wrist move... |
OMIM:617809 |
| Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Brachydactyly, Long eyelashes, Broad lateral eyebrow |
OMIM:608624 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Short palm, Short long bone, Brachydactyly, Brittle hair |
OMIM:619184 |
| Pycnodysostosis |
|
Short finger, Rhizomelia, Hypoplastic iliac wing, Osteolytic defects of the distal phalanges of t... |
ORPHA:763 |
| 3C Syndrome |
|
Finger syndactyly, Hand polydactyly, Abnormal hip bone morphology, Brachydactyly |
ORPHA:7 |
| Occipital Horn Syndrome |
|
Abnormal fibula morphology, Humerus varus, Abnormality of the wrist, Genu valgum, Thick hair, Lar... |
ORPHA:198 |
| Distal Duplication 5Q |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Absent thumb, Brachydactyly |
ORPHA:96097 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Tapered finger, Brachydactyly |
OMIM:619680 |
| Mckusick-Kaufman Syndrome |
|
Tarsal synostosis, Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly,... |
ORPHA:2473 |
| Trisomy 8P |
|
Clinodactyly of the 5th toe, Clinodactyly of the 5th finger, Short 1st metacarpal, Clinodactyly o... |
ORPHA:264450 |
| Adnp Syndrome |
|
Polydactyly, High anterior hairline, Sandal gap, Single transverse palmar crease, Abnormal finger... |
ORPHA:404448 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Drumstick terminal phalanges, Brachydactyly |
OMIM:612938 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Bilateral single transverse palmar creases, Aplasia/hypoplasia of the femur, Abnormal metaphysis ... |
ORPHA:2636 |
| Holt-Oram Syndrome |
|
Aplasia of the pectoralis major muscle, Proximal placement of thumb, Aplasia of the 1st metacarpa... |
OMIM:142900 |
| Frontorhiny |
|
Camptodactyly of finger, Finger clinodactyly, Brachydactyly, Widow's peak |
ORPHA:391474 |
| Radio-Renal Syndrome |
|
Hypoplasia of the radius, Micromelia, Short palm, Brachydactyly, Abnormality of the elbow |
ORPHA:3015 |
| Macs Syndrome |
|
Single transverse palmar crease, Sparse eyebrow, Brachydactyly, Sparse hair, Alopecia |
OMIM:613075 |
| Cleidocranial Dysplasia 1 |
|
Delayed pubic bone ossification, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic ... |
OMIM:119600 |
| Cardiofacioneurodevelopmental Syndrome |
|
Brachydactyly, Clinodactyly of the 5th finger, Camptodactyly |
OMIM:619123 |
| Kleefstra Syndrome 1 |
|
Talipes equinovarus, Single transverse palmar crease, Brachydactyly, Synophrys |
OMIM:610253 |
| Myhre Syndrome |
|
Short finger, Radial deviation of finger, Hypoplastic iliac wing, 2-3 toe syndactyly, Short long ... |
OMIM:139210 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
High anterior hairline, Clinodactyly of the 5th finger, Sparse scalp hair, Synophrys, Sparse eyeb... |
ORPHA:477993 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Brachydactyly, Synophrys |
OMIM:620156 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Enlarged metaphyses, Femoral bowing, Bifid first metacarpal, Short metacarpal, Short humerus, Spa... |
OMIM:210710 |
| Infantile Systemic Hyalinosis |
|
Camptodactyly of finger, Short palm, Brachydactyly, Micromelia |
ORPHA:2176 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Brachydactyly |
OMIM:619995 |
| Weill-Marchesani Syndrome 4 |
|
Brachydactyly |
OMIM:613195 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Camptodactyly, Long eyelashes, Broad thumb, Short phalanx of finger, Mesomelia, Syndactyly, Brach... |
OMIM:616894 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Short distal phalanx of finger, Brachydactyly, Low posterior hairline, Alopecia |
ORPHA:2959 |
| Weill-Marchesani Syndrome 2 |
|
Short finger, Flexion contracture of toe, Short metatarsal, Broad phalanges of the hand, Elbow fl... |
OMIM:608328 |
| Pycnodysostosis |
|
Narrow iliac wing, Osteolytic defects of the distal phalanges of the hand, Aplastic clavicle, Bra... |
OMIM:265800 |
| Carey-Fineman-Ziter Syndrome |
|
Ulnar deviation of finger, Aplasia of the pectoralis major muscle, Talipes equinovarus, Brachydac... |
ORPHA:1358 |
| Chops Syndrome |
|
Thick hair, Synophrys, Long eyelashes, Curly hair, Thick eyebrow, Brachydactyly, Coarse hair |
OMIM:616368 |
| Acrocallosal Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Postaxial hand polydactyly, Tapered finger, Du... |
OMIM:200990 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Meningocele, Hydrocephalus, Rectal abscess, Dermal sinus tract, Myelomeningocele |
OMIM:600145 |
| Duane Retraction Syndrome |
|
Hypoplasia of the radius, Triphalangeal thumb, Talipes equinovarus, Aplasia/Hypoplasia of the thu... |
ORPHA:233 |
| Carpenter Syndrome 2 |
|
Preaxial polydactyly, Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Hitchhiker... |
OMIM:614976 |
| Genitopalatocardiac Syndrome |
|
Postaxial hand polydactyly, Brachydactyly |
ORPHA:2075 |
| Prader-Willi Syndrome Due To Translocation |
|
Clinodactyly of the 5th finger, Hypopigmentation of hair, Short foot, Bilateral talipes equinovar... |
ORPHA:177907 |
| Floating-Harbor Syndrome |
|
Ivory epiphyses of the distal phalanges of the hand, Clinodactyly of the 5th finger, Cone-shaped ... |
OMIM:136140 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short long bone, Post... |
OMIM:263520 |
| Cinca Syndrome |
|
Brachydactyly |
ORPHA:1451 |
| You-Hoover-Fong Syndrome |
|
Clinodactyly, Brachydactyly |
OMIM:616954 |
| Trisomy 8Q |
|
Camptodactyly of finger, Deep palmar crease, Brachydactyly |
ORPHA:1752 |
| Focal Dermal Hypoplasia |
|
Nail dystrophy, Short metacarpal, Split foot, Sparse hair, Midclavicular hypoplasia, Short finger... |
OMIM:305600 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Contracture of the proximal interphalangeal joint of the 5th finger, Clinodactyly of the 5th fing... |
OMIM:280000 |
| White-Sutton Syndrome |
|
Broad thumb, Brachydactyly, Sparse hair |
OMIM:616364 |
| Orofaciodigital Syndrome I |
|
Polydactyly, Radial deviation of finger, Short 2nd toe, Syndactyly, Sparse hair, Brachydactyly, C... |
OMIM:311200 |
| Weill-Marchesani Syndrome 1 |
|
Broad phalanges of the hand, Broad metacarpals, Broad metatarsal, Brachydactyly, Broad palm |
OMIM:277600 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Radial deviation of finger, Rhizomelia, Duplication of the distal phalanx of hand, Dislocated rad... |
OMIM:180700 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Bowed humerus, Short long bone, Short humerus, Trident pelvis, Brachydactyly, Hypertrichosis |
OMIM:619479 |
| 15q26 overgrowth syndrome |
|
High anterior hairline, Abnormal finger morphology, Arachnodactyly, Camptodactyly of finger, Abno... |
DECIPHER:81 |
| Autosomal Dominant Robinow Syndrome |
|
Clinodactyly of the 5th finger, Curly eyelashes, Finger syndactyly, Alopecia, Long eyelashes, Mic... |
ORPHA:3107 |
| Craniofacioskeletal Syndrome |
|
Clinodactyly of the 5th finger, Narrow iliac wing, Short palm, Brachydactyly, Short foot, Small hand |
OMIM:300712 |
| Basal Cell Nevus Syndrome 1 |
|
Polydactyly, Short 4th metacarpal, Palmar pits, Brachydactyly, Irregular ossification of hand bon... |
OMIM:109400 |
| Distal Deletion 9P |
|
Brachydactyly |
ORPHA:1642 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Brachydactyly |
ORPHA:457193 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Absent fourth finger distal interphalangeal crease, Contracture of the proximal interphalangeal j... |
OMIM:618050 |
| Smith-Lemli-Opitz Syndrome |
|
Rhizomelia, Proximal placement of thumb, Hypopigmentation of hair, Abnormal metacarpal morphology... |
ORPHA:818 |
| Pseudohypoparathyroidism Type 1C |
|
Short 4th metacarpal, Short metatarsal, Short fifth metatarsal, Broad distal phalanx of the thumb... |
ORPHA:79444 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Clinodactyly of the 5th finger, Syndactyly, Brachydactyly, Narrow joint spaces of the elbow, Clin... |
ORPHA:96182 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal metaphysis morphology, Abnormal metacarpal morphology, Finger syndactyly, Abnormal finge... |
ORPHA:2658 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Low posterior hairline, Sparse eyebrow, Aplasia/Hypoplasia involving the shoulder musculature, Sy... |
ORPHA:1521 |
| Saethre-Chotzen Syndrome |
|
Clinodactyly of the 5th finger, Absent first metatarsal, Abnormal pelvic girdle bone morphology, ... |
OMIM:101400 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Single transverse palmar crease, Prominent fingertip pads, Hirsutism, Synophrys, Short palm, Thic... |
ORPHA:466950 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Aplasia of the distal phalanx of the 5th toe, Synophrys, Brachydactyly, Aplasia of the distal pha... |
ORPHA:364577 |
| Hajdu-Cheney Syndrome |
|
Partial absence of toe, Bowing of the long bones, Synophrys, Coarse metaphyseal trabecularization... |
ORPHA:955 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Sparse eyebrow, Syndactyly, Brachydactyly, Hip dysplasia |
OMIM:620654 |
| Myhre Syndrome |
|
Abnormal metaphysis morphology, Large iliac wing, Short palm, Brachydactyly, Abnormal epiphysis m... |
ORPHA:2588 |
| Barber-Say Syndrome |
|
Clinodactyly of the 5th finger, Talipes equinovarus, Hypoplastic nipples, Absent nipple, Sparse e... |
OMIM:209885 |
| Raine Syndrome |
|
Highly arched eyebrow, Bowing of the long bones, Micromelia, Long hallux, Brachydactyly |
OMIM:259775 |
| Orthostatic Hypotension 1 |
|
Brachydactyly |
OMIM:223360 |
| Mgat2-Cdg |
|
Brachydactyly, Hirsutism, Hypoplastic nipples, Long eyelashes |
ORPHA:79329 |
| Down Syndrome |
|
Sandal gap, Hypoplastic iliac wing, Single transverse palmar crease, Short middle phalanx of the ... |
OMIM:190685 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Clinodactyly of the 5th finger, Highly arched eyebrow, Single transverse palmar crease, Synophrys... |
OMIM:617062 |
| Ayme-Gripp Syndrome |
|
Nail dystrophy, Broad eyebrow, Sparse scalp hair, Camptodactyly, Brachydactyly, Radioulnar synost... |
OMIM:601088 |
| Pseudohypoparathyroidism Type 1A |
|
Short 4th metacarpal, Short metatarsal, Short fifth metatarsal, Broad distal phalanx of the thumb... |
ORPHA:79443 |
| Down Syndrome |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Sandal gap, Brachydac... |
ORPHA:870 |
| Developmental And Epileptic Encephalopathy 100 |
|
Single transverse palmar crease, Bilateral camptodactyly, Elbow flexion contracture, Synophrys, B... |
OMIM:619777 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Pectoral muscle hypoplasia/aplasia, Sparse eyelashes, Camptodactyly of finger, Sparse eyebrow, Br... |
ORPHA:306542 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Rhizomelic arm shortening, Short humerus, Short metacarpal, Brachydactyly |
ORPHA:508542 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Proportionate shortening of all digits, Flexion contracture of toe, Short foot, Synophrys, Brachy... |
ORPHA:280633 |
| Arboleda-Tham Syndrome |
|
Enlarged proximal interphalangeal joints, Genu valgum, Deviation of the hallux, Hammertoe, Sandal... |
OMIM:616268 |
| Cranioectodermal Dysplasia 2 |
|
Polydactyly, Rhizomelia, Postaxial hand polydactyly, Sparse eyelashes, Sparse eyebrow, Mesomelia,... |
OMIM:613610 |
| Meester-Loeys Syndrome |
|
Broad distal phalanx of finger, Camptodactyly, Arachnodactyly, Brachydactyly, Hypertrichosis |
OMIM:300989 |
| Maternal Phenylketonuria |
|
Bifid distal phalanx of the thumb, Clinodactyly, Brachydactyly |
ORPHA:2209 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Talipes equinovarus, Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:847 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Frontal balding, Clinodactyly of the 5th finger, Long lower eyelashes, Highly arched eyebrow, Sin... |
OMIM:612474 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Tapered finger, Short foot, Camptodactyly, Low posterior hairline, Brachydactyly, Overlapping toe... |
OMIM:309590 |
| Robinow Syndrome |
|
High anterior hairline, Mesomelic arm shortening, Mesomelia, Bifid distal phalanx of the thumb, S... |
ORPHA:97360 |
| Specc1L-Related Hypertelorism Syndrome |
|
Clinodactyly of the 5th finger, Highly arched eyebrow, Finger syndactyly, Thick eyebrow, Short to... |
ORPHA:1519 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Fibular hypoplasia, Hip subluxation, Facial hirsutism, Thick hair, Highly arched eyebrow, Synophr... |
ORPHA:444077 |
| Monosomy 13Q14 |
|
Finger syndactyly, Clinodactyly of the 5th finger, Brachydactyly, Aplasia/Hypoplasia of the thumb |
ORPHA:1587 |
| Toriello-Lacassie-Droste Syndrome |
|
Short palm, Brachydactyly |
ORPHA:3339 |
| Gorlin Syndrome |
|
Arachnodactyly, Palmar pits, Brachydactyly |
ORPHA:377 |
| Witteveen-Kolk Syndrome |
|
High anterior hairline, Medial flaring of the eyebrow, Radial deviation of finger, Proximal place... |
OMIM:613406 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Short palm, Single transverse palmar crease, Brachydactyly, Synophrys |
ORPHA:466943 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Short clavicles, Short long bone, Postaxial hand polydactyly, Postaxial polydactyly, Brachydactyl... |
OMIM:617088 |
| Jacobsen Syndrome |
|
Abnormal eyelash morphology, Clinodactyly of the 5th finger, Brachydactyly |
OMIM:147791 |
| Pgm3-Cdg |
|
Brachydactyly |
ORPHA:443811 |
| Pallister-Hall Syndrome |
|
Short 4th metacarpal, Bilateral postaxial polydactyly, Polydactyly affecting the 4th finger, Poly... |
ORPHA:672 |
| Holoprosencephaly |
|
Highly arched eyebrow, Synophrys, Hand polydactyly, Thick eyebrow, Brachydactyly |
ORPHA:2162 |
| Noonan Syndrome |
|
Clinodactyly of the 5th finger, Abnormal hair quantity, Low posterior hairline, Brachydactyly, Ra... |
ORPHA:648 |
| Toriello-Carey Syndrome |
|
Sparse eyebrow, Clinodactyly, Brachydactyly |
ORPHA:3338 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Cubitus valgus, Short metatarsal, Short metacarpal, Frontal hirsutism, Sparse hair, Brachydactyly... |
OMIM:617157 |
| Roberts-Sc Phocomelia Syndrome |
|
Hypoplasia of the ulna, Aplasia of the ulna, Radial deviation of finger, Abnormal metacarpal morp... |
OMIM:268300 |
| Peters-Plus Syndrome |
|
Limited elbow movement, Square pelvis bone, Rhizomelia, Proximal placement of thumb, Short metata... |
OMIM:261540 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Brachydactyly |
ORPHA:168577 |
| Adams-Oliver Syndrome 1 |
|
Brachydactyly, Toe syndactyly, Supernumerary nipple, Talipes equinovarus, Alopecia |
OMIM:100300 |
| Floating-Harbor Syndrome |
|
Dislocated radial head, Short clavicles, Short metacarpal, Short thumb, Brachydactyly, Hip dyspla... |
ORPHA:2044 |
| Loeys-Dietz Syndrome 2 |
|
Absent distal phalanges, Camptodactyly, Postaxial polydactyly, Arachnodactyly, Protrusio acetabul... |
OMIM:610168 |
| 1P36 Deletion Syndrome |
|
Clinodactyly of the 5th finger, Horizontal eyebrow, Camptodactyly of finger, Abnormal eyebrow mor... |
ORPHA:1606 |
| Microphthalmia, Syndromic 6 |
|
Polydactyly, Abnormality of the hand, Clinodactyly of the 5th finger, Finger syndactyly, Single t... |
OMIM:607932 |
| Genitopatellar Syndrome |
|
Sparse scalp hair, Inferior pubic ramus hypoplasia, Congenital hip dislocation, Hypoplastic ischi... |
OMIM:606170 |
| Bardet-Biedl Syndrome |
|
Medial flaring of the eyebrow, Finger syndactyly, Postaxial polydactyly, Generalized hirsutism, S... |
ORPHA:110 |
| Cardiospondylocarpofacial Syndrome |
|
Tarsal synostosis, Short foot, Pseudoepiphyses, Brachydactyly, Cone-shaped epiphysis, Carpal syno... |
OMIM:157800 |
| Elsahy-Waters Syndrome |
|
Synophrys, Cutaneous finger syndactyly, Thick eyebrow, Shortening of all phalanges of fingers, Br... |
OMIM:211380 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Clinodactyly of the 5th finger, Camptodactyly, Synophrys, Horizontal eyebrow, Camptodactyly of fi... |
OMIM:607872 |
| Charge Syndrome |
|
Polydactyly, Abnormal tibia morphology, Clinodactyly of the 5th finger, Highly arched eyebrow, Br... |
ORPHA:138 |
| Noonan Syndrome 1 |
|
Radial deviation of finger, Cubitus valgus, Woolly hair, Low posterior hairline, Brachydactyly, C... |
OMIM:163950 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Genu valgum, Radial deviation of finger, Slender finger, Clinodactyly, Brachydactyly, Tapered fin... |
OMIM:309580 |
| Peters Plus Syndrome |
|
Clinodactyly of the 5th finger, Rhizomelia, Micromelia, Short toe, Brachydactyly, Toe syndactyly,... |
ORPHA:709 |
| Cowden Syndrome |
|
Palmoplantar keratoderma, Brachydactyly |
ORPHA:201 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Brachydactyly |
ORPHA:293987 |
