| Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
| Brachydactyly, Type A3 |
|
Clinodactyly of the 5th finger, Rhomboid or triangular shaped 5th finger middle phalanx, Short mi... |
OMIM:112700 |
| Sugarman Brachydactyly |
|
Proximal placement of hallux, Short proximal phalanx of finger, Symphalangism affecting the proxi... |
OMIM:272150 |
| Thiemann Disease, Familial Form |
|
Abnormal metaphysis morphology, Avascular necrosis, Limitation of joint mobility, Brachydactyly, ... |
ORPHA:3314 |
| Brachydactyly, Type D |
|
Type D brachydactyly, Broad distal phalanx of the thumb, Broad distal phalanx of the hallux |
OMIM:113200 |
| Syndactyly Type 4 |
|
Triphalangeal thumb, 6 metacarpals, Limitation of joint mobility, 1-5 finger syndactyly, Foot pol... |
ORPHA:93405 |
| Upington Disease |
|
Broad femoral neck, Premature epimetaphyseal fusion, Flat capital femoral epiphysis, Arthralgia o... |
ORPHA:3408 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Bilateral single transverse palmar creases, Abnormal thumb morphology, Tarsal synostosis, Abnorma... |
ORPHA:2639 |
| Talonavicular Coalition |
|
Clinodactyly of the 5th finger, Short hallux, Proximal/middle symphalangism of 5th finger, Abnorm... |
OMIM:186750 |
| Digital Arthropathy-Brachydactyly, Familial |
|
Radial deviation of finger, Brachytelomesophalangy, Arthropathy, Short distal phalanx of toe, Sho... |
OMIM:606835 |
| Osebold-Remondini Syndrome |
|
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... |
OMIM:112910 |
| Familial Digital Arthropathy-Brachydactyly |
|
Shortening of all distal phalanges of the toes, Short middle phalanx of finger, Osteoarthritis of... |
ORPHA:85169 |
| Tarsal-Carpal Coalition Syndrome |
|
Short finger, Radial deviation of finger, Tarsal synostosis, Cubitus valgus, Distal symphalangism... |
OMIM:186570 |
| Brachydactyly, Type A4 |
|
Congenital talipes calcaneovalgus, Short middle phalanx of the 5th finger, Aplasia of the middle ... |
OMIM:112800 |
| Upington Disease |
|
Flattened femoral head, Broad femoral neck, Arthralgia of the hip |
OMIM:191520 |
| Cleidorhizomelic Syndrome |
|
Diaphyseal undertubulation, Bilateral single transverse palmar creases, Rhizomelia, Clinodactyly ... |
ORPHA:1453 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Bilateral single transverse palmar creases, Tarsal synostosis, Abnormally shaped carpal bones, Cu... |
ORPHA:968 |
| Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
|
Short toe, Short finger, Abnormal long bone morphology, Abnormal pelvic girdle bone morphology |
OMIM:259270 |
| Syndactyly Type 5 |
|
Clinodactyly of the 5th finger, Metacarpal synostosis, 2-3 toe syndactyly, Camptodactyly of finge... |
ORPHA:93406 |
| Brachydactyly, Type C |
|
Pseudoepiphysis of the 2nd finger, Triangular shaped middle phalanx of the 2nd finger, Ulnar devi... |
OMIM:113100 |
| Dysplasia Epiphysealis Hemimelica |
|
Tarsal synostosis, Irregular epiphyses, Abnormal femur morphology, Genu valgum, Bone pain, Abnorm... |
ORPHA:1822 |
| Acromesomelic Dysplasia, Grebe Type |
|
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... |
ORPHA:2098 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Tarsal synostosis, Flat capital femoral epiphysis, Patellar hypoplasia, Sandal gap, Coxa vara, Mi... |
OMIM:147891 |
| Blount Disease, Infantile |
|
Osteochondritis dissecans, Abnormality of the proximal tibial epiphysis, Genu varum |
OMIM:188700 |
| Synpolydactyly 2 |
|
Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Car... |
OMIM:608180 |
| Proximal Symphalangism |
|
Tarsal synostosis, Abnormality of the wrist, Clinodactyly of the 5th finger, Abnormal metacarpal ... |
ORPHA:3250 |
| Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay |
|
Type A1 brachydactyly |
OMIM:188201 |
| Brachydactyly Type A2 |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... |
ORPHA:93396 |
| Multiple Synostoses Syndrome 2 |
|
Finger symphalangism, Tarsal synostosis, Talipes equinovarus, Proximal symphalangism, Humeroradia... |
OMIM:610017 |
| Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Abnormal pelvic girdle bone morpho... |
ORPHA:2779 |
| Fatco Syndrome |
|
Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Finger syndactyly, Spli... |
ORPHA:2492 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Rhizomelia, Wide distal femoral metaphysis, Limitation of joint mobility, Hypoplasia of the femor... |
OMIM:619598 |
| Nievergelt Syndrome |
|
Pes cavus, Tarsal synostosis, Genu valgum, Metatarsus adductus, Radial head subluxation, Mesomeli... |
OMIM:163400 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Abnormal fibula morphology, Tarsal synostosis, Cubitus valgus, Clinodactyly of the 5th finger, Ta... |
ORPHA:1836 |
| Brachydactyly, Type B2 |
|
Aplasia/Hypoplasia of the distal phalanges of the hand, Tarsal synostosis, Distal symphalangism o... |
OMIM:611377 |
| Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Aplas... |
OMIM:609432 |
| Brachydactyly, Type A1, B |
|
Radial deviation of finger, Cone-shaped epiphyses of the phalanges of the hand, Type A brachydact... |
OMIM:607004 |
| Multiple Synostoses Syndrome 3 |
|
Cubitus valgus, Limited interphalangeal movement, Metacarpal synostosis, Humeroradial synostosis,... |
OMIM:612961 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... |
OMIM:200700 |
| Brachydactyly, Type A1 |
|
Thin proximal phalanges with broad epiphyses of the hand, Proportionate shortening of all digits,... |
OMIM:112500 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia |
OMIM:188740 |
| Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... |
OMIM:201250 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger symphalangism, Reduced proximal interphalangeal joint space, Short distal phalanx of hallu... |
ORPHA:3246 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Fibular aplasia, Abnormality of the hand, Tibial bowing, Finger aplasia, Foot oligodactyly, Synda... |
OMIM:246570 |
| Synostoses, Tarsal, Carpal, And Digital |
|
Tarsal synostosis, Short metacarpal, Radial head subluxation, Metacarpophalangeal synostosis, Apl... |
OMIM:186400 |
| Triphalangeal Thumbs With Brachyectrodactyly |
|
Triphalangeal thumb, Short 2nd finger, Split hand, Split foot, Brachydactyly, Short 3rd toe |
OMIM:190680 |
| Tarsal-Carpal Coalition Syndrome |
|
Tarsal synostosis, Abnormality of the ankle |
ORPHA:1412 |
| Liebenberg Syndrome |
|
Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia... |
OMIM:186550 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal hip bone mor... |
ORPHA:1891 |
| Jackson-Weiss Syndrome |
|
Short first metatarsal, 2-3 toe syndactyly, Calcaneonavicular fusion, Broad proximal phalanx of t... |
OMIM:123150 |
| Epiphyseal Dysplasia, Multiple, 4 |
|
Flat capital femoral epiphysis, Double-layered patella, Short metacarpal, Hypoplasia of the femor... |
OMIM:226900 |
| Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Rhizomelia, Postaxial hand polydactyly, Short metacarpal, Mesomelia, Brachydactyly, Broad palm, S... |
OMIM:611263 |
| Symphalangism, Proximal, 1A |
|
Tarsal synostosis, Distal symphalangism of hands, Proximal symphalangism of hands, Carpal synosto... |
OMIM:185800 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short femur, Short humerus, Rhizomelia, Epiphyseal stippling |
OMIM:600121 |
| Symphalangism, Distal |
|
Distal symphalangism of hands, Absent dorsal skin creases over affected joints, Brachydactyly, Cr... |
OMIM:185700 |
| 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 |
|
Joint stiffness, Abnormal thumb morphology, Abnormal metacarpal morphology, Type A brachydactyly |
ORPHA:1078 |
| Multiple Synostoses Syndrome 4 |
|
Tarsal synostosis, Broad foot, Brachydactyly, Overlapping toe, Pes planus |
OMIM:617898 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm... |
ORPHA:2633 |
| Chromosome 17Q23.1-Q23.2 Duplication Syndrome |
|
Genu valgum, Coxa valga, Hip dysplasia, Acetabular dysplasia, Talipes equinovarus |
OMIM:613618 |
| Multiple Synostoses Syndrome |
|
Bilateral single transverse palmar creases, Broad thumb, Short palm, Joint stiffness, Symphalangi... |
ORPHA:3237 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Popliteal pterygium, F... |
ORPHA:3329 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... |
OMIM:118651 |
| Gollop-Wolfgang Complex |
|
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... |
ORPHA:1986 |
| Acropectorovertebral Dysplasia |
|
Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of carpal bones, Broad thum... |
ORPHA:957 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Tarsal synostosis, Mesomelia, Carpal synostosis, Radial bowing |
OMIM:156232 |
| Heart-Hand Syndrome, Spanish Type |
|
Short middle phalanx of finger, Brachydactyly, Ulnar deviation of the 2nd finger |
OMIM:140450 |
| Gombo Syndrome |
|
Radial deviation of finger, Clinodactyly, Brachydactyly |
OMIM:233270 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... |
OMIM:609441 |
| Coxopodopatellar Syndrome |
|
Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morphology, Abnormality of the kne... |
ORPHA:1509 |
| Syndactyly, Type V |
|
Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas... |
OMIM:186300 |
| Symphalangism Of Toes |
|
Synostosis involving bones of the toes |
OMIM:185600 |
| Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Broad thumb, Camptodactyly of finger, Short distal phalanx of finger, Type B brachydactyly |
ORPHA:1471 |
| Exostoses With Anetodermia And Brachydactyly, Type E |
|
Type E brachydactyly |
OMIM:133690 |
| Distal Arthrogryposis Type 1 |
|
Rocker bottom foot, Talipes, Abnormal hip bone morphology, Joint stiffness, Camptodactyly of fing... |
ORPHA:1146 |
| Ectrodactyly-Polydactyly Syndrome |
|
Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp... |
ORPHA:1892 |
| Arthrogryposis, Distal, Type 2B2 |
|
Overlapping fingers, Sandal gap, Tapered finger, Camptodactyly, Metatarsus adductus, Short toe, B... |
OMIM:618435 |
| Léri-Weill Dyschondrosteosis |
|
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Joint stiffness, Mesomeli... |
ORPHA:240 |
| Tibial Torsion, Bilateral Medial |
|
Bowing of the legs, Tibial torsion |
OMIM:188800 |
| Brachydactyly Type C |
|
Clinodactyly of the 5th finger, Short metatarsal, Aplasia/Hypoplasia of the 1st metacarpal, Pseud... |
ORPHA:93384 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Narrow greater sciatic notch, Sclerotic humeral metaphysis, Metaphyseal sclerosis, Osteoporotic t... |
OMIM:609052 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Fibular aplasia, Fibular hypoplasia, Abnormality of the hand, Abnormal foot morphology, Anterior ... |
OMIM:605274 |
| Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Finger aplasia |
OMIM:165590 |
| Blount Disease |
|
Osteochondrosis, Tibial bowing, Abnormality of the proximal tibial epiphysis, Abnormality of the ... |
ORPHA:2768 |
| Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M... |
OMIM:249700 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Joint stiffness, Tarsal synostosis, Posterior fusion of lumbosacral vertebrae |
ORPHA:2064 |
| Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Limited elbow movement, Hypoplasia of the radius, Abnormal carpal morphol... |
OMIM:127300 |
| Brachydactyly, Type A1, C |
|
Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge... |
OMIM:615072 |
| Lethal Faciocardiomelic Dysplasia |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Bilateral single transverse... |
ORPHA:1972 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, O... |
OMIM:618167 |
| Brachydactyly Type B |
|
Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy... |
ORPHA:93383 |
| Brachydactyly Type B2 |
|
Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang... |
ORPHA:140908 |
| Orofaciodigital Syndrome Type 10 |
|
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... |
ORPHA:2756 |
| Tetrasomy X |
|
Clinodactyly of the 5th finger, Brachydactyly, Radioulnar synostosis, Joint hypermobility, Hip dy... |
ORPHA:9 |
| Beukes Hip Dysplasia |
|
Flat capital femoral epiphysis, Irregular capital femoral epiphysis, Wide proximal femoral metaph... |
OMIM:142669 |
| Fibular Hemimelia |
|
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... |
ORPHA:93323 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Shor... |
OMIM:250460 |
| Coloboma Of Macula With Type B Brachydactyly |
|
Absent distal phalanges, Bifid distal phalanx of the thumb, Type B brachydactyly, Broad distal ph... |
OMIM:120400 |
| Banki Syndrome |
|
Clinodactyly of the 5th finger, Synostosis of carpal bones, Brachydactyly, Abnormal metacarpal mo... |
ORPHA:1228 |
| Digitotalar Dysmorphism |
|
Rocker bottom foot, Camptodactyly of finger, Ulnar deviation of finger |
OMIM:126050 |
| Brachydactyly-Syndactyly Syndrome |
|
Finger syndactyly, Oligodactyly, Camptodactyly, Short phalanx of finger, Syndactyly, Brachydactyl... |
OMIM:610713 |
| Syndactyly, Type Iii |
|
4-5 finger syndactyly, Absent middle phalanx of 5th finger, Toe syndactyly, Short 5th finger, 3-4... |
OMIM:186100 |
| Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Abnormality of the hand, Flared femoral metaphysis, Genu valgum, Flat distal femoral epiphysis, A... |
OMIM:609324 |
| Humero-Radial Synostosis |
|
Tarsal synostosis, Abnormality of the wrist, Aplasia/Hypoplasia of the thumb, Limitation of joint... |
ORPHA:3265 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis |
ORPHA:71289 |
| Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Broad foot, Patellar ap... |
OMIM:135750 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Clinodactyly of the 5th finger, Synostosis of carpal bones, Abnormality of the humerus, Abnormal ... |
ORPHA:1275 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Tarsal synostosis, Fused cervical vertebrae, Absent phalangeal crease, Antecubital pterygium, Fle... |
OMIM:618469 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... |
ORPHA:988 |
| Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the distal phalanx of the hallux, Aplasia/Hypoplasia of the phalanges of th... |
ORPHA:488232 |
| Metaphyseal Anadysplasia 2 |
|
Micromelia, Metaphyseal widening, Short femoral neck, Metaphyseal irregularity, Bowing of the leg... |
OMIM:613073 |
| Sheldon-Hall Syndrome |
|
Bilateral single transverse palmar creases, Tarsal synostosis, Abnormal hip bone morphology, Join... |
ORPHA:1147 |
| Syndactyly Type 2 |
|
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... |
ORPHA:93403 |
| Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome |
|
Osteoarthritis, Short thumb, Brachydactyly |
ORPHA:435804 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Short metacarpal, Syndactyly, Brachydactyl... |
OMIM:605282 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Genu valgum, Irregular epiphyses, Small epiphyses, Arthralgia of the hip, Delayed ossification of... |
OMIM:607078 |
| Hypertension And Brachydactyly Syndrome |
|
Short phalanx of finger, Cone-shaped epiphysis, Type E brachydactyly, Short metacarpal |
OMIM:112410 |
| Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Tarsal synostosis, Abnormality of the wrist, Carpal synostosis, Abnormality of the ankle |
ORPHA:2010 |
| Laurin-Sandrow Syndrome |
|
Mirror image polydactyly, Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morpho... |
ORPHA:2378 |
| Pseudoachondroplasia |
|
Short long bone, Increased laxity of ankles, Flat acetabular roof, Hypoplastic pelvis, Joint stif... |
ORPHA:750 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Osteopenia, Osteoarthritis of the elbow, Abnormality of the wrist, Hip osteoarthritis, Joint subl... |
ORPHA:2619 |
| Brachydactyly-Arterial Hypertension Syndrome |
|
Short phalanx of finger, Short metacarpal, Brachydactyly |
ORPHA:1276 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Clinodactyly of the 5th finger, Short hallux, Finger syndactyly, Metacarpal synostosis, 2-3 toe s... |
ORPHA:157801 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra... |
ORPHA:85170 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi... |
OMIM:113310 |
| Eiken Syndrome |
|
Fibular hypoplasia, Abnormal bone ossification, Cubitus valgus, Delayed epiphyseal ossification, ... |
ORPHA:79106 |
| Acheiropody |
|
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... |
OMIM:200500 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Finger syndactyly, ... |
ORPHA:3429 |
| Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Type E brachydactyly |
ORPHA:1962 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Talipes equinovarus, Brachydactyly, Short 5th finger, Aplasia/Hypoplasia of the fibula, Short foo... |
ORPHA:52056 |
| Heart-Hand Syndrome, Slovenian Type |
|
Brachydactyly, Clinodactyly, Syndactyly, Aplasia of the middle phalanx of the hand |
OMIM:610140 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Rhizomelia, Short metatarsal, Deformed humeral heads, Short metacarpal, Coxa vara, Short humerus,... |
OMIM:601438 |
| Dermatoosteolysis, Kirghizian Type |
|
Abnormal metaphysis morphology, Abnormality of the hand, Abnormality of the wrist, Tarsal synosto... |
ORPHA:1657 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Synostosis of carpals/tarsals, Radial deviation of finger, Clinodactyly of the 2nd finger, Comple... |
ORPHA:363417 |
| Tibial Hemimelia |
|
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... |
ORPHA:93322 |
| Multiple Synostoses Syndrome 1 |
|
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Sho... |
OMIM:186500 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Fibular hypoplasia, Delayed skeletal maturation, Absent thumb, Aplasia/Hy... |
OMIM:612447 |
| Brachydactyly, Type A2 |
|
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... |
OMIM:112600 |
| Feingold Syndrome Type 2 |
|
Toe syndactyly, Short middle phalanx of finger, Short thumb, Brachydactyly |
ORPHA:391646 |
| Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Corner fracture of metaphysis, Coxa vara, Hypoplasia of the odontoid process, Short femoral neck,... |
OMIM:184255 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Monkey wrench femoral neck, Flat acetabular roof, Epiphyseal dysplasia, Hypoplasia of the capital... |
OMIM:617719 |
| Brachydactyly Type A7 |
|
Finger symphalangism, Short middle phalanx of the 5th toe, Clinodactyly of the 5th finger, Sandal... |
ORPHA:93397 |
| 2q37 monosomy |
|
Brachydactyly |
DECIPHER:44 |
| Pacman Dysplasia |
|
Bowing of the long bones, Epiphyseal stippling |
OMIM:167220 |
| Syndactyly Type 3 |
|
Finger syndactyly, Camptodactyly of finger, Short toe |
ORPHA:93404 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal t... |
ORPHA:1802 |
| Hypochondroplasia |
|
Abnormal metaphysis morphology, Abnormal femur morphology, Bowing of the long bones, Abnormal pel... |
ORPHA:429 |
| Endove Syndrome, Limb-Only Type |
|
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... |
OMIM:619217 |
| Osteochondrosis Of The Tarsal Bone |
|
Osteochondritis dissecans, Tarsal sclerosis, Avascular necrosis, Arthritis, Abnormal tarsal ossif... |
ORPHA:563991 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Rhizomelia, Femoral bowing, Micromelia, Dumbbell-shaped long bone, Micrognathia, Metaphyseal wide... |
ORPHA:440354 |
| Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... |
OMIM:607778 |
| Santos Syndrome |
|
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... |
OMIM:613005 |
| Chromosome 20Q11-Q12 Deletion Syndrome |
|
Tarsal osteovalgus, Camptodactyly, Brachydactyly, Adducted thumb, Finger clinodactyly |
OMIM:614257 |
| Acromesomelic Dysplasia 2B |
|
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... |
OMIM:228900 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent... |
OMIM:612576 |
| Epiphyseal Dysplasia, Multiple, 2 |
|
Osteochondritis dissecans, Irregular epiphyses, Small epiphyses, Tibial torsion, Knee osteoarthri... |
OMIM:600204 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Genu valgum, Arthralgia of the hip, Delayed epiphyseal ossification, Knee pain, Short long bone, ... |
ORPHA:93308 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Osteoporosis, Short distal phalanx of finger, Brachydactyly, Wormian bones, Joint hypermobility |
ORPHA:2787 |
| Chromosome 15Q13.3 Deletion Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly |
OMIM:612001 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Skewfoot, Stiff ankle, Short metacarpal, Joint stiffness, Broad femoral neck, Accelerated skeleta... |
ORPHA:93307 |
| Brachydactyly Type E |
|
Aplasia/Hypoplasia of the distal phalanx of the hallux, Type E brachydactyly, Short metatarsal, S... |
ORPHA:93387 |
| Hirschsprung Disease With Type D Brachydactyly |
|
Short thumb, Type D brachydactyly |
OMIM:306980 |
| Arthrogryposis, Distal, Type 11 |
|
Rocker bottom foot, Calcaneovalgus deformity, Camptodactyly, Metatarsus adductus, Limited pronati... |
OMIM:620019 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... |
OMIM:228930 |
| Congenital Vertical Talus |
|
Rocker bottom foot, Abnormality of the foot musculature, Lower extremity joint dislocation, Equin... |
ORPHA:178382 |
| Distal Symphalangism |
|
Joint stiffness, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Syno... |
ORPHA:3248 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low... |
ORPHA:93356 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly |
OMIM:228250 |
| Smith-Magenis syndrome |
|
Brachydactyly |
DECIPHER:8 |
| 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 |
| Pelviscapular Dysplasia |
|
Abnormality of the joint spaces of the elbow, Elbow flexion contracture, Hypoplastic ilia, Congen... |
ORPHA:93333 |
| Non-Syndromic Bicoronal Craniosynostosis |
|
Metacarpal synostosis, Brachydactyly |
ORPHA:35099 |
| Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Micrognathia, Abnormal shoulder morphology, Mesomelia, Brachydactyly |
ORPHA:1277 |
| Orofaciodigital Syndrome Viii |
|
Polydactyly, Short tibia, Syndactyly |
OMIM:300484 |
| Brachydactyly-Nystagmus-Cerebellar Ataxia |
|
Short metacarpal, Short metatarsal, Brachydactyly |
OMIM:113400 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Abnormal metaphysis morphology, Reduced bone mineral density, Bowing of the long bones, Delayed s... |
ORPHA:2501 |
| Arthrogryposis, Distal, Type 1B |
|
Rocker bottom foot, Foot joint contracture, Camptodactyly, Distal arthrogryposis, Arthrogryposis ... |
OMIM:614335 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ... |
OMIM:119100 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Fibular hypoplasia, Genu valgum, Fixed elbow flexion, Rhizomelia, Small epiphyses, Delayed epiphy... |
ORPHA:166016 |
| Pseudopseudohypoparathyroidism |
|
Short 4th metacarpal, Short metatarsal, Ectopic ossification, Brachydactyly, Short distal phalanx... |
ORPHA:79445 |
| Bardet-Biedl Syndrome 5 |
|
Polydactyly, Syndactyly, Brachydactyly |
OMIM:615983 |
| Muenke Syndrome |
|
Tarsal synostosis, Short foot, Coronal craniosynostosis, Short palm, Cone-shaped epiphysis, Carpa... |
ORPHA:53271 |
| Developmental Dysplasia Of The Hip 2 |
|
Arthritis, Hip osteoarthritis, Coxa valga, Hip dysplasia |
OMIM:615612 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Limited elbow extension, Capitate-hamate fusion, Genu valgum, Irregular epiphyses of the metacarp... |
OMIM:614078 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Abnormal hand metaphysis morphology, Joint stiffness, Abnormal metacarpophalangeal joint morpholo... |
ORPHA:166011 |
| 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 |
|
Short ribs, Postaxial hand polydactyly, Acetabular spurs, Brachydactyly, Trident acetabulum, Post... |
OMIM:617405 |
| Eng-Strom Syndrome |
|
Camptodactyly of finger, Arthritis, Brachydactyly |
ORPHA:1937 |
| Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome |
|
Knee dislocation, Hip dislocation, Hammertoe, Hip dysplasia |
ORPHA:370943 |
| Cooks Syndrome |
|
Broad thumb, Split hand, Triphalangeal thumb, Brachydactyly |
ORPHA:1487 |
| Brachydactyly, Type E2 |
|
Short metacarpal, Short metatarsal, Brachydactyly |
OMIM:613382 |
| Bardet-Biedl Syndrome 18 |
|
Brachydactyly |
OMIM:615995 |
| Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Coxa valga, Short greater sciatic notch |
OMIM:271620 |
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Abnormality of the epiphyses of the elbow, Ulnar deviated club hands, Genu valgum, Arthralgia of ... |
ORPHA:166002 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Equinovarus deformity, Aplasia/Hypoplasia of metatarsal bones, Flared metaphysis, Narrow iliac wi... |
ORPHA:2502 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... |
ORPHA:2634 |
| Mueller-Weiss Syndrome |
|
Equinovarus deformity, Fragmented, irregular epiphyses, Avascular necrosis, Talipes calcaneovarus... |
ORPHA:566943 |
| Heart-Hand Syndrome Type 2 |
|
Short 4th metacarpal, Abnormality of the wrist, Abnormal shoulder morphology, Abnormal metacarpal... |
ORPHA:1350 |
| Metatropic Dysplasia |
|
Narrow greater sciatic notch, Relatively short spine, Short ribs, Flat acetabular roof, Long cocc... |
OMIM:156530 |
| Wahab Syndrome |
|
Short metacarpal, Camptodactyly, Short foot, Short palm, Syndactyly, Short thumb, Adducted thumb,... |
OMIM:615170 |
| Epiphyseal Dysplasia, Baumann Type |
|
Marked delay in bone age, Genu valgum, Clinodactyly of the 5th finger, Carpal bone aplasia, Hypop... |
OMIM:610797 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal metaphysis morphology, Reduced bone mineral density, Clinodactyly of the 5th finger, Abn... |
ORPHA:2370 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Single transverse palmar crease, Oligo... |
OMIM:201170 |
| Hirschsprung Disease-Type D Brachydactyly Syndrome |
|
Short phalanx of hallux, Brachydactyly, Short distal phalanx of the thumb |
ORPHA:2150 |
| Polydactyly, Postaxial, Type A5 |
|
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly |
OMIM:263450 |
| Hypochondroplasia |
|
Limited elbow extension, Flared metaphysis, Short long bone, Aplasia/hypoplasia of the extremitie... |
OMIM:146000 |
| Metaphyseal Anadysplasia |
|
Abnormal metaphysis morphology, Abnormal ulnar metaphysis morphology, Abnormality of the lower li... |
ORPHA:1040 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Limited elbow extension, Type E brachydactyly, Irregular epiphyses, Delay... |
ORPHA:1856 |
| 20Q11.2 Microdeletion Syndrome |
|
Camptodactyly, Brachydactyly, Adducted thumb, Finger clinodactyly, Talipes calcaneovalgus |
ORPHA:444051 |
| Emery-Nelson Syndrome |
|
Abnormal thumb morphology, Metacarpophalangeal joint contracture, Camptodactyly of finger, Brachy... |
ORPHA:1927 |
| Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Radial club hand, Short metatarsal, Short metacarpal, Broad thumb, Micrognathia, Brachydactyly, P... |
ORPHA:1278 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morphology, Aplasia/Hypoplasia o... |
ORPHA:1307 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Upper ... |
ORPHA:93351 |
| Weyers Acrofacial Dysostosis |
|
Clinodactyly of the 5th finger, Postaxial hand polydactyly, Short palm, Brachydactyly, Postaxial ... |
OMIM:193530 |
| Mesomelia-Synostoses Syndrome |
|
Abnormal femur morphology, Joint stiffness, Mesomelia, Abnormality of the hand, Abnormal tibia mo... |
ORPHA:2496 |
| Hip Dysplasia, Beukes Type |
|
Abnormal bone ossification, Abnormality of bone mineral density, Coxa vara, Broad femoral neck, A... |
ORPHA:2114 |
| Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Restricted large joint movement, Abnormal ilium morphology, Bilateral coxa valga, Abnormality of ... |
ORPHA:163665 |
| Langer Mesomelic Dysplasia |
|
Abnormal carpal morphology, Madelung deformity, Mesomelic/rhizomelic limb shortening, Bowing of t... |
ORPHA:2632 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Synostosis of carpal bones, Broad thumb, Radial deviation of the 2nd finger, B... |
OMIM:102510 |
| Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Abnormal epiphysis morphology of the phalanges of the hand, Hip osteoarthritis, Brachydactyly |
OMIM:619248 |
| Microphthalmia With Limb Anomalies |
|
Bilateral single transverse palmar creases, Sandal gap, Abnormality of the upper limb, Short long... |
ORPHA:1106 |
| Familial Clubfoot Due To 17Q23.1Q23.2 Microduplication |
|
Talipes equinovarus, Hip dysplasia |
ORPHA:238578 |
| Brachydactyly-Syndactyly, Zhao Type |
|
Hallux valgus, Short fifth metatarsal, Short middle phalanx of the 5th finger, Symphalangism affe... |
ORPHA:93409 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Pathologic fracture, Fibular hypoplasia, Pseudoarthrosis |
OMIM:607278 |
| 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 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Genu valgum, Irregular epiphyses, Hip osteoarthritis, Small epiphyses, Delayed epiphyseal ossific... |
OMIM:132400 |
| Epiphyseal Dysplasia, Multiple, 6 |
|
Flat distal femoral epiphysis, Irregular epiphyses, Flat capital femoral epiphysis, Small epiphys... |
OMIM:614135 |
| Orofaciodigital Syndrome Iv |
|
Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Micrognathia, Brachydact... |
OMIM:258860 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Abnormality of the hand, Hip subluxation, Wide distal femoral metaphysis, Arthralgia of the hip, ... |
ORPHA:99642 |
| Metacarpal 4-5 Fusion |
|
2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Clinodactyly of the 5th finger, Short 5t... |
OMIM:309630 |
| Ulnar Hemimelia |
|
Limited elbow movement, Dislocated radial head, Elbow pain, Congenital finger flexion contracture... |
ORPHA:93320 |
| Frontometaphyseal Dysplasia 1 |
|
Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co... |
OMIM:305620 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Cervical C2/C3 vertebral fusion, Osseous finger syndactyly, 3-4 finger cutaneous syndactyly, Tria... |
ORPHA:370010 |
| Auriculoosteodysplasia |
|
Dislocated radial head, Hip dysplasia |
OMIM:109000 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Delayed ossification of carpal bones, Reduced bone mineral density, Short femoral neck, Brachydac... |
OMIM:618392 |
| Femoral-Facial Syndrome |
|
Abnormal fibula morphology, Abnormal pelvic girdle bone morphology, Coxa vara, Aplasia/Hypoplasia... |
ORPHA:1988 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction |
|
Short metatarsal, Short hallux, Hitchhiker thumb, Short metacarpal, Hallux varus, Short thumb, Sh... |
OMIM:112450 |
| Acheiropodia |
|
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... |
ORPHA:931 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Genu valgum, Metaphyseal sclerosis, Broad middle phalanx of finger, Femoral bowing, Irregular ace... |
OMIM:156500 |
| Craniosynostosis With Fibular Aplasia |
|
Fibular aplasia, Single transverse palmar crease, Craniosynostosis |
OMIM:218550 |
| Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Osteochondritis dissecans, Hip osteoarthritis, Accelerated skeletal maturation, Broad hallux, Sho... |
OMIM:165800 |
| Ivic Syndrome |
|
Hypoplasia of the ulna, Limited elbow movement, Hypoplasia of the radius, Preaxial polydactyly, C... |
OMIM:147750 |
| Solitary Bone Cyst |
|
Abnormal tibia morphology, Abnormal ilium morphology, Abnormality of the medullary cavity of the ... |
ORPHA:83468 |
| Acromicric Dysplasia |
|
Abnormal femur morphology, Short metacarpal, Joint stiffness, Short palm, Delayed skeletal matura... |
ORPHA:969 |
| Prenatal Bowing |
|
Bowing of the long bones |
OMIM:264050 |
| Fibular Aplasia-Ectrodactyly Syndrome |
|
Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the fibula |
ORPHA:1118 |
| Patella Aplasia-Hypoplasia |
|
Patellar aplasia, Patellar hypoplasia |
OMIM:168860 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis, Dense metaphyseal bands, Erlenmeyer flask deformity of the femurs, Cortical sclero... |
OMIM:611497 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... |
ORPHA:174 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Polydactyly, Upper limb phocomelia, Abnormal hip bone morphology, Syndactyly |
ORPHA:294975 |
| Craniosynostosis 3 |
|
Right unicoronal synostosis, Bicoronal synostosis, Single transverse palmar crease, Brachydactyly... |
OMIM:615314 |
| Grant Syndrome |
|
Wormian bones, Micrognathia, Tibial bowing, Down-sloping shoulders |
OMIM:138930 |
| Camptobrachydactyly |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Camptodactyly of finger, Brachydactyly, Ulnar... |
ORPHA:1319 |
| Anauxetic Dysplasia 2 |
|
Cubitus valgus, Hypoplasia of the femoral head, Coxa vara, Hypoplastic iliac body, Delayed skelet... |
OMIM:617396 |
| Weismann-Netter Syndrome |
|
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... |
ORPHA:3344 |
| Mal De Meleda |
|
Congenital symmetrical palmoplantar keratosis, Brachydactyly |
OMIM:248300 |
| Atelosteogenesis Type Ii |
|
Sandal gap, Tracheobronchomalacia, Short ribs, Short metacarpal, Short lower limbs, Dumbbell-shap... |
ORPHA:56304 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Narrow greater sciatic notch, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling,... |
OMIM:184250 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Limited elbow extension, Hypoplastic sacrum, Genu valgum, Short metatarsal, Upper limb undergrowt... |
OMIM:271650 |
| Orofaciodigital Syndrome Xviii |
|
Preaxial polydactyly, Genu valgum, Sandal gap, Single transverse palmar crease, Postaxial polydac... |
OMIM:617927 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Joint stiffness, Brachydactyly, Joint hypermobility, Acromesomelia |
ORPHA:40 |
| Vertical Talus, Congenital |
|
Rocker bottom foot, Arthritis, Equinus calcaneus, Calcaneovalgus deformity |
OMIM:192950 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Limited elbow extension, Tarsal synostosis, Clinodactyly of the 5th finger, Talipes equinovarus, ... |
OMIM:272460 |
| Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hip osteoarthritis, Joint hypermobility, Short middle phalanx of the 5th finger, Delayed skeletal... |
ORPHA:63442 |
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Genu valgum, Epiphyseal dysplasia, Short phalanx of finger, Brachydactyly, Coxa valga |
OMIM:132450 |
| Deafness, Congenital, With Onychodystrophy, Autosomal Dominant |
|
Triphalangeal thumb, Absent middle phalanx of 5th finger, Bilateral triphalangeal thumbs, Brachyd... |
OMIM:124480 |
| Heart-Hand Syndrome, Slovenian Type |
|
Abnormal foot morphology, Brachydactyly |
ORPHA:168796 |
| Tetralogy Of Fallot |
|
Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:3303 |
| Microcephaly, Short Stature, And Limb Abnormalities |
|
Hypoplasia of the radius, Clinodactyly of the 5th finger, Patellar hypoplasia, 11 pairs of ribs, ... |
OMIM:617604 |
| Ophthalmomandibulomelic Dysplasia |
|
Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Mesomelia, Rad... |
OMIM:164900 |
| Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Cone-shaped epiphyses of the middle phalanges of the hand, Absent trapezium, Absent scaphoid, Dis... |
OMIM:606895 |
| Mesomelia-Synostoses Syndrome |
|
Narrow foot, Carpometacarpal synostosis, Short metatarsal, Metacarpal synostosis, Distal femoral ... |
OMIM:600383 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o... |
OMIM:227270 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Abnormal pelvic girdle bone morphology, Micromelia, Camptodactyly of finger, Brachydactyly, Ulnar... |
ORPHA:2928 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Femoral bowing, Tibial bowing, Cortical thickening of long bone d... |
OMIM:166740 |
| Summitt Syndrome |
|
Short 4th metacarpal, Genu valgum, Clinodactyly of the 5th finger, Finger syndactyly, Prominent m... |
ORPHA:3210 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Short digit, Abnormal hand morphology, Clinodactyly of the 5th finger, Short 5th metacarpal |
ORPHA:228190 |
| Osteochondritis Dissecans |
|
Limited elbow extension, Abnormal tibia morphology, Joint hypermobility, Limitation of joint mobi... |
ORPHA:2764 |
| Brachydactyly, Type E1 |
|
Type E brachydactyly, Short metatarsal, Short clavicles, Short metacarpal, Brachydactyly |
OMIM:113300 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Short distal phalanx of finger, Hypoplastic iliac wing, Brachydactyly, Hip dysplasia |
ORPHA:1858 |
| Split-Hand/Foot Malformation 4 |
|
Aplasia/Hypoplasia of metatarsal bones, Triphalangeal thumb, Aplasia/Hypoplasia of the phalanges ... |
OMIM:605289 |
| Familial Anetoderma |
|
Abnormal tibia morphology, Generalized joint hypermobility |
ORPHA:228277 |
| Camptobrachydactyly |
|
Congenital finger flexion contractures, Hand polydactyly, Short toe, Syndactyly, Brachydactyly |
OMIM:114150 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
| Pseudoachondroplasia |
|
Short long bone, Short metacarpal, Metaphyseal irregularity, Short distal phalanx of finger, Join... |
OMIM:177170 |
| Jeune Syndrome |
|
Abnormal metaphysis morphology, Postaxial hand polydactyly, Abnormal pelvic girdle bone morpholog... |
ORPHA:474 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Pes cavus, Cubitus valgus, Cervical C2/C3 vertebral fusion, Short metatarsal, Genu recurvatum, Li... |
OMIM:151200 |
| Aase-Smith Syndrome |
|
Abnormal hip bone morphology, Slender finger, Joint stiffness, Camptodactyly of finger, Aplasia/H... |
ORPHA:916 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Popliteal pterygium, Tarsal synostosis, Multiple pterygia, Elbow flexion contracture, Camptodacty... |
OMIM:178110 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormal metaphysis morphology, Abnormal fibula morphology, Abnormal hip bone morphology, Abnorma... |
ORPHA:1837 |
| Otopalatodigital Syndrome Type 2 |
|
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Abnormal metacarpal morphology, Short h... |
ORPHA:90652 |
| Sillence Syndrome |
|
Short finger, Chess-pawn distal phalanges, Pes cavus, Large tarsal bones, Intervertebral disk deg... |
ORPHA:3168 |
| Kyphomelic Dysplasia |
|
Ulnar bowing, Pterygium, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Tibial bowing... |
OMIM:211350 |
| Thanatophoric Dysplasia Type 1 |
|
Abnormal metaphysis morphology, Short greater sciatic notch, Femoral bowing, Split hand, Bowing o... |
ORPHA:1860 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me... |
OMIM:268305 |
| Achondroplasia |
|
Narrow greater sciatic notch, Limited elbow extension, Limited hip extension, Rhizomelia, Ulnar b... |
OMIM:100800 |
| Otopalatodigital Syndrome Type 1 |
|
Proximal placement of thumb, Sandal gap, Abnormal metacarpal morphology, Short hallux, Increased ... |
ORPHA:90650 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Bowing of the legs, Lower limb undergrowth, Brachydactyly |
OMIM:612847 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Limited elbow extension, Rhizomelia, Small epiphyses, Ulnar bowing, Metaphyseal cupping, Flared m... |
OMIM:602111 |
| Keipert Syndrome |
|
Broad distal phalanx of finger, Camptodactyly, Broad thumb, Broad hallux, Brachydactyly, Joint hy... |
OMIM:301026 |
| Second Metatarsal-Metacarpal Syndrome |
|
Synostosis of carpals/tarsals, Abnormal metacarpal morphology |
OMIM:269630 |
| Leri Pleonosteosis |
|
Abnormal metaphysis morphology, Cubitus valgus, Abnormal metacarpal morphology, Genu recurvatum, ... |
ORPHA:2900 |
| Atelosteogenesis Type Iii |
|
Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Elbow disl... |
ORPHA:56305 |
| Microphthalmia With Limb Anomalies |
|
Metatarsal synostosis, Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus, Sandal gap, ... |
OMIM:206920 |
| Atelosteogenesis, Type I |
|
Tibial bowing, Clubbing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel... |
OMIM:108720 |
| Brachydactyly, Type B1 |
|
Aplasia/Hypoplasia of the distal phalanges of the hand, Hypoplastic sacrum, Delayed cranial sutur... |
OMIM:113000 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... |
ORPHA:85188 |
| Steel Syndrome |
|
Limited elbow extension, Pes cavus, Clinodactyly of the 5th finger, Dislocated radial head, Coxa ... |
OMIM:615155 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Short greater sciatic notch, Flat acetabular roof, Flared iliac ... |
ORPHA:93314 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Short femur, Amelia, Foot oligodactyly |
OMIM:601357 |
| Ophthalmomandibulomelic Dysplasia |
|
Ulnar deviated club hands, Abnormality of bone mineral density, Limitation of joint mobility, Syn... |
ORPHA:2741 |
| Polydactyly, Postaxial, Type A7 |
|
Short fifth metatarsal, 2-3 toe cutaneous syndactyly, Postaxial hand polydactyly, Postaxial foot ... |
OMIM:617642 |
| Paget Disease Of Bone 2, Early-Onset |
|
Bone pain, Osteosclerosis of the ulna, Fractures of the long bones, Femoral bowing, Bowing of the... |
OMIM:602080 |
| Greenberg Dysplasia |
|
Abnormal bone ossification, Rhizomelia, Abnormal pelvis bone ossification, Anterior rib punctate ... |
ORPHA:1426 |
| Spondyloperipheral Dysplasia |
|
Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Short distal phala... |
OMIM:271700 |
| Coxoauricular Syndrome |
|
Reduced bone mineral density, Abnormal femur morphology, Abnormal pelvic girdle bone morphology, ... |
ORPHA:1508 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Genu valgum, Rhizomelia, Deformed humeral heads, Short metacarpal, Coxa vara, Deviation of finger... |
ORPHA:2831 |
| Desbuquois Dysplasia 1 |
|
Sandal gap, Flat acetabular roof, Broad femoral neck, Bifid distal phalanx of the thumb, Joint hy... |
OMIM:251450 |
| Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome |
|
Short distal phalanx of finger, Brachytelomesophalangy |
ORPHA:1547 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal metaphysis morphology, Abnormal hip bone morphology, Abnormal metacarpal morphology, Bow... |
ORPHA:2631 |
| Terminal Osseous Dysplasia |
|
Mesomelic arm shortening, Abnormal hand bone ossification, Abnormality of the lower limb, Camptod... |
OMIM:300244 |
| Acrocephalopolydactyly |
|
Genu recurvatum, Short long bone, Limb undergrowth, Brachydactyly |
ORPHA:221054 |
| Thoracomelic Dysplasia |
|
Abnormal metaphysis morphology, Abnormal fibula morphology, Diaphyseal undertubulation, Genu valg... |
ORPHA:1803 |
| Brachydactyly Type A1 |
|
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Distal symphalangism of hands, Short hall... |
ORPHA:93388 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Short middle phalanx of finger, Fused cervical vertebrae, Brachydactyly |
ORPHA:1436 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Carpal bone hypoplasia, Genu valgum, Metaphyseal cupping, Narrow iliac wing, Short long bone, Bro... |
OMIM:250420 |
| Weismann-Netter Syndrome |
|
Squared iliac bones, Fibular bowing, Anterior tibial bowing, Lateral femoral bowing |
OMIM:112350 |
| Atelosteogenesis Type I |
|
Abnormal fibula morphology, Absent or minimally ossified vertebral bodies, Rhizomelia, Joint disl... |
ORPHA:1190 |
| Charlie M Syndrome |
|
Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndactyly, Split hand, Micrognathia,... |
ORPHA:1406 |
| Acrodysplasia Scoliosis |
|
Brachydactyly |
ORPHA:2956 |
| Rhizomelic Syndrome, Urbach Type |
|
Rhizomelia, Triphalangeal thumb, Abnormality of the elbow, Limitation of joint mobility, Abnormal... |
ORPHA:3098 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Clinodactyly, Syndactyly, Brachydactyly |
OMIM:610023 |
| Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Femoral ... |
OMIM:620076 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Limited elbow movement, Genu valgum, Reduced bone mineral density, Abnormal foot morphology, Smal... |
ORPHA:94068 |
| Progressive Osseous Heteroplasia |
|
Bone pain, Limitation of joint mobility, Ectopic ossification in muscle tissue, Osteoarthritis, B... |
ORPHA:2762 |
| Bardet-Biedl Syndrome 4 |
|
Polydactyly, Syndactyly, Brachydactyly |
OMIM:615982 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets, Genu valgum, Fibular bowing, Generalized bone demineralization, Rickets of the lower lim... |
OMIM:600785 |
| Phenobarbital Embryopathy |
|
Aplasia/Hypoplasia of fingers, Brachydactyly |
ORPHA:1919 |
| Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Hand polydactyly, Short tibia, Camptodactyly |
OMIM:258865 |
| Femur-Fibula-Ulna Complex |
|
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... |
ORPHA:2019 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Short first metatarsal, Single transverse palmar crease, Short distal phalanx of toe, Brachydacty... |
OMIM:601957 |
| Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures |
|
Brachydactyly |
OMIM:618879 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Popliteal pterygium, Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Mirror ima... |
OMIM:119800 |
| Microcephaly-Micromelia Syndrome |
|
Oligodactyly, Forearm undergrowth, Micromelia, Humeroradial synostosis, Missing ribs, Micrognathi... |
OMIM:251230 |
| Shox-Related Short Stature |
|
Ulnar radial head dislocation, Genu valgum, Cubitus valgus, Madelung deformity, Tibial bowing, Fo... |
ORPHA:314795 |
| Arthrogryposis, Distal, Type 1A |
|
Rocker bottom foot, Single transverse palmar crease, Elbow flexion contracture, Ulnar deviation o... |
OMIM:108120 |
| Otospondylomegaepiphyseal Dysplasia |
|
Flared femoral metaphysis, Fibular bowing, Abnormal long bone morphology, Sandal gap, Abnormal il... |
ORPHA:1427 |
| Odontochondrodysplasia 1 |
|
Irregular epiphyses, Small epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Metaphy... |
OMIM:184260 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Narrow greater sciatic notch, Limited elbow extension, Irregular epiphyses, Dysplastic iliac wing... |
OMIM:608728 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Rocker bottom foot, Proximal tibial and fibular fusion, Femoral bowing, Short metacarpal, Arachno... |
ORPHA:95699 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Osteopenia, Short finger, Cone-shaped epiphyses of the middle phalanges of the hand, Short metata... |
OMIM:190351 |
| Stuve-Wiedemann Syndrome 1 |
|
Flexion contracture of toe, Short long bone, Femoral bowing, Clubbing, Tibial bowing, Absent pate... |
OMIM:601559 |
| Multiple Epiphyseal Dysplasia Type 5 |
|
Ankle pain, Genu valgum, Intervertebral disk degeneration, Arthralgia of the hip, Abnormality of ... |
ORPHA:93311 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Polydactyly, Short long bone, Brachydactyly |
OMIM:613819 |
| Carpenter Syndrome |
|
Polydactyly, Genu valgum, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Toe syndact... |
ORPHA:65759 |
| Dyggve-Melchior-Clausen Disease |
|
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... |
OMIM:223800 |
| Temtamy Syndrome |
|
Clinodactyly of the 5th finger, Micrognathia, Short toe, Brachydactyly, Joint hypermobility, Pes ... |
ORPHA:1777 |
| Acrorenal Syndrome |
|
Abnormal tibia morphology, Split hand, Micrognathia, Abnormal morphology of ulna, Aplasia/Hypopla... |
ORPHA:971 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Bilateral single transverse palmar creases, Abnormal thumb morphology, Abnormality of the wrist, ... |
ORPHA:2511 |
| Lowry-Wood Syndrome |
|
Limited elbow extension, Multiple joint dislocation, Irregular epiphyses, Clinodactyly of the 5th... |
OMIM:226960 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Narrow greater sciatic notch, Carpal bone hypoplasia, Abnormal foot morphology, Cone-shaped epiph... |
OMIM:184252 |
| Smith-Mccort Dysplasia 2 |
|
Limited elbow extension, Genu valgum, Short metatarsal, Flat acetabular roof, Short metacarpal, B... |
OMIM:615222 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Flared metaphysis, Short ribs, Decreased skull ossification, Decreased fibular diamet... |
OMIM:616897 |
| Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Brachydactyly |
OMIM:617169 |
| Trichothiodystrophy 9, Nonphotosensitive |
|
Joint hypermobility, Brachydactyly |
OMIM:619692 |
| 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 |
| Thanatophoric Dysplasia, Type Ii |
|
Flared metaphysis, Short greater sciatic notch, Short ribs, Hypoplastic ilia, Micromelia, Brachyd... |
OMIM:187601 |
| Muenke Syndrome |
|
Capitate-hamate fusion, Radial deviation of finger, Cone-shaped epiphyses of the phalanges of the... |
OMIM:602849 |
| Slc35A2-Cdg |
|
Osteopenia, Abnormality of the hand, Hip subluxation, Abnormal long bone morphology, Talipes equi... |
ORPHA:356961 |
| Lowry-Wood Syndrome |
|
Irregular epiphyses, Dislocated radial head, Coxa vara, Epiphyseal dysplasia, Joint stiffness, De... |
ORPHA:1824 |
| Boomerang Dysplasia |
|
Absent radius, Fibular aplasia, Hypoplastic iliac body |
OMIM:112310 |
| Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Abnormal metaphysis morphology, Osteopenia, Flat capital femoral epiphysis, Broad femoral neck, T... |
ORPHA:157965 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l... |
OMIM:300106 |
| Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Clinodactyly of the 5th finger, Abnormal vertebral segmen... |
OMIM:244600 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Short long bone, Femoral bowing... |
OMIM:613091 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Reduced bone mineral density, Abnormal hip bone morphology, Wormian bones, Abnormality of the ank... |
ORPHA:970 |
| Chromosome 15Q26-Qter Deletion Syndrome |
|
Talipes equinovarus, Micrognathia, Short middle phalanx of finger, Brachydactyly |
OMIM:612626 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Short long bone, Short ribs, Coarse metaphyseal trabecularization, Metaphyseal widening, Limb und... |
OMIM:618961 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of the hand, Short 5th metacarpal, Brachydactyly |
ORPHA:1264 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Fibular aplasia, Clinodactyly of the 5th finger, Fused cervical vertebrae, Aplasia/Hypoplasia of ... |
ORPHA:3320 |
| Otopalatodigital Syndrome, Type I |
|
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor... |
OMIM:311300 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short long bone... |
OMIM:250220 |
| Thalidomide Embryopathy |
|
Abnormal fibula morphology, Aplasia/hypoplasia of the femur, Triphalangeal thumb, Radial club han... |
ORPHA:3312 |
| Urban-Rogers-Meyer Syndrome |
|
Flexion contracture of toe, Clinodactyly of the 5th finger, Abnormal diaphysis morphology, Recurr... |
ORPHA:3409 |
| Satoyoshi Syndrome |
|
Genu valgum, Osteolytic defects of the phalanges of the hand, Short metatarsal, Short metacarpal,... |
OMIM:600705 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Ap... |
ORPHA:1788 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Micrognathia, Brachyd... |
ORPHA:444002 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Palmoplantar keratoderma, Osteoarthritis, Abnormal pelvis bone morphology |
ORPHA:2206 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Wrist swelling, Generalized osteoporosis, Broad femoral neck, Abnormality of hand joint mobility,... |
ORPHA:1159 |
| Omodysplasia 1 |
|
Limited elbow extension, Popliteal pterygium, Fibular hypoplasia, Axillary pterygium, Rhizomelia,... |
OMIM:258315 |
| Anauxetic Dysplasia 3 |
|
Hip subluxation, Genu valgum, Broad middle phalanx of finger, Metaphyseal cupping, Femoral bowing... |
OMIM:618853 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Narrow greater sciatic notch, Short iliac bones, Abnormal metaphysis morphology, Abnormality of t... |
ORPHA:93316 |
| Adams-Oliver Syndrome 4 |
|
Aplasia of the distal phalanges of the toes, Absent middle phalanx of the 3rd toe, Aplasia of the... |
OMIM:615297 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... |
OMIM:609945 |
| Cranioectodermal Dysplasia |
|
Abnormal metaphysis morphology, Rhizomelia, Clinodactyly of the 5th finger, Abnormal diaphysis mo... |
ORPHA:1515 |
| Mckusick-Kaufman Syndrome |
|
Tarsal synostosis, Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly,... |
ORPHA:2473 |
| 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 |
| Greig Cephalopolysyndactyly Syndrome |
|
1-3 toe syndactyly, Y-shaped metatarsals, Metopic synostosis, Delayed cranial suture closure, Pos... |
OMIM:175700 |
| Orofaciodigital Syndrome Vi |
|
Fibular aplasia, Radial deviation of finger, 11 pairs of ribs, Tibial bowing, Postaxial hand poly... |
OMIM:277170 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Small hand, Cone-shaped epiphyses of the phalanges of the hand, Brachydactyly, Delayed epiphyseal... |
OMIM:618618 |
| Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus |
OMIM:125520 |
| Opsismodysplasia |
|
Abnormal metaphysis morphology, Hypoplastic pubic bone, Abnormal epiphysis morphology, Abnormally... |
ORPHA:2746 |
| Intellectual Developmental Disorder, Autosomal Dominant 59 |
|
Short palm, Short foot, Brachydactyly |
OMIM:618522 |
| Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Pes cavus, Swan neck-like deformities of the fingers, Metaphyseal cupping, Narrow iliac wing, Cox... |
OMIM:616716 |
| Atelosteogenesis, Type Iii |
|
Widened distal phalanges, Tombstone-shaped proximal phalanges, Rhizomelia, Sandal gap, Hitchhiker... |
OMIM:108721 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Cam... |
ORPHA:88630 |
| Osteogenesis Imperfecta, Type V |
|
Osteopenia, Anterior radial head dislocation, Hyperextensibility of the finger joints, Hyperexten... |
OMIM:610967 |
| Anauxetic Dysplasia 1 |
|
Limited elbow extension, Short finger, Rhizomelia, Small epiphyses, Flared metaphysis, Delayed os... |
OMIM:607095 |
| Achondroplasia |
|
Narrow greater sciatic notch, Limited elbow extension, Short proximal phalanx of finger, Rhizomel... |
ORPHA:15 |
| Pseudopseudohypoparathyroidism |
|
Short metacarpal, Osteoporosis, Short metatarsal, Brachydactyly |
OMIM:612463 |
| Pseudohypoparathyroidism, Type Ib |
|
Short metacarpal, Brachydactyly |
OMIM:603233 |
| Chst3-Related Skeletal Dysplasia |
|
Genu valgum, Irregular epiphyses, Rhizomelia, Small epiphyses, Cubitus valgus, Short metacarpal, ... |
ORPHA:263463 |
| Cardiospondylocarpofacial Syndrome |
|
Short palm, Synostosis of carpal bones, Brachydactyly |
ORPHA:3238 |
| Boomerang Dysplasia |
|
Abnormal bone ossification, Abnormal femur morphology, Abnormal tibia morphology, Abnormal metaca... |
ORPHA:1263 |
| Eiken Syndrome |
|
Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a... |
OMIM:600002 |
| Auriculoosteodysplasia |
|
Abnormality of the wrist, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the radius, Hip d... |
ORPHA:114 |
| Hand-Foot-Genital Syndrome |
|
Clinodactyly of the 5th finger, Proximal placement of thumb, Short first metatarsal, Short hallux... |
OMIM:140000 |
| Isolated Osteopoikilosis |
|
Sclerotic foci within carpal bones, Abnormal femur morphology, Tarsal sclerosis, Abnormal long bo... |
ORPHA:166119 |
| Potocki-Shaffer Syndrome |
|
Wormian bones, Single transverse palmar crease, 2-5 finger cutaneous syndactyly, Brachydactyly |
OMIM:601224 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Broad finger, Short phalanx of finger, Brachydactyly, Clinodactyly, Small hand |
OMIM:614684 |
| Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones, Micromelia |
OMIM:211990 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Short long bone, Brachydactyly |
OMIM:615633 |
| Osteogenesis Imperfecta, Type X |
|
Osteopenia, Genu valgum, Fibular bowing, Rhizomelia, Tibial bowing, Bowing of the long bones, Mic... |
OMIM:613848 |
| Atelosteogenesis, Type Ii |
|
Sandal gap, Bifid humerus, Short greater sciatic notch, Hitchhiker thumb, Flat acetabular roof, A... |
OMIM:256050 |
| Moebius Syndrome |
|
Radial deviation of finger, Split hand, Abnormal pelvic girdle bone morphology, Camptodactyly, Ar... |
OMIM:157900 |
| Acrodysostosis |
|
Abnormal femur morphology, Short metacarpal, Accelerated skeletal maturation, Cone-shaped epiphys... |
ORPHA:950 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Clinodactyly of the 5th finger, Deep palmar crease, Syndactyly, Brachydactyly, Joint hypermobilit... |
OMIM:619451 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Short finger, Irregular epiphyses, Rhizomelia, Broad thumb, Mesomelia, Metaphyseal widening, Brac... |
OMIM:612813 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Rickets, Genu valgum, Fibular bowing, Hypophosphatemic rickets, Cupped metaphyses of hand bones, ... |
OMIM:307800 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Hypoplasia of the radius, Rhizomelia, Sandal gap, Short ribs, Short humerus, Short femur, Short t... |
OMIM:607143 |
| Abruzzo-Erickson Syndrome |
|
Short toe, Brachydactyly, Radioulnar synostosis, Ulnar deviation of finger, Toe syndactyly |
ORPHA:921 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Short finger, Small epiphyses, Wormian bones, Broad palm, Flared iliac wing, Coxa vara, Metaphyse... |
OMIM:300232 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morp... |
OMIM:144750 |
| Poland Syndrome |
|
Hypoplasia of deltoid muscle, Short ribs, Unilateral oligodactyly, Syndactyly, Unilateral brachyd... |
OMIM:173800 |
| Cornelia De Lange Syndrome 2 |
|
Limited elbow movement, Proximal placement of thumb, Short foot, Micrognathia, Brachydactyly, Cli... |
OMIM:300590 |
| Pfeiffer Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Synostosis of carpal bones, Broad thumb, Symph... |
ORPHA:710 |
| Caffey Disease |
|
Joint hypermobility, Tibial bowing, Bowing of the legs, Periosteal thickening of long tubular bones |
OMIM:114000 |
| Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Arthrogryposis multiplex congenita, Areflexia of lower limbs, Calcaneovalgus deformity, Hyporefle... |
OMIM:162370 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Hypoplastic iliac wing, Tibial bowing, Delayed skeletal maturation, Short distal phalanx of finge... |
OMIM:210720 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Short foot, Brachydactyly |
OMIM:266265 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Unicoronal sy... |
OMIM:616300 |
| Weill-Marchesani Syndrome |
|
Limitation of joint mobility, Short thumb, Brachydactyly |
ORPHA:3449 |
| Bardet-Biedl Syndrome 3 |
|
Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
| Aminopterin Syndrome Sine Aminopterin |
|
Arachnodactyly, Rudimentary postaxial polydactyly of hands, Micrognathia, Syndactyly, Brachydacty... |
OMIM:600325 |
| Cranio-Osteoarthropathy |
|
Abnormal tibia morphology, Arthritis, Deviation of finger, Joint stiffness, Osteoarthritis, Abnor... |
ORPHA:1525 |
| Arthrogryposis, Distal, Type 2B1 |
|
Rocker bottom foot, Absent phalangeal crease, Ulnar deviation of the hand or of fingers of the ha... |
OMIM:601680 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Decreased cranial base ossification, Rhizomelia, Severe limb shortening, Metaphyseal cupping, Hyp... |
OMIM:151210 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Limited elbow extension, Genu valgum, Monkey wrench femoral neck, Joint dislocation, Clinodactyly... |
OMIM:618870 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Short iliac bones, Rhizomelia, Broad long bone diaphyses, Acetabular spurs, Metaphyseal widening,... |
OMIM:614376 |
| Hoxha-Aliu Syndrome |
|
Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Sho... |
OMIM:620662 |
| Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies |
|
Pes planus, Finger joint contracture, Symphalangism of the thumb, Increased femoral anteversion, ... |
OMIM:620494 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Adducted thumb, Single transverse palmar crease, Brachydactyly |
OMIM:620062 |
| Weill-Marchesani Syndrome 3 |
|
Joint stiffness, Brachydactyly |
OMIM:614819 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal epiphysis morphology, Delayed skeletal maturation, Brachydactyly |
ORPHA:2643 |
| Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome |
|
Palmoplantar keratoderma, Arachnodactyly, Micrognathia, Brachydactyly, Joint hypermobility, Cone-... |
ORPHA:2824 |
| Nicolaides-Baraitser Syndrome |
|
Broad distal phalanx of finger, Abnormal metacarpal morphology, Sandal gap, Joint dislocation, Ab... |
ORPHA:3051 |
| Spastic Paraplegia 20, Autosomal Recessive |
|
Pes cavus, Hammertoe, Short foot, Camptodactyly, Ulnar deviation of the hand, Flexion contracture... |
OMIM:275900 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Narrow greater sciatic notch, Rhizomelia, Flared metaphysis, Short long bone, Metaphyseal spurs, ... |
ORPHA:85167 |
| Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Calvarial osteosclerosis, Flared metaphysis, Abnormal pelvic girdle bone morphology, Metaphyseal ... |
OMIM:123000 |
| Marinesco-Sjögren Syndrome |
|
Abnormal metacarpal morphology, Abnormal finger morphology, Short palm, Brachydactyly, Hip dyspla... |
ORPHA:559 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Short tibia, Talipes equinovarus |
OMIM:620306 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Short 4th metacarpal, Rhizomelia, Femoral bowing, Broad thumb, Delayed skeletal maturation, Wormi... |
OMIM:619638 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Joint hypermobility, Clinodactyly of the 5th finger, Down-sloping shoulders, Brachydactyly |
ORPHA:1390 |
| Left Ventricular Noncompaction 1 |
|
Congestive heart failure, Patent ductus arteriosus, Palpitations, Atrial fibrillation, Noncompact... |
OMIM:604169 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Carpal bone hypoplasia, Cubitus valgus, Tapered phalanx of finger, Small epiphyses, Single interp... |
OMIM:611717 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Short long bone, Femoral bowing, Metaphyseal irregularity, Joint hypermobility, Short 4th metacar... |
OMIM:618019 |
| Schneckenbecken Dysplasia |
|
Snail-like ilia, Short long bone, Flat acetabular roof, Short ribs, Dumbbell-shaped long bone, Bi... |
OMIM:269250 |
| Waardenburg Syndrome, Type 3 |
|
Scapular winging, Camptodactyly of finger, Cutaneous finger syndactyly, Brachydactyly, Clinodacty... |
OMIM:148820 |
| Roifman Syndrome |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Broad femoral head, I... |
ORPHA:353298 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Preaxial polydactyly, Short long bone, Femoral bowing, Short ribs, Acetabular spurs, Postaxial po... |
OMIM:615503 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Hypoplasia of the ulna, Multiple joint dislocation, Carpal bone hypoplasia, Pes planus, Dislocate... |
OMIM:618395 |
| Ruvalcaba Syndrome |
|
Clinodactyly of the 5th finger, Proximal placement of thumb, Abnormal vertebral epiphysis morphol... |
ORPHA:3121 |
| Alopecia-Intellectual Disability Syndrome |
|
Delayed skeletal maturation, Split hand, Flexion contracture, Brachydactyly |
ORPHA:2850 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metatarsal, Short metacarpal, Short phalanx of finger, Brachydactyly, Advanced ossification... |
OMIM:614613 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Clinodactyly of the 5th finger, 11 pairs of ribs, Clinodactyly of the 2nd finger, Broad thumb, Sh... |
OMIM:620073 |
| Bardet-Biedl Syndrome 9 |
|
Polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Syndactyly, Brachydactyly, Postax... |
OMIM:615986 |
| Orofaciodigital Syndrome Type 1 |
|
Tarsal synostosis, Clinodactyly of the 5th finger, Reduced bone mineral density, Finger syndactyl... |
ORPHA:2750 |
| Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
|
Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ... |
OMIM:620663 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal pelvic girdle bone morphology, Slender long bone |
ORPHA:1506 |
| Craniofrontonasal Dysplasia |
|
Clinodactyly of the 5th finger, Sandal gap, Finger syndactyly, Camptodactyly of finger, Hand poly... |
ORPHA:1520 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Short tubular bones of the hand, Carpal bone hypoplasia, Flared femoral metaphysis, Genu valgum, ... |
OMIM:184253 |
| Stickler Syndrome, Type Iv |
|
Genu valgum, Flat capital femoral epiphysis, Hypoplastic iliac wing, Short metacarpal, Coxa vara,... |
OMIM:614134 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Preaxial polydactyly, Ulnar bowing, Single transverse palmar crease, 2-3 toe syndactyly, Short ri... |
OMIM:617866 |
| Roifman Syndrome |
|
Clinodactyly of the 5th finger, Single transverse palmar crease, Short metacarpal, Hip contractur... |
OMIM:616651 |
| Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Abnormal tricuspid valve morphology, Patent ductus arteriosus |
ORPHA:1208 |
| Non-Distal Deletion 10Q |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Overlapping fingers, ... |
ORPHA:1581 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Narrow greater sciatic notch, Short finger, Rhizomelia, Flared metaphysis, Metaphyseal cupping, F... |
OMIM:608940 |
| Laurence-Moon Syndrome |
|
Finger syndactyly, Bilateral single transverse palmar creases, Hand polydactyly, Brachydactyly |
ORPHA:2377 |
| Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Femoral bowing, Recurrent fractures, Increased susceptibility to fractures |
OMIM:615066 |
| Schneckenbecken Dysplasia |
|
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Increased fibular... |
ORPHA:3144 |
| Hall-Riggs Syndrome |
|
Delayed skeletal maturation, Osteoporosis, Metaphyseal dysplasia, Brachydactyly |
OMIM:234250 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Hypoplastic iliac wing, Abnormality of the calcaneus, Metaphyseal cupping of metacarp... |
ORPHA:163966 |
| Laron Syndrome |
|
Delayed skeletal maturation, Micrognathia, Short toe, Osteoarthritis, Brachydactyly, Abnormality ... |
ORPHA:633 |
| Grant Syndrome |
|
Joint dislocation, Joint hypermobility, Abnormal pelvic girdle bone morphology, Bowing of the lon... |
ORPHA:2097 |
| Bent Bone Dysplasia Syndrome 1 |
|
Hypoplastic pubic bone, Short clavicles, Coronal craniosynostosis, Decreased calvarial ossificati... |
OMIM:614592 |
| Rudiger Syndrome |
|
Single transverse palmar crease, Short digit, High axial triradius, Flexion contracture |
OMIM:268650 |
| Schaaf-Yang Syndrome |
|
Rocker bottom foot, Tapered finger, Short foot, Camptodactyly, Narrow palm, Flexion contracture, ... |
OMIM:615547 |
| Mietens Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal fibula morphology, Clinodactyly of the... |
ORPHA:2557 |
| Thanatophoric Dysplasia |
|
Abnormal metaphysis morphology, Abnormal ilium morphology, Abnormal sacroiliac joint morphology, ... |
ORPHA:2655 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Rhizomelia, Broad thumb, Mesomelia, Brachydactyly, Joint hypermobility |
ORPHA:171866 |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Genu valgum, Abnormal metacarpal morphology, Joint stiffness, Brachydactyly, Short distal phalanx... |
ORPHA:1295 |
| Al-Raqad Syndrome |
|
Joint hypermobility, Brachydactyly, Sandal gap |
OMIM:616459 |
| Cardioacrofacial Dysplasia 2 |
|
Genu valgum, Clinodactyly of the 5th finger, Clubbing, Postaxial hand polydactyly, Recurrent pate... |
OMIM:619143 |
| Satoyoshi Syndrome |
|
Abnormal metaphysis morphology, Abnormal femur morphology, Abnormality of the wrist, Abnormal hip... |
ORPHA:3130 |
| Trichorhinophalangeal Syndrome Type 2 |
|
Bilateral single transverse palmar creases, Genu valgum, Talipes, Joint dislocation, Cone-shaped ... |
ORPHA:502 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormal fibula morphology, Abnormality of the lower limb, Tibial bowing, Bowing of the long bone... |
ORPHA:3035 |
| Czech Dysplasia |
|
Short metatarsal, Flat capital femoral epiphysis, Narrow iliac wing, Limitation of joint mobility... |
OMIM:609162 |
| Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Cubitus valgus, Abnormal metatarsal morphology, Short long bone, Aplasia/Hypoplasia involving the... |
ORPHA:163654 |
| Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Short long bone, Femoral bowing, Metaphyseal spurs, Fractured rib, Short ribs, Wide c... |
OMIM:618188 |
| Nail-Patella Syndrome |
|
Abnormal femur morphology, Reduced bone mineral density, Dislocated radial head, Contracture of t... |
ORPHA:2614 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Split hand, Micromelia, Micrognathia, Brachydactyly, Craniosynostosis |
ORPHA:2145 |
| Menkes Disease |
|
Abnormal metaphysis morphology, Tarsal synostosis, Bowing of the long bones, Osteoporosis, Microg... |
ORPHA:565 |
| Bruck Syndrome 2 |
|
Osteopenia, Pterygium, Femoral bowing, Elbow flexion contracture, Flexion contracture, Knee flexi... |
OMIM:609220 |
| Hand-Foot-Genital Syndrome |
|
Clinodactyly of the 5th finger, Proximal placement of thumb, Short first metatarsal, Short hallux... |
ORPHA:2438 |
| Adams-Oliver Syndrome 6 |
|
Foot oligodactyly, Syndactyly, Brachydactyly |
OMIM:616589 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Hypoplasia of the radius, Short ribs, Hypoplastic ilia, Micromelia, Postaxial polydactyly, Syndac... |
OMIM:617895 |
| Fryns-Smeets-Thiry Syndrome |
|
Arachnodactyly, Micrognathia, Patellar aplasia, Joint hypermobility, Hip dislocation |
ORPHA:2058 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyses, Abnormally os... |
ORPHA:93284 |
| Congenital Heart Block |
|
Congestive heart failure, Hydrops fetalis, Bradycardia, Prolonged QTc interval, Gallop rhythm, Pa... |
ORPHA:60041 |
| Frontonasal Dysplasia 1 |
|
Radial deviation of finger, Pectoral muscle hypoplasia/aplasia, Postaxial hand polydactyly, Campt... |
OMIM:136760 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Tarsal synostosis, Delayed cranial suture closure, Coronal craniosynostosis, Delayed skeletal mat... |
ORPHA:85199 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Dislocated radial head, Limited elbow extension and supination, Short thumb, Brachydactyly, Joint... |
ORPHA:401935 |
| Fixed Subaortic Stenosis |
|
Pulmonic stenosis, Abnormal heart morphology, Diastolic heart murmur, Cardiomegaly, Left ventricu... |
ORPHA:3092 |
| Orofaciodigital Syndrome Type 2 |
|
Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the hand, Finger syndactyly, Adact... |
ORPHA:2751 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Rhizomelic arm shortening, Iliac crest serration, Short palm, Delayed skeletal ... |
ORPHA:93317 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Rickets, Fibular bowing, Enlargement of the wrists, Delayed epiphyseal ossification, Enlargement ... |
OMIM:600081 |
| Kniest Dysplasia |
|
Rhizomelia, Flared metaphysis, Splayed epiphyses, Delayed epiphyseal ossification, Tracheomalacia... |
OMIM:156550 |
| Platyspondylic Dysplasia, Torrance Type |
|
Abnormal carpal morphology, Metaphyseal cupping, Bowing of the long bones, Hypoplastic pelvis, Mi... |
ORPHA:85166 |
| Carpenter Syndrome 1 |
|
Flared iliac wing, Duplication of the proximal phalanx of the hallux, Genu varum, Coxa valga, Pos... |
OMIM:201000 |
| Dyggve-Melchior-Clausen Disease |
|
Abnormal hip bone morphology, Abnormal femoral head morphology, Short long bone, Limited knee ext... |
ORPHA:239 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Wormian bones, Camptodactyly of finger, Micrognathia, Brachydactyly |
ORPHA:2863 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Delayed skeletal maturation, Broad foot, Short toe, Brachydactyly |
ORPHA:3085 |
| Pde4D Haploinsufficiency Syndrome |
|
Short metatarsal, Upper limb undergrowth, Bilateral coxa valga, Short metacarpal, Broad metatarsa... |
ORPHA:439822 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Slender long bone, Decreased calvarial ossification, Micrognathia, Brachydactyly, Craniosynostosi... |
OMIM:618265 |
| Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Abnormality of the wrist, Abnormal shoulder morphology, Abnormal femoral neck/head morphology, Hi... |
ORPHA:85438 |
| Cono-Spondylar Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Epiphyseal dysplasia, Short lower limbs, Shor... |
ORPHA:420794 |
| Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Fibular bowing, Tibial bowing, Femoral bowing, Metaphyseal chondrodysplasia, Aplasia/Hypoplasia o... |
ORPHA:85165 |
| Acrofacial Dysostosis, Catania Type |
|
Short palm, Micrognathia, Single transverse palmar crease, Brachydactyly |
OMIM:101805 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Brachydactyly |
OMIM:610498 |
| Frank-Ter Haar Syndrome |
|
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Avascular necrosis, Genu recurvat... |
ORPHA:137834 |
| Rhyns Syndrome |
|
Osteopenia, Short long bone, Osteoporosis, Delayed skeletal maturation, Radial bowing, Brachydact... |
OMIM:602152 |
| Larsen Syndrome |
|
Broad distal phalanx of finger, Joint hypermobility, Large joint dislocations, Finger syndactyly,... |
ORPHA:503 |
| Catel-Manzke Syndrome |
|
Genu valgum, Clinodactyly of the 5th finger, Joint dislocation, Single transverse palmar crease, ... |
OMIM:616145 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S... |
OMIM:617925 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Metopic depression, Short clavicles, Abnormality of the lower limb, Steep acetabular ... |
ORPHA:313855 |
| Pelvis-Shoulder Dysplasia |
|
Aplasia/hypoplasia of the femur, Prominent protruding coccyx, Aplasia/Hypoplasia of the scapulae,... |
ORPHA:2839 |
| Tukel Syndrome |
|
Postaxial oligodactyly, Carpal synostosis, Syndactyly, Carpal bone aplasia |
OMIM:609428 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Short finger, 2-3 toe syndactyly, Tapered finger, Long fingers, Micrognathia, Broad hallux, Short... |
OMIM:618659 |
| Codas Syndrome |
|
Abnormal pelvic girdle bone morphology, Short metacarpal, Congenital hip dislocation, Delayed ske... |
ORPHA:1458 |
| Erythrokeratodermia Variabilis |
|
Patchy palmoplantar hyperkeratosis, Tapered finger, Brachydactyly |
ORPHA:317 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Clinodactyly of the 5th finger, Delayed skeletal maturation, Hypoplastic vertebral bodies, Brachy... |
ORPHA:2163 |
| Woolly Hair Nevus |
|
Brachydactyly |
ORPHA:79414 |
| Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Dextrocardia, Aortic regurgitation, Pulmonic stenosis, Patent duct... |
OMIM:607941 |
| Cardiospondylocarpofacial Syndrome |
|
Tarsal synostosis, Fused cervical vertebrae, Short foot, Fusion of middle ear ossicles, Pseudoepi... |
OMIM:157800 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Abnormal heart morphology, Cardiomegaly, Bicuspid aortic valve, Right vent... |
ORPHA:2041 |
| Oculomaxillofacial Dysostosis |
|
Abnormality of the humerus, Camptodactyly of finger, Micrognathia, Brachydactyly, Adducted thumb |
ORPHA:1794 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short long bone, Post... |
OMIM:263520 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Osteopetrosis, Calvarial osteosclerosis, Generalized osteosclerosis, Abnormal pelvic girdle bone ... |
OMIM:607634 |
| Thoracolaryngopelvic Dysplasia |
|
Hypoplastic iliac wing, Short ribs, Hypoplastic pelvis, Metaphyseal widening, Narrow pelvis bone |
OMIM:187760 |
| Cousin Syndrome |
|
Fibular aplasia, Rhizomelia, Clinodactyly of the 5th finger, Prominent protruding coccyx, Disloca... |
OMIM:260660 |
| Femoral-Facial Syndrome |
|
Limited elbow movement, Aplasia/hypoplasia of the femur, Short humerus, Syndactyly, Absent verteb... |
OMIM:134780 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Pulmonic stenosis, Hand polydactyly, Patent ductus arteriosus, Atrial septal defect, Ventricular ... |
OMIM:249670 |
| Bardet-Biedl Syndrome 17 |
|
Polydactyly, Mesoaxial polydactyly, Postaxial hand polydactyly, Short fourth metatarsal, Brachyda... |
OMIM:615994 |
| Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Flared metaphysis, Mesomelic/rhizomelic limb shortening, Short ribs,... |
ORPHA:2347 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Abnormal pel... |
OMIM:166600 |
| Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Abnormal finger morphology, Abnormality of the upper limb, Synostosis of carpal b... |
ORPHA:896 |
| Osteogenesis Imperfecta, Type Ii |
|
Absent ossification of calvaria, Crumpled long bones, Tibial bowing, Abnormal pelvic girdle bone ... |
OMIM:166210 |
| Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Cone-shaped epiphyses of the middle phalanges of the hand, Ivory epiphyses of the dis... |
OMIM:190350 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Cubitus valgus, Scapular winging, Camptodactyly of finger, Delayed skeletal maturation, Short toe... |
ORPHA:1327 |
| Orofaciodigital Syndrome Ii |
|
Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Flared metaphysis, Wormian bones... |
OMIM:252100 |
| Brachyolmia Type 3 |
|
Proximal femoral metaphyseal irregularity, Radial deviation of finger, Clinodactyly, Short femora... |
OMIM:113500 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polydactyly, Short long bone, Flat acetabular roof, Bowing of the long bones, Short ribs, Microme... |
OMIM:614091 |
| Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Rocker bottom foot, Congenital bilateral hip dislocation, Tibial bowing, Micrognathia, Limb under... |
ORPHA:453510 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Narrow greater sciatic notch, Dislocated radial head, Single transverse palmar crease, Delayed os... |
OMIM:617425 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Narrow greater sciatic notch, Flared metaphysis, Delayed epiphyseal ossification, Short ribs, Cen... |
OMIM:602557 |
| Lujan-Fryns Syndrome |
|
Camptodactyly of finger, Arachnodactyly, Micrognathia, Brachydactyly, Joint hypermobility |
ORPHA:776 |
| Penoscrotal Transposition |
|
Patellar aplasia, Bilateral single transverse palmar creases, Micrognathia, Clinodactyly of the 5... |
ORPHA:2842 |
| Kury-Isidor Syndrome |
|
Rocker bottom foot, Proximal placement of thumb, Finger syndactyly, Brachydactyly, Hip dysplasia,... |
OMIM:619762 |
| Hall-Riggs Syndrome |
|
Abnormal metaphysis morphology, Joint stiffness, Delayed skeletal maturation, Limb undergrowth, B... |
ORPHA:2107 |
| Phocomelia, Schinzel Type |
|
Hypoplasia of the radius, Fibular aplasia, Aplasia of the ulna, Abnormal tibia morphology, Talipe... |
ORPHA:2879 |
| Ivic Syndrome |
|
Hypoplasia of the radius, Triphalangeal thumb, Synostosis of carpal bones, Joint stiffness, Short... |
ORPHA:2307 |
| 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 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Joint hypermobility, Short femur, Genu valgum |
OMIM:617798 |
| Diamond-Blackfan Anemia 21 |
|
Genu valgum, Cubitus valgus, Sandal gap, Clinodactyly of the thumb, Micrognathia, Short toe, Brac... |
OMIM:620072 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Increased susceptibility to fractures, Osteopenia, Talipes equinovarus, Flared metaphysis, Dyspla... |
OMIM:615349 |
| Occipital Horn Syndrome |
|
Large iliac wing, Absent tibia, Aplasia/hypoplasia of the humerus, Joint hypermobility, Aplastic ... |
ORPHA:198 |
| Meier-Gorlin Syndrome 5 |
|
Slender long bone, Prominent metopic ridge, Delayed skeletal maturation, Hypoplasia of the capita... |
OMIM:613805 |
| Acrofrontofacionasal Dysostosis |
|
Abnormal epiphysis morphology, Micromelia, Broad thumb, Camptodactyly of finger, Brachydactyly, S... |
ORPHA:1784 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal QRS complex, Abnormality of blood circulation, Abnormal aortic arch morphology, Abnormal... |
ORPHA:860 |
| Jansen-De Vries Syndrome |
|
Short foot, Brachydactyly, Small hand |
OMIM:617450 |
| Roberts Syndrome |
|
Bilateral single transverse palmar creases, Radial deviation of finger, Mesomelic arm shortening,... |
ORPHA:3103 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Enlarged metaphyses, Bifid first metacarpal, Femoral bowing, Short metacarpal, Delayed skeletal m... |
OMIM:210710 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Clinodactyly of the 5th finger, Single transverse palmar crease, 2-3 toe syndactyly, Arthrogrypos... |
OMIM:236500 |
| Fibrochondrogenesis 1 |
|
Narrow greater sciatic notch, Fibular hypoplasia, Rhizomelia, Clinodactyly of the 5th finger, Wid... |
OMIM:228520 |
| Osteoglosphonic Dysplasia |
|
Abnormal bone ossification, Rhizomelia, Delayed skeletal maturation, Micrognathia, Brachydactyly,... |
ORPHA:2645 |
| Craniosynostosis 2 |
|
Triphalangeal thumb, Unicoronal synostosis, Bicoronal synostosis, Metopic synostosis, Brachydacty... |
OMIM:604757 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Synostosis of carpal bones, Joint stiffness, S... |
ORPHA:1005 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Wrist swelling, Osteoarthritis of the elbow, Knee osteoarthritis, Polyarticular arthropathy, Oste... |
ORPHA:2848 |
| Pseudohypoparathyroidism, Type Ia |
|
Short finger, Short metatarsal, Short metacarpal, Osteoporosis, Subcutaneous ossification, Short ... |
OMIM:103580 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Pes cavus, Sandal gap, Brachydactyly, Joint hypermobility, Pes planus, Short foot, Small hand |
OMIM:300354 |
| Omodysplasia 2 |
|
Fibular hypoplasia, Limited elbow flexion/extension, Clinodactyly of the 5th finger, Dislocated r... |
OMIM:164745 |
| Grange Syndrome |
|
Aortic regurgitation, Hypertension, Short palm, Syndactyly, Arterial stenosis, Patent ductus arte... |
ORPHA:79094 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Fibular hypoplasia, Irregular epiphyses, Early ossification of capital fe... |
OMIM:208500 |
| Temtamy Syndrome |
|
Short 2nd toe, Micrognathia, Brachydactyly, Pes planus, Talipes equinovarus, Hip dislocation |
OMIM:218340 |
| Saul-Wilson Syndrome |
|
Short metatarsal, Madelung deformity, Cone-shaped epiphyses of the phalanges of the hand, Flared ... |
OMIM:618150 |
| Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacarpal morphology, Finger syndacty... |
ORPHA:3258 |
| Vitamin K Antagonist Embryofetopathy |
|
Short distal phalanx of finger, Brachydactyly, Epiphyseal stippling |
ORPHA:1914 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Delayed pubic bone ossification, Irregular epiphyses, Clinodactyly of the 5th finger,... |
OMIM:618162 |
| Cleidocranial Dysplasia |
|
Abnormal thumb morphology, Genu valgum, Clinodactyly of the 5th finger, Abnormal metacarpal morph... |
ORPHA:1452 |
| Chitayat Syndrome |
|
Hallux valgus, Brachydactyly, Tracheomalacia |
OMIM:617180 |
| Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Patent ductus arteriosus, Bicuspid aortic valve, A... |
OMIM:618719 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Osteopenia, Hypoplastic sacrum, Rhizomelia, Short metatarsal, Short metacarpal, Short foot, Hypop... |
OMIM:614813 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Rickets, Hypophosphatemic rickets, Fibular bowing, Enlargement of the wrists, Delayed epiphyseal ... |
OMIM:300554 |
| Nail-Patella Syndrome |
|
Limited elbow extension, Pes planus, Clinodactyly of the 5th finger, Patellar hypoplasia, Glenoid... |
OMIM:161200 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Single transverse palmar crease, Camptodactyly, Micrognathia, Brachydactyly, Clinodactyly |
OMIM:613604 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Tibial b... |
ORPHA:96334 |
| Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Abnormal femoral epiphysis morphology, Brachydactyly |
ORPHA:3218 |
| Partial Atrioventricular Septal Defect |
|
Coronary sinus enlargement, Aortic valve stenosis, Heart murmur, Bicuspid aortic valve, Abnormal ... |
ORPHA:1330 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Abnormal hip bone morphology, Finger syndactyly, Synostosis of carpal bones, Joint stiffness, Cam... |
ORPHA:1323 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Sandal gap, Prominent fingertip pads, Camptodactyly, Broad thumb, Micrognathia, Mesomelia, Broad ... |
OMIM:618529 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Triangular shaped distal phalanges of the hand, Short long bone, Short ribs, Short metacarpal, Fl... |
OMIM:271665 |
| Genitopatellar Syndrome |
|
Knee flexion contracture, Hypoplastic ilia, Hypoplastic ischia, Short palm, Hip contracture, Micr... |
ORPHA:85201 |
| Joubert Syndrome 10 |
|
Brachydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly |
OMIM:300804 |
| Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Micrognathia, Clinodactyly of the 5th finger, Brachydactyly, Hip dysplasia |
OMIM:618381 |
| Alg6-Cdg |
|
Shortening of all distal phalanges of the fingers, Brachydactyly |
ORPHA:79320 |
| Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Bowed humerus, Short clavicles, Elbow flexion contracture, Hypoplastic pelvis, Bilateral talipes ... |
OMIM:618022 |
| Chromosome 17Q12 Duplication Syndrome |
|
Broad thumb, Micrognathia, Brachydactyly |
OMIM:614526 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu... |
OMIM:274000 |
| 20P13 Microdeletion Syndrome |
|
Polydactyly, Finger syndactyly, Clinodactyly, Brachydactyly |
ORPHA:313781 |
| Aarskog-Scott Syndrome |
|
Radial deviation of finger, Hyperextensibility of the finger joints, Single transverse palmar cre... |
OMIM:305400 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Brachydactyly, Joint hypermobility, Talipes e... |
ORPHA:3306 |
| Thanatophoric Dysplasia Type 2 |
|
Abnormal metaphysis morphology, Limitation of joint mobility, Micromelia, Brachydactyly, Joint hy... |
ORPHA:93274 |
| Feingold Syndrome |
|
Clinodactyly of the 5th finger, Deviation of the 2nd finger, Micrognathia, Brachydactyly, Toe syn... |
ORPHA:1305 |
| Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Genu valgum, Generalized osteoporosis, Short palm, Short femoral neck, Pes planus, Small joint hy... |
OMIM:184095 |
| Pycnodysostosis |
|
Increased bone mineral density, Absent frontal sinuses, Narrow iliac wing, Osteolytic defects of ... |
OMIM:265800 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Rickets, Hypophosphatemic rickets, Fibular bowing, Enlargement of the wrists, Delayed epiphyseal ... |
OMIM:241530 |
| Rubinstein-Taybi Syndrome |
|
Clinodactyly of the 5th finger, Joint hypermobility, Finger syndactyly, Broad thumb, Abnormal dis... |
ORPHA:783 |
| Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Genu recurvatum, Joint hypermobility, Pes planus, Calcaneovalgus deformity |
OMIM:225320 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Bilateral single transverse palmar creases, Multiple carpal ossification centers, Generalized bon... |
OMIM:143095 |
| Campomelic Dysplasia |
|
Fibular hypoplasia, Poorly ossified cervical vertebrae, 11 pairs of ribs, Tracheomalacia, Tracheo... |
ORPHA:140 |
| Meier-Gorlin Syndrome 4 |
|
Slender long bone, Genu recurvatum, Delayed skeletal maturation, Micrognathia, Patellar aplasia |
OMIM:613804 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Split hand, Rudimentary to a... |
ORPHA:958 |
| Chromosome 2Q37 Deletion Syndrome |
|
Type E brachydactyly, Short metacarpal, Short fourth metatarsal, Short phalanx of finger, Short toe |
OMIM:600430 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Limited elbow extension, Osteopenia, Genu valgum, Rhizomelia, Flat capital femoral epiphysis, Sma... |
OMIM:271510 |
| Long Qt Syndrome 16 |
|
Perimembranous ventricular septal defect, Bradycardia, Prolonged QTc interval, T-wave alternans, ... |
OMIM:618782 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Abnormality of the elbow, Delayed skeletal maturation, Brachydactyly |
ORPHA:2701 |
| Arthrogryposis, Distal, Type 5D |
|
Hypermobility of distal interphalangeal joints, Limited elbow movement, Limited shoulder movement... |
OMIM:615065 |
| Three M Syndrome 3 |
|
Clinodactyly of the 5th finger, Slender long bone, Prominent calcaneus, Hip dysplasia, Joint hype... |
OMIM:614205 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Rocker bottom foot, Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, C... |
ORPHA:488642 |
| Coffin-Siris Syndrome 6 |
|
Wormian bones, Micrognathia, Clinodactyly, Brachydactyly |
OMIM:617808 |
| Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Abnormal shoulder morphology, Short metacarpal, Abnormal pelvic girdle bone morphology, Micromeli... |
ORPHA:1422 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large iliac wing, Short ... |
OMIM:271640 |
| Seckel Syndrome 1 |
|
Clinodactyly of the 5th finger, Talipes, Sandal gap, Cone-shaped epiphyses of the phalanges of th... |
OMIM:210600 |
| 16P12.1P12.3 Triplication Syndrome |
|
2-3 toe syndactyly, Prominent fingertip pads, Brachydactyly, Short 5th finger, Hallux valgus, Tap... |
ORPHA:485405 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Abnormal metaphysis morphology, Reduced bone mineral density, Long fibula |
ORPHA:935 |
| Oncogenic Osteomalacia |
|
Abnormal fibula morphology, Abnormal femur morphology, Abnormal foot morphology, Bone pain, Tibia... |
ORPHA:352540 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Short mandibular rami, Clinodactyly of the 5th toe, Clinodactyly of the 5th finger, Short metatar... |
OMIM:170390 |
| Greenberg Dysplasia |
|
Short long bone, Short ribs, Short metacarpal, Decreased skull ossification, Multiple prenatal fr... |
OMIM:215140 |
| Specific Granule Deficiency 2 |
|
Osteopenia, Brachydactyly, Sandal gap |
OMIM:617475 |
| 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 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Abnormal metacarpal morphology, Brachydactyly |
ORPHA:93262 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Irregular epiphyses, Hip osteoarthritis, Hypoplastic iliac wing, Limitation of joint mobility, Co... |
OMIM:313400 |
| Grange Syndrome |
|
Syndactyly, Brachydactyly, Finger clinodactyly, Recurrent fractures, Increased susceptibility to ... |
OMIM:602531 |
| Multiple Osteochondromas |
|
Abnormal femur morphology, Limitation of knee mobility, Abnormal lower limb bone morphology, Defo... |
ORPHA:321 |
| Nivelon-Nivelon-Mabille Syndrome |
|
Short phalanx of finger, Short metacarpal, Brachydactyly, Micromelia |
OMIM:600092 |
| Dysostosis, Stanescu Type |
|
Abnormal metaphysis morphology, Increased bone mineral density, Wormian bones, Bowing of the long... |
ORPHA:1798 |
| Hypoglossia-Hypodactyly Syndrome |
|
Aplasia/Hypoplasia of fingers, Finger syndactyly, Adactyly, Split hand, Micrognathia, Upper limb ... |
ORPHA:989 |
| 2Q31.1 Microdeletion Syndrome |
|
Abnormal fibula morphology, Abnormal tibia morphology, Abnormal metacarpal morphology, Sandal gap... |
ORPHA:251014 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Patellar hypoplasia, Brachydactyly, Short fourth metatarsal |
ORPHA:464288 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Osteopenia, Proximal placement of thumb, Syndactyly, Brachydactyly, Microretrognathia, Short dist... |
OMIM:615789 |
| Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Talipes equinovarus, Brachydactyly, Clinodactyly, Camptodactyly |
OMIM:616354 |
| Osteoglophonic Dysplasia |
|
Short metacarpal, Broad metatarsal, Broad thumb, Craniosynostosis, Rhizomelia, Short palm, Short ... |
OMIM:166250 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Genu valgum, Flared metaphysis, Delayed epiphyseal ossification, Short long bone, Dis... |
OMIM:616007 |
| Osteogenesis Imperfecta, Type Iii |
|
Slender long bone, Tibial bowing, Multiple prenatal fractures, Decreased calvarial ossification, ... |
OMIM:259420 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Broad distal phalanx of finger, Clinodactyly of the 5th finger, Talipes, Micrognathia, Joint hype... |
OMIM:300990 |
| Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Carpal bone hypoplasia, Irregular epiphyses, Small epiphyses, Metaphyseal striations, Flared meta... |
OMIM:610442 |
| Gracile Bone Dysplasia |
|
Slender long bone, Decreased skull ossification, Brachydactyly, Flared metaphysis |
OMIM:602361 |
| Larsen-Like Syndrome |
|
Clinodactyly of the 5th finger, Joint dislocation, Radial deviation of the 4th finger, Delayed sk... |
OMIM:608545 |
| Lymphedema-Hypoparathyroidism Syndrome |
|
Increased carrying angle, Brachydactyly |
OMIM:247410 |
| Corneodermatoosseous Syndrome |
|
Abnormality of the hand, Abnormal metacarpal morphology, Abnormal finger morphology, Short palm, ... |
ORPHA:3194 |
| Acrootoocular Syndrome |
|
Short finger, Sandal gap, Short metacarpal, Small thenar eminence, Prominent calcaneus, Delayed s... |
ORPHA:2980 |
| Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Micrognathia, Brachydactyly |
ORPHA:436245 |
| 2Q37 Microdeletion Syndrome |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Tracheomalacia, Finge... |
ORPHA:1001 |
| 15Q24 Microdeletion Syndrome |
|
Abnormal thumb morphology, Proximal placement of thumb, Abnormal toe morphology, Brachydactyly, J... |
ORPHA:94065 |
| Fountain Syndrome |
|
Abnormal foot morphology, Abnormal metacarpal morphology, Large hands, Coarse metaphyseal trabecu... |
ORPHA:3219 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short femur, Short humerus, Tapered finger |
OMIM:618367 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Bilateral single transverse palmar creases, Broad thumb, Delayed skeletal maturation, Large hands... |
ORPHA:1770 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Rickets, Fibular bowing, Enlargement of the wrists, Delayed epiphyseal ossification, Enlargement ... |
OMIM:264700 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Postaxial hand polydactyly, Hypoplastic vertebral bodies, Brachyd... |
ORPHA:2916 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Rocker bottom foot, Dislocated radial head, Arachnodactyly, Syndactyly, Talipes calcaneovalgus, H... |
OMIM:265000 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Rocker bottom foot, Tarsal synostosis, Ulnar bowing, Femoral bowing, Camptodactyly, Humeroradial ... |
OMIM:201750 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Rickets, Fibular bowing, Enlargement of the wrists, Delayed epiphyseal ossification, Enlargement ... |
OMIM:277440 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Coarctation of aorta, Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology |
OMIM:601612 |
| Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
11 pairs of ribs, Elbow flexion contracture, Calcaneovalgus deformity, Camptodactyly, Congenital ... |
OMIM:616266 |
| Cleidocranial Dysplasia 1 |
|
Delayed pubic bone ossification, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic ... |
OMIM:119600 |
| Campomelia, Cumming Type |
|
Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Clubbing of toes, Brachydactyly |
ORPHA:1318 |
| Coffin-Siris Syndrome 2 |
|
Short distal phalanx of finger, Brachydactyly, Delayed skeletal maturation, Sandal gap |
OMIM:614607 |
| Cardiac Diverticulum |
|
Premature ventricular contraction, Aortic valve stenosis, Abnormal heart morphology, Arrhythmia, ... |
ORPHA:1686 |
| Meier-Gorlin Syndrome 1 |
|
Absent sternal ossification, Short ribs, Delayed skeletal maturation, Joint hypermobility, Coxa v... |
OMIM:224690 |
| Pycnodysostosis |
|
Short finger, Rhizomelia, Generalized osteosclerosis, Increased bone mineral density, Hypoplastic... |
ORPHA:763 |
| Pseudohypoparathyroidism, Type Ic |
|
Osteoporosis, Short metatarsal, Short metacarpal, Brachydactyly |
OMIM:612462 |
| Acrofacial Dysostosis, Catania Type |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Finger syndactyly, Sh... |
ORPHA:1786 |
| Familial Aortic Dissection |
|
Mucoid extracellular matrix accumulation, Aortic regurgitation, Descending thoracic aorta aneurys... |
ORPHA:229 |
| Geleophysic Dysplasia 3 |
|
Limited elbow movement, Epiphyseal dysplasia, Delayed skeletal maturation, Limb undergrowth, Brac... |
OMIM:617809 |
| Tonne-Kalscheuer Syndrome |
|
Broad thumb, Pes planus, Micrognathia, Brachydactyly |
OMIM:300978 |
| Intellectual Developmental Disorder, Autosomal Recessive 78 |
|
Cubitus valgus, Clinodactyly of the 5th finger, Delayed skeletal maturation, Microretrognathia, B... |
OMIM:620237 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... |
OMIM:276820 |
| Sponastrime Dysplasia |
|
Short long bone, Mesomelia, Metaphyseal irregularity, Joint hypermobility, Flattened humeral epip... |
ORPHA:93357 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Sandal gap, Single transverse palmar crease, Micromelia, Delayed skeletal maturation, Broad hallu... |
OMIM:614800 |
| Acromelic Frontonasal Dysostosis |
|
Patellar hypoplasia, Mesomelic leg shortening, Syndactyly, Preaxial hand polydactyly, Short tibia... |
OMIM:603671 |
| Endocrine-Cerebroosteodysplasia |
|
Preaxial polydactyly, Fibular bowing, Sandal gap, Hitchhiker thumb, Single transverse palmar crea... |
OMIM:612651 |
| Weill-Marchesani Syndrome 4 |
|
Joint stiffness, Brachydactyly |
OMIM:613195 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Short distal phalanx of finger, Brachydactyly |
ORPHA:1563 |
| Meier-Gorlin Syndrome 2 |
|
Slender long bone, Tracheomalacia, Camptodactyly, Delayed skeletal maturation, Micrognathia, Pate... |
OMIM:613800 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Short palm, Brachydactyly |
ORPHA:3217 |
| Aredyld Syndrome |
|
Abnormal pelvic girdle bone morphology, Brachydactyly |
ORPHA:1133 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Brachydactyly, Sandal gap |
ORPHA:2180 |
| Fibrochondrogenesis |
|
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Short ribs, Micromelia, Camptodact... |
ORPHA:2021 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Clinodactyly of the 5th finger, Single transverse palmar crease, 2-3 toe syndactyly, Coxa vara, R... |
OMIM:614701 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Abnormal thumb morphology, Atrioventricular canal defect, Abnormal aortic valve morphology, Proxi... |
ORPHA:1120 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Bilateral single transverse palmar creases, Camptodactyly of finger, Micrognathia, Brachydactyly |
ORPHA:2083 |
| Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus |
OMIM:614432 |
| Dent Disease 1 |
|
Rickets, Fibular bowing, Enlargement of the wrists, Delayed epiphyseal ossification, Enlargement ... |
OMIM:300009 |
| Premature Aging Syndrome, Penttinen Type |
|
Slender long bone, Recurrent fractures, Delayed cranial suture closure, Tibial bowing, Osteolytic... |
OMIM:601812 |
| Klippel-Trénaunay Syndrome |
|
Congestive heart failure, Gastrointestinal hemorrhage, Hydrops fetalis, Abnormal tricuspid valve ... |
ORPHA:90308 |
| Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Elbow flexion contracture, Split hand, Rudiment... |
OMIM:200980 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Rhizomelia, Epiphyseal stippling, Stippled calcification proximal humeral epiphyses, ... |
OMIM:222765 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Partial duplication of the phalanx of hand, Calvarial osteosclerosis, Camptodactyly, Broad thumb,... |
OMIM:616331 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Short metacarpal, Micrognathia, Metaphyseal dysplasia, Brachydactyly, Metaphyseal chondrodysplasi... |
OMIM:250410 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Abnormal metacarpal morphology, Finger syndactyly, Aplasia/Hypoplasia of the phalanges of the toe... |
ORPHA:1112 |
| Weaver Syndrome |
|
Radial deviation of finger, Hypoplastic iliac wing, Prominent fingertip pads, Short ribs, Limited... |
OMIM:277590 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Hypoplastic iliac wing, Micromeli... |
ORPHA:2637 |
| Moebius Syndrome |
|
Aplasia of the pectoralis major muscle, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the... |
ORPHA:570 |
| Infantile Systemic Hyalinosis |
|
Osteopenia, Osteoporosis, Micromelia, Joint stiffness, Camptodactyly of finger, Short palm, Brach... |
ORPHA:2176 |
| Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the upper limbs, Abnormality of the calcaneus, Micrognathia... |
ORPHA:40366 |
| Suleiman-El-Hattab Syndrome |
|
Polydactyly, Single transverse palmar crease, Microretrognathia, Brachydactyly, Clinodactyly |
OMIM:618950 |
| Rin2 Syndrome |
|
Joint hypermobility, Pes planus, Brachydactyly, Increased susceptibility to fractures |
ORPHA:217335 |
| Distal Deletion 10Q |
|
2-3 toe cutaneous syndactyly, Pes valgus, Clinodactyly of the 5th finger, Short metatarsal, Sanda... |
ORPHA:96148 |
| 8Q24.3 Microdeletion Syndrome |
|
Rocker bottom foot, Abnormality of the hand, Pes planus, Clinodactyly of the 5th finger, Talipes,... |
ORPHA:508488 |
| Adams-Oliver Syndrome |
|
Talipes, Abnormal metacarpal morphology, Finger syndactyly, Absent toe, Abnormality of the upper ... |
ORPHA:974 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Narrow greater sciatic notch, Limited elbow movement, Enlarged metaphyses, Short metacarpal, Dela... |
ORPHA:508533 |
| Microcephaly-Capillary Malformation Syndrome |
|
Short distal phalanx of finger, Clinodactyly, Brachydactyly |
OMIM:614261 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Congestive heart failure, Atrial fibrillation, Right bundle bran... |
ORPHA:1880 |
| Smith-Magenis Syndrome |
|
Short palm, Abnormal forearm morphology, Brachydactyly, Broad palm, Pes planus |
OMIM:182290 |
| Ellis-Van Creveld Syndrome |
|
Genu valgum, Talipes equinovarus, Hypoplastic iliac wing, Short long bone, Postaxial hand polydac... |
OMIM:225500 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Clinodactyly, Brachydactyly |
OMIM:618048 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Mesocardia, Bradycardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal hear... |
ORPHA:216694 |
| Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Slender long bone, Femoral retroversion, Tibial bowing, Femoral bowing, Short metacar... |
OMIM:610915 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Pes planus, Short metacarpal, Micrognathia, Metaphyseal chondrodysplasia, Brachydactyly, Craniosy... |
ORPHA:166035 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Pes valgus, Brachydactyly, Ankle clonus |
OMIM:619995 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Polydactyly, Short femur, Short humerus, Flexion contracture |
ORPHA:17 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Broad thumb, Broad distal phalanx of finger, Brachydactyly |
OMIM:617763 |
| Osteogenesis Imperfecta, Type I |
|
Osteopenia, Femoral bowing, Hip dysplasia, Wormian bones, Joint hypermobility, Finger joint hyper... |
OMIM:166200 |
| Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Atrioventricular canal defect, Triphalangeal thumb, Abnormal meta... |
ORPHA:392 |
| Trisomy 9P |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:236 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short metatarsal, Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Epi... |
OMIM:101800 |
| Distal Duplication 5Q |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Micrognathia, Absent thumb, Brachydactyly, Cran... |
ORPHA:96097 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Bicoronal synostosis, Tracheobronchomalacia, Short long bone, Joint stiffness, ... |
OMIM:619184 |
| Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Sandal gap, 2-3 toe syndactyly, Postaxial polydactyly, Micrognathia, 2-4 toe syndacty... |
OMIM:614099 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Abnormal bone ossification, Reduced bone mineral density, Hypoplastic iliac wing, Short long bone... |
ORPHA:93315 |
| Mosaic Trisomy 8 |
|
Deep plantar creases, Clinodactyly of the 5th finger, Deep palmar crease, Limitation of joint mob... |
ORPHA:96061 |
| 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 |
| Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Clinodactyly of the 5th finger, Short distal phalanx of toe, Delayed skeletal maturation, Symphal... |
ORPHA:1292 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Cubitus valgus, Talipes calcaneovarus, Micrognathia, Large hands, Flexion contracture, Brachydact... |
OMIM:300534 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic regurgitation, Coronary artery atherosclerosis, Ascending tubular aorta aneurysm, Aortic d... |
OMIM:132900 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Sandal gap, 3-4 toe syndactyly, Broad hallux, Brachydactyly, Clinodactyly |
OMIM:618727 |
| Pseudoaminopterin Syndrome |
|
Talipes valgus, Clinodactyly of the 5th toe, Limited elbow movement, Short 4th metacarpal, Hip su... |
ORPHA:221120 |
| Aorta Coarctation |
|
Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aor... |
ORPHA:1457 |
| Coffin-Lowry Syndrome |
|
Broad finger, Abnormal diaphysis morphology, Narrow iliac wing, Short metacarpal, Delayed skeleta... |
ORPHA:192 |
| Radio-Renal Syndrome |
|
Hypoplasia of the radius, Micromelia, Short palm, Micrognathia, Brachydactyly, Abnormality of the... |
ORPHA:3015 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocated radial head,... |
OMIM:268310 |
| Acromelic Frontonasal Dysplasia |
|
Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Talipes equinovarus |
ORPHA:1827 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia, Peripheral arterial stenosis, Patent ductus arteriosus, Ventricular septal def... |
OMIM:126320 |
| Amelia, Posterior, With Pelvic And Pulmonary Hypoplasia Syndrome |
|
Amelia |
OMIM:601360 |
| Meier-Gorlin Syndrome 3 |
|
Patellar hypoplasia, Talipes equinovarus, Slender long bone, Absent sternal ossification, Aplasia... |
OMIM:613803 |
| Aortic Arch Interruption |
|
Blood pressure substantially higher in arms than legs, Aortopulmonary window, Hypertension, Abnor... |
ORPHA:2299 |
| Developmental And Epileptic Encephalopathy 95 |
|
Short 4th metacarpal, Clinodactyly of the 5th finger, Single transverse palmar crease, Short four... |
OMIM:618143 |
| Coffin-Siris Syndrome 7 |
|
Sagittal craniosynostosis, Brachydactyly, Clinodactyly of the 5th finger |
OMIM:618027 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Hydrops fetalis, Atrial flutter, Lymphedema, Vascular ring, Patent ductus arteriosus, Overriding ... |
OMIM:601927 |
| Cartilage-Hair Hypoplasia |
|
Limited elbow extension, Metaphyseal cupping, Femoral bowing, Abnormal pelvic girdle bone morphol... |
OMIM:250250 |
| Cinca Syndrome |
|
Reduced bone mineral density, Joint dislocation, Brachydactyly, Abnormal joint morphology, Delaye... |
ORPHA:1451 |
| Müllerian Aplasia And Hyperandrogenism |
|
Cubitus valgus, Brachydactyly |
ORPHA:247768 |
| Cardiofacioneurodevelopmental Syndrome |
|
Brachydactyly, Micrognathia, Clinodactyly of the 5th finger, Camptodactyly |
OMIM:619123 |
| Monosomy 18P |
|
Micrognathia, Brachydactyly |
ORPHA:1598 |
| Three M Syndrome 2 |
|
Slender long bone, Scapular winging, Prominent calcaneus, Delayed skeletal maturation, Short 5th ... |
OMIM:612921 |
| Poland Syndrome |
|
Finger symphalangism, Abnormality of the hand, Aplasia of the pectoralis major muscle, Reduced bo... |
ORPHA:2911 |
| Saethre-Chotzen Syndrome |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Triphalangeal thumb, ... |
ORPHA:794 |
| Adams-Oliver Syndrome 5 |
|
Syndactyly, Brachydactyly |
OMIM:616028 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Hypophosphatemic rickets, Rickets of the lower limbs, Enlargement of the wrists, Polyarticular ar... |
ORPHA:289176 |
| Trisomy 8Q |
|
Deep palmar crease, Joint stiffness, Camptodactyly of finger, Micrognathia, Brachydactyly |
ORPHA:1752 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Rhizomelic leg shortening, Early ossification of capital femoral epiphyses, Aplasia/Hypoplasia in... |
ORPHA:397715 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Micrognathia, Brachydactyly, Congenital contracture |
OMIM:620156 |
| Hypoplastic Left Heart Syndrome |
|
Hypoplastic aortic arch, Mitral stenosis, Patent ductus arteriosus, Atrial septal defect, Mitral ... |
ORPHA:2248 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Proximal placement of thumb, Tracheomalacia, Short palm, Micrognathia, Syndactyly, Brachydactyly,... |
OMIM:217980 |
| Craniofacioskeletal Syndrome |
|
Clinodactyly of the 5th finger, Narrow iliac wing, Hypoplastic frontal sinuses, Short palm, Micro... |
OMIM:300712 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Bilateral single transverse palmar creases, Aplasia/hypoplasia of the femur, Broad distal phalanx... |
ORPHA:2636 |
| Otopalatodigital Syndrome, Type Ii |
|
Rocker bottom foot, Femoral bowing, Tibial bowing, Short metacarpal, Short ribs, Broad thumb, Del... |
OMIM:304120 |
| Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Delayed skeletal maturation, Brachydactyly |
OMIM:608624 |
| Isolated Epispadias |
|
Abnormal pelvic girdle bone morphology |
ORPHA:93928 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Congestive heart failure, Anomalous origin of left pulmonary artery from ascending aorta, Transpo... |
ORPHA:99050 |
| Caudal Regression Syndrome |
|
Aplasia/Hypoplasia of the sacrum, Abnormal iliac wing morphology, Abnormal pelvic girdle bone mor... |
ORPHA:3027 |
| Genitopalatocardiac Syndrome |
|
Micrognathia, Postaxial hand polydactyly, Brachydactyly |
ORPHA:2075 |
| Campomelic Dysplasia |
|
Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Tracheobronchomalaci... |
OMIM:114290 |
| Autosomal Dominant Coarctation Of Aorta |
|
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus, Ventricular sept... |
ORPHA:1455 |
| Hydrolethalus Syndrome 1 |
|
Upper limb undergrowth, Postaxial hand polydactyly, Duplication of phalanx of hallux, Micrognathi... |
OMIM:236680 |
| Rothmund-Thomson Syndrome Type 2 |
|
Finger symphalangism, Abnormal ulnar metaphysis morphology, Osteopenia, Aplasia/hypoplasia involv... |
ORPHA:221016 |
| You-Hoover-Fong Syndrome |
|
Clinodactyly, Brachydactyly |
OMIM:616954 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Increased susceptibility to fractures, Generalized joint hypermobility, Osteopenia, Clinodactyly ... |
ORPHA:251028 |
| Short-Rib Thoracic Dysplasia 12 |
|
Short finger, Short long bone, Short ribs, Short palm, Broad foot, Limb undergrowth, Short toe, B... |
OMIM:269860 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Limited elbow movement, Clinodactyly of the 5th finger, Proximal placement of thumb, Single trans... |
OMIM:610759 |
| Cranioectodermal Dysplasia 1 |
|
Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Broad distal phalanges of all fingers... |
OMIM:218330 |
| Cartilage-Hair Hypoplasia |
|
Abnormal bone ossification, Abnormal hip bone morphology, Tibial bowing, Abnormally ossified vert... |
ORPHA:175 |
| Oculodentodigital Dysplasia |
|
Abnormal metaphysis morphology, Palmoplantar keratoderma, Clinodactyly of the 5th finger, Abnorma... |
ORPHA:2710 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Drumstick terminal phalanges, Brachydactyly |
OMIM:612938 |
| Smith-Magenis Syndrome |
|
Clinodactyly of the 5th finger, Joint stiffness, Hand polydactyly, Micrognathia, Brachydactyly, T... |
ORPHA:819 |
| Alg8-Cdg |
|
Talipes equinovarus, Brachydactyly, Camptodactyly |
ORPHA:79325 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Tapered finger, Brachydactyly |
OMIM:619680 |
| Orofaciodigital Syndrome Type 6 |
|
Preaxial polydactyly, Mesoaxial polydactyly, Central Y-shaped metacarpal, Foot polydactyly, Hand ... |
ORPHA:2754 |
| Wiedemann-Rautenstrauch Syndrome |
|
Long foot, Talipes equinovarus, Slender long bone, Hypoplastic ilia, Short femur, Clinodactyly, L... |
OMIM:264090 |
| 17Q23.1Q23.2 Microdeletion Syndrome |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Patellar hypoplasia, ... |
ORPHA:261279 |
| Harrod Syndrome |
|
Joint hypermobility, Arachnodactyly, Abnormal shoulder morphology, Abnormal pelvic girdle bone mo... |
ORPHA:2115 |
| Orthostatic Hypotension 1 |
|
Joint hypermobility, Brachydactyly |
OMIM:223360 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Bilateral single transverse palmar creases, Micrognathia, Synostosis of carpal bones |
ORPHA:3191 |
| 3C Syndrome |
|
Abnormal hip bone morphology, Finger syndactyly, Missing ribs, Hand polydactyly, Micrognathia, Br... |
ORPHA:7 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Cone-shaped epiphyses of the phalanges of the hand, Camptodactyly, Delayed skeletal maturation, S... |
ORPHA:261323 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Bowed humerus, Short long bone, Short humerus, Flexion contracture, Brachydactyly, Trident pelvis |
OMIM:619479 |
| Short Syndrome |
|
Joint hypermobility, Short palm, Brachydactyly |
ORPHA:3163 |
| Orofaciodigital Syndrome Xix |
|
Postaxial hand polydactyly, Type A brachydactyly, Broad hallux, Toe syndactyly, Postaxial foot po... |
OMIM:620107 |
| Meier-Gorlin Syndrome 6 |
|
Sandal gap, Tracheobronchomalacia, Delayed skeletal maturation, Short middle phalanx of finger, P... |
OMIM:616835 |
| Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Talipes equinovarus, Brachydactyly, Clinodactyly, Camptodactyly |
ORPHA:397709 |
| 9Q33.3Q34.11 Microdeletion Syndrome |
|
Fixed elbow flexion, Patellar hypoplasia, Single transverse palmar crease, Bilateral coxa valga, ... |
ORPHA:495818 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Short foot, Micrognathia, Brachydactyly, Joint... |
ORPHA:1974 |
| Craniofrontonasal Syndrome |
|
Axillary pterygium, Clinodactyly of the 5th finger, Coronal craniosynostosis, Broad hallux, Conge... |
OMIM:304110 |
| Frontorhiny |
|
Camptodactyly of finger, Finger clinodactyly, Brachydactyly, Hypoplastic frontal sinuses |
ORPHA:391474 |
| Weill-Marchesani Syndrome 2 |
|
Short finger, Flexion contracture of toe, Short metatarsal, Broad phalanges of the hand, Elbow fl... |
OMIM:608328 |
| Larsen Syndrome |
|
Spatulate thumbs, Multiple carpal ossification centers, Short metatarsal, Talipes equinovarus, Tr... |
OMIM:150250 |
| Carey-Fineman-Ziter Syndrome |
|
Aplasia of the pectoralis major muscle, Micrognathia, Brachydactyly, Ulnar deviation of finger, T... |
ORPHA:1358 |
| Rothmund-Thomson Syndrome Type 1 |
|
Finger symphalangism, Abnormal ulnar metaphysis morphology, Osteopenia, Patellar hypoplasia, Meta... |
ORPHA:221008 |
| Bardet-Biedl Syndrome 1 |
|
Radial deviation of finger, Postaxial hand polydactyly, Foot polydactyly, Postaxial polydactyly, ... |
OMIM:209900 |
| Distal Deletion 9P |
|
Brachydactyly |
ORPHA:1642 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Pes planus, Abnormal foot morphology, Hammertoe, Sandal gap, Joint dislocation, Hallu... |
ORPHA:536532 |
| Kabuki Syndrome 2 |
|
Prominent fingertip pads, Micrognathia, Brachydactyly, Joint hypermobility, Short 5th finger, Hip... |
OMIM:300867 |
| Trisomy 20P |
|
Reduced bone mineral density, Abnormal foot morphology, Abnormal hip bone morphology, Talipes, Fi... |
ORPHA:261318 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Rocker bottom foot, Camptodactyly, Brachydactyly, Finger clinodactyly, Tapered finger |
OMIM:601353 |
| Weill-Marchesani Syndrome 1 |
|
Broad phalanges of the hand, Broad metacarpals, Broad metatarsal, Joint stiffness, Brachydactyly,... |
OMIM:277600 |
| Camurati-Engelmann Disease |
|
Genu valgum, Abnormal diaphysis morphology, Abnormal femur morphology, Abnormal tibia morphology,... |
ORPHA:1328 |
| Myhre Syndrome |
|
Abnormal metaphysis morphology, Large iliac wing, Joint stiffness, Short palm, Brachydactyly, Abn... |
ORPHA:2588 |
| Radio-Tartaglia Syndrome |
|
Pes cavus, Micrognathia, Brachydactyly, Pes planus, Tapered finger |
OMIM:619312 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Craniosynostosis, Microretrognathia, Brachydactyly |
ORPHA:457193 |
| Pseudohypoparathyroidism Type 1C |
|
Short 4th metacarpal, Short metatarsal, Increased bone mineral density, Short fifth metatarsal, B... |
ORPHA:79444 |
| Holt-Oram Syndrome |
|
Aplasia of the pectoralis major muscle, Proximal placement of thumb, Cervical C2/C3 vertebral fus... |
OMIM:142900 |
| Melnick-Needles Syndrome |
|
Limited elbow extension, Genu valgum, Osteolytic defects of the phalanges of the hand, Talipes eq... |
OMIM:309350 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal metaphysis morphology, Osteopetrosis, Abnormal metacarpal morphology, Finger syndactyly,... |
ORPHA:2658 |
| Saethre-Chotzen Syndrome |
|
Lambdoidal craniosynostosis, Clinodactyly of the 5th finger, Absent first metatarsal, Delayed cra... |
OMIM:101400 |
| Basal Cell Nevus Syndrome 1 |
|
Polydactyly, Short 4th metacarpal, Plantar pits, Palmar pits, Short distal phalanx of the thumb, ... |
OMIM:109400 |
| Townes-Brocks Syndrome 1 |
|
Clinodactyly of the 5th toe, Triphalangeal thumb, Short metatarsal, Talipes, Pseudoepiphyses of s... |
OMIM:107480 |
| Autosomal Recessive Robinow Syndrome |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal hip bone mor... |
ORPHA:1507 |
| Familial Osteodysplasia, Anderson Type |
|
Aplasia/hypoplasia of the femur, Clinodactyly of the 5th finger, Recurrent fractures, Missing rib... |
ORPHA:2769 |
| Recombinant 8 Syndrome |
|
Bilateral single transverse palmar creases, Deep plantar creases, Clinodactyly of the 5th finger,... |
ORPHA:96167 |
| Laubry-Pezzi Syndrome |
|
Elevated pulmonary artery pressure, Congestive heart failure, Perimembranous ventricular septal d... |
ORPHA:99094 |
| Scimitar Syndrome |
|
Mitral atresia, Left-to-right shunt, Abnormal heart morphology, Tricuspid atresia, Truncus arteri... |
ORPHA:185 |
| 15q26 overgrowth syndrome |
|
Abnormal finger morphology, Arachnodactyly, Camptodactyly of finger, Micrognathia, Abnormal toe m... |
DECIPHER:81 |
| Trisomy 8P |
|
Clinodactyly of the 5th toe, Clinodactyly of the 5th finger, Short 1st metacarpal, Clinodactyly o... |
ORPHA:264450 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Generalized osteoporosis, Micrognathia, Brachydactyly, Short distal phalanx of finger... |
ORPHA:2959 |
| Silver-Russell Syndrome |
|
Clinodactyly of the 5th finger, Sandal gap, Abnormal appendicular skeleton morphology, Delayed cr... |
ORPHA:813 |
| Dubowitz Syndrome |
|
Clinodactyly of the 5th finger, Sandal gap, Aplasia/Hypoplasia of the thumb, Delayed cranial sutu... |
ORPHA:235 |
| Apert Syndrome |
|
Limited elbow movement, Lambdoidal craniosynostosis, Delayed epiphyseal ossification, Finger synd... |
OMIM:101200 |
| Macs Syndrome |
|
Single transverse palmar crease, Osteoporosis, Micrognathia, Brachydactyly, Joint hypermobility, ... |
OMIM:613075 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Pes cavus, Delayed skeletal maturation, Carpal bone hypoplasia, Abnormal pelvic girdle bone morph... |
OMIM:601162 |
| Kleefstra Syndrome 1 |
|
Talipes equinovarus, Tracheobronchomalacia, Single transverse palmar crease, Brachydactyly |
OMIM:610253 |
| Absence Of The Pulmonary Artery |
|
Pulmonary edema, Congestive heart failure, Atrial flutter, Reduced left ventricular ejection frac... |
ORPHA:980 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Epiphyseal stippling, Stippled calcification in carpal bones, Abnormal pelvic girdle ... |
OMIM:302960 |
| Myhre Syndrome |
|
Short finger, Radial deviation of finger, Hypoplastic iliac wing, 2-3 toe syndactyly, Short long ... |
OMIM:139210 |
| Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Long toe, 2-3 toe syndactyly, Hypoplastic ilia, Short femur, Synovitis, Thin long bon... |
ORPHA:3455 |
| Nicolaides-Baraitser Syndrome |
|
Broad distal phalanx of finger, Short metatarsal, Sandal gap, Broad 2nd toe, Hallux valgus, Singl... |
OMIM:601358 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Ischemic stroke, Mucoid extracellular matrix accumulation, Cardiomegaly, Aortic regurgitation, De... |
ORPHA:91387 |
| Ear-Patella-Short Stature Syndrome |
|
Clinodactyly of the 5th finger, Joint hypermobility, Slender long bone, Mandibular aplasia, Campt... |
ORPHA:2554 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Camptodactyly, Broad thumb, Short phalanx of finger, Micrognathia, Mesomelia, Syndactyly, Brachyd... |
OMIM:616894 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Clinodactyly of the 5th finger, Delayed closure of the anterior fontanelle, Lower limb asymmetry,... |
ORPHA:96182 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Contracture of the proximal interphalangeal joint of the 4th finger, Craniosynostosis, Brachydact... |
OMIM:618050 |
| Meester-Loeys Syndrome |
|
Broad distal phalanx of finger, Joint dislocation, Camptodactyly, Arachnodactyly, Joint contractu... |
OMIM:300989 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Rhizomelic arm shortening, Short humerus, Short metacarpal, Brachydactyly |
ORPHA:508542 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Partial absence of toe, Bone pain, Absent frontal sinuses, Wormian bones, Bowing of t... |
ORPHA:955 |
| Ellis Van Creveld Syndrome |
|
Genu valgum, Cubitus valgus, Synostosis of carpal bones, Abnormal pelvic girdle bone morphology, ... |
ORPHA:289 |
| Osteopathia Striata With Cranial Sclerosis |
|
Fibular aplasia, Fibular hypoplasia, Flexion contracture of toe, Clinodactyly of the 5th finger, ... |
OMIM:300373 |
| Sclerosteosis 1 |
|
Abnormal pelvic girdle bone morphology, Deviation of finger, Cortically dense long tubular bones,... |
OMIM:269500 |
| Eisenmenger Syndrome |
|
Aortopulmonary window, Clubbing, Ascites, Left-to-right shunt, Abnormal heart morphology, Heart m... |
ORPHA:97214 |
| Pseudohypoparathyroidism Type 1A |
|
Short 4th metacarpal, Reduced bone mineral density, Short metatarsal, Increased bone mineral dens... |
ORPHA:79443 |
| Intellectual Disability, Buenos-Aires Type |
|
Reduced bone mineral density, Clinodactyly of the 5th finger, Abnormal pelvic girdle bone morphology |
ORPHA:3079 |
| Duane Retraction Syndrome |
|
Hypoplasia of the radius, Triphalangeal thumb, Talipes equinovarus, Aplasia/Hypoplasia of the thu... |
ORPHA:233 |
| Baller-Gerold Syndrome |
|
Limited elbow movement, Carpal bone aplasia, Oligodactyly, Short humerus, Absent thumb, Absent ra... |
OMIM:218600 |
| Floating-Harbor Syndrome |
|
Ivory epiphyses of the distal phalanges of the hand, Clinodactyly of the 5th finger, 11 pairs of ... |
OMIM:136140 |
| Down Syndrome |
|
Sandal gap, Hypoplastic iliac wing, Single transverse palmar crease, Short middle phalanx of the ... |
OMIM:190685 |
| Maternal Phenylketonuria |
|
Micrognathia, Bifid distal phalanx of the thumb, Clinodactyly, Brachydactyly |
ORPHA:2209 |
| White-Sutton Syndrome |
|
Wormian bones, Broad thumb, Broad foot, Micrognathia, Brachydactyly, Joint hypermobility, Hypopla... |
OMIM:616364 |
| Raine Syndrome |
|
Increased bone mineral density, Bowing of the long bones, Micromelia, Long hallux, Micrognathia, ... |
OMIM:259775 |
| Monosomy 13Q14 |
|
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micrognathia,... |
ORPHA:1587 |
| Genitopatellar Syndrome |
|
Knee flexion contracture, Inferior pubic ramus hypoplasia, Congenital hip dislocation, Hypoplasti... |
OMIM:606170 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Radial deviation of finger, Rhizomelia, Duplication of the distal phalanx of hand, Dislocated rad... |
OMIM:180700 |
| Kinsship Syndrome |
|
Polydactyly, Osteopenia, Fibular hypoplasia, Dislocated radial head, Single transverse palmar cre... |
OMIM:619297 |
| Prader-Willi Syndrome Due To Translocation |
|
Clinodactyly of the 5th finger, Short foot, Bilateral talipes equinovarus, Micrognathia, Brachyda... |
ORPHA:177907 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Aplasia/Hypoplasia involving bones of the skull, Craniosynostosis, Aplasia/Hypoplasia involving t... |
ORPHA:1521 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the 5th finger, Br... |
ORPHA:364577 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Aplasia of the epiglottis, Short clavicles, Short long bone, Postaxial hand polydactyly, Short ri... |
OMIM:617088 |
| Acrocallosal Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Postaxial hand polydactyly, Tapered finger, Du... |
OMIM:200990 |
| Autosomal Dominant Robinow Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Micromelia, Coxa vara, Short palm, Camptodacty... |
ORPHA:3107 |
| Adnp Syndrome |
|
Polydactyly, Sandal gap, Single transverse palmar crease, Abnormal finger morphology, 2-3 toe syn... |
ORPHA:404448 |
| Orofaciodigital Syndrome Type 4 |
|
Joint dislocation, Finger syndactyly, Postaxial hand polydactyly, Split hand, Micromelia, Camptod... |
ORPHA:2753 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Tracheomalacia, Micrognathia, Syndactyly, Brachydactyly, Hip dysplasia, Joint hypermobility |
OMIM:620654 |
| Cardiac-Urogenital Syndrome |
|
Mesocardia, Partial anomalous pulmonary venous return, Dextrocardia, Patent urachus, Patent ductu... |
OMIM:618280 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P... |
OMIM:619702 |
| Toriello-Lacassie-Droste Syndrome |
|
Short palm, Brachydactyly |
ORPHA:3339 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Clinodactyly of the 5th finger, Single transverse palmar crease, Micrognathia, Broad hallux, Brac... |
OMIM:617062 |
| Ciliary Dyskinesia, Primary, 52 |
|
Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Patent for... |
OMIM:620570 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Clinodactyly of the 5th finger, Joint stiffness, Flexion contracture, Brachydactyly, Talipes equi... |
ORPHA:847 |
| Chops Syndrome |
|
Cervical C2/C3 vertebral fusion, Brachydactyly, Tracheomalacia |
OMIM:616368 |
| Double Outlet Left Ventricle |
|
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... |
ORPHA:3427 |
| Gorlin Syndrome |
|
Palmar pits, Arachnodactyly, Brachydactyly, Plantar pits, Vertebral fusion |
ORPHA:377 |
| Ulbright-Hodes Syndrome |
|
Hypoplasia of the radius, Fibular aplasia, Short ribs, Short metacarpal, Humeroradial synostosis,... |
ORPHA:3404 |
| Bladder Exstrophy And Epispadias Complex |
|
Abnormal pelvic girdle bone morphology |
OMIM:600057 |
| Focal Dermal Hypoplasia |
|
Midclavicular hypoplasia, Short 4th metacarpal, Short finger, Midclavicular aplasia, Short metata... |
OMIM:305600 |
| Carpenter Syndrome 2 |
|
Preaxial polydactyly, Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Hitchhiker... |
OMIM:614976 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Single transverse palmar crease, Prominent fingertip pads, Short palm, Brachydactyly, Pes planus,... |
ORPHA:466950 |
| Orofaciodigital Syndrome I |
|
Polydactyly, Radial deviation of finger, Short 2nd toe, Syndactyly, Brachydactyly, Microretrognat... |
OMIM:311200 |
| Truncus Arteriosus |
|
Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ... |
ORPHA:3384 |
| Developmental And Epileptic Encephalopathy 100 |
|
Bilateral camptodactyly, Single transverse palmar crease, Elbow flexion contracture, Micrognathia... |
OMIM:619777 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Tapered finger, Short foot, Camptodactyly, Delayed skeletal maturation, Micrognathia, Flexion con... |
OMIM:309590 |
| Ayme-Gripp Syndrome |
|
Delayed cranial suture closure, Camptodactyly, Brachydactyly, Radioulnar synostosis, Tapered finger |
OMIM:601088 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Short thumb, Clinodactyly of the 5th finger, Tapered finger, Brachydactyly |
ORPHA:477993 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Brachydactyly |
ORPHA:168577 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Pectoral muscle hypoplasia/aplasia, Camptodactyly of finger, Brachydactyly, Aplasia/Hypoplasia of... |
ORPHA:306542 |
| Robinow Syndrome |
|
Mesomelic arm shortening, Missing ribs, Micrognathia, Mesomelia, Bifid distal phalanx of the thum... |
ORPHA:97360 |
| Smith-Lemli-Opitz Syndrome |
|
Rhizomelia, Proximal placement of thumb, Abnormal metacarpal morphology, Finger syndactyly, 2-3 t... |
ORPHA:818 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Anomalous origin of right pulmonary artery from ascending aorta, Coarctatio... |
OMIM:610338 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hip subluxation, Fibular hypoplasia, Cervical C2/C3 vertebral fusion, Tracheomalacia, Micrognathi... |
ORPHA:444077 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Pes cavus, Proportionate shortening of all digits, Flexion contracture of toe, Short foot, Deep l... |
ORPHA:280633 |
| Down Syndrome |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Sandal gap, Delayed s... |
ORPHA:870 |
| Cranioectodermal Dysplasia 2 |
|
Polydactyly, Rhizomelia, Metopic synostosis, Short ribs, Postaxial hand polydactyly, Micrognathia... |
OMIM:613610 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Contracture of the proximal interphalangeal joint of the 5th finger, Long foot, Clinodactyly of t... |
OMIM:280000 |
| Mgat2-Cdg |
|
Osteopenia, Brachydactyly |
ORPHA:79329 |
| Jacobsen Syndrome |
|
Clinodactyly of the 5th finger, Missing ribs, Micrognathia, Flexion contracture, Brachydactyly |
OMIM:147791 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Single transverse palmar crease, Short palm, Brachydactyly, Pes planus, Pes valgus |
ORPHA:466943 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Perimembranous ventricular septal defect, Transposition of the great arteries, Total absence of t... |
OMIM:600001 |
| Floating-Harbor Syndrome |
|
11 pairs of ribs, Dislocated radial head, Short clavicles, Short metacarpal, Delayed skeletal mat... |
ORPHA:2044 |
| Arboleda-Tham Syndrome |
|
Enlarged proximal interphalangeal joints, Genu valgum, Deviation of the hallux, Hammertoe, Sandal... |
OMIM:616268 |
| Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Short toe, Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:1519 |
| Roberts-Sc Phocomelia Syndrome |
|
Hypoplasia of the ulna, Tetraphocomelia, Radial deviation of finger, Aplasia of the ulna, Abnorma... |
OMIM:268300 |
| Loeys-Dietz Syndrome 2 |
|
Absent distal phalanges, Camptodactyly, Osteoporosis, Postaxial polydactyly, Arachnodactyly, Prot... |
OMIM:610168 |
| Peters-Plus Syndrome |
|
Limited elbow movement, Square pelvis bone, Pes cavus, Rhizomelia, Short metatarsal, Proximal pla... |
OMIM:261540 |
| Pgm3-Cdg |
|
Osteomyelitis, Brachydactyly, Decreased/absent ankle reflexes |
ORPHA:443811 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Clinodactyly of the 5th finger, Talipes, Joint hypermobility, Single transverse palmar crease, Pr... |
OMIM:612474 |
| Toriello-Carey Syndrome |
|
Micrognathia, Clinodactyly, Brachydactyly |
ORPHA:3338 |
| Pallister-Hall Syndrome |
|
Short 4th metacarpal, Bilateral postaxial polydactyly, Talipes, Polydactyly affecting the 4th fin... |
ORPHA:672 |
| Noonan Syndrome |
|
Osteopenia, Clinodactyly of the 5th finger, Delayed skeletal maturation, Micrognathia, Brachydact... |
ORPHA:648 |
| Barber-Say Syndrome |
|
Brachydactyly, Micrognathia, Clinodactyly of the 5th finger, Talipes equinovarus |
OMIM:209885 |
| Charge Syndrome |
|
Hypoplasia of the ulna, Absent tibia, Hand monodactyly, Bilateral talipes equinovarus, Hand polyd... |
OMIM:214800 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Atrioventricular canal defect, Double inlet left ventricle, Dextrocardia, Patent ductus arteriosu... |
OMIM:270100 |
| Marfan Syndrome |
|
Limited elbow extension, Narrow foot, Pes cavus, Talipes, Hammertoe, Genu recurvatum, Camptodacty... |
OMIM:154700 |
| Microphthalmia, Syndromic 6 |
|
Polydactyly, Abnormality of the hand, Lambdoidal craniosynostosis, Clinodactyly of the 5th finger... |
OMIM:607932 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Cubitus valgus, Short metatarsal, Short metacarpal, Brachydactyly, Short distal phalanx of finger |
OMIM:617157 |
| Witteveen-Kolk Syndrome |
|
Radial deviation of finger, Clinodactyly of the 5th finger, Proximal placement of thumb, Short fo... |
OMIM:613406 |
| 1P36 Deletion Syndrome |
|
Clinodactyly of the 5th finger, 11 pairs of ribs, Delayed cranial suture closure, Lower limb asym... |
ORPHA:1606 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Genu valgum, Radial deviation of finger, Slender finger, Delayed skeletal maturation, Clinodactyl... |
OMIM:309580 |
| Adams-Oliver Syndrome 1 |
|
Talipes equinovarus, Toe syndactyly, Brachydactyly |
OMIM:100300 |
| Holoprosencephaly |
|
Joint hypermobility, Hand polydactyly, Talipes, Brachydactyly |
ORPHA:2162 |
| Elsahy-Waters Syndrome |
|
Cutaneous finger syndactyly, Shortening of all phalanges of fingers, Cervical C2/C3 vertebral fus... |
OMIM:211380 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter... |
ORPHA:99125 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Pes cavus, Clinodactyly of the 5th finger, 11 pairs of ribs, Short foot, Camptodactyly, Metatarsu... |
OMIM:607872 |
| Charge Syndrome |
|
Polydactyly, Abnormal tibia morphology, Clinodactyly of the 5th finger, Talipes, Abnormality of b... |
ORPHA:138 |
| Peters Plus Syndrome |
|
Clinodactyly of the 5th finger, Rhizomelia, Micromelia, Micrognathia, Short toe, Brachydactyly, T... |
ORPHA:709 |
| Noonan Syndrome 1 |
|
Radial deviation of finger, Cubitus valgus, Synovitis, Micrognathia, Brachydactyly, Clinodactyly |
OMIM:163950 |
| Cowden Syndrome |
|
Palmoplantar keratoderma, Brachydactyly |
ORPHA:201 |
| Bardet-Biedl Syndrome |
|
Finger syndactyly, Postaxial polydactyly, Syndactyly, Brachydactyly, Joint hypermobility, Talipes... |
ORPHA:110 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Accelerated skeletal maturation, Brachydactyly |
ORPHA:293987 |
