| Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
| Brachydactyly, Type A3 |
|
Type A brachydactyly, Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphy... |
OMIM:112700 |
| Thiemann Disease, Familial Form |
|
Limitation of joint mobility, Abnormal epiphysis morphology, Abnormal metaphysis morphology, Avas... |
ORPHA:3314 |
| Sugarman Brachydactyly |
|
Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... |
OMIM:272150 |
| Brachydactyly, Type D |
|
Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly |
OMIM:113200 |
| Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... |
ORPHA:93405 |
| Upington Disease |
|
Flat capital femoral epiphysis, Premature epimetaphyseal fusion, Broad femoral neck, Arthralgia o... |
ORPHA:3408 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... |
ORPHA:2639 |
| Talonavicular Coalition |
|
Coalescence of tarsal bones, Short hallux, Proximal/middle symphalangism of 5th finger, Abnormali... |
OMIM:186750 |
| Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... |
OMIM:112910 |
| Familial Digital Arthropathy-Brachydactyly |
|
Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges... |
ORPHA:85169 |
| Tarsal-Carpal Coalition Syndrome |
|
Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ... |
OMIM:186570 |
| Brachydactyly, Type A4 |
|
Type A brachydactyly, Short middle phalanx of the 2nd finger, Talipes calcaneovalgus, Congenital ... |
OMIM:112800 |
| Upington Disease |
|
Flattened femoral head, Broad femoral neck, Arthralgia of the hip |
OMIM:191520 |
| Cleidorhizomelic Syndrome |
|
Brachydactyly, Rhizomelia, Diaphyseal thickening, Clinodactyly of the 5th finger, Short middle ph... |
ORPHA:1453 |
| Digital Arthropathy-Brachydactyly, Familial |
|
Brachytelomesophalangy, Short middle phalanx of finger, Radial deviation of finger, Short distal ... |
OMIM:606835 |
| Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
|
Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology |
OMIM:259270 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Elbow d... |
ORPHA:968 |
| Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... |
ORPHA:93406 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat... |
OMIM:147891 |
| Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
| Dysplasia Epiphysealis Hemimelica |
|
Pes planus, Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiff... |
ORPHA:1822 |
| Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
| Brachydactyly, Type A1, C |
|
Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi... |
OMIM:615072 |
| Blount Disease, Infantile |
|
Genu varum, Osteochondritis dissecans, Abnormality of the proximal tibial epiphysis |
OMIM:188700 |
| Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
| Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... |
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, Short foot, Short middle phalanx of f... |
ORPHA:93396 |
| Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin... |
OMIM:610017 |
| Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor... |
ORPHA:2779 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... |
OMIM:619598 |
| Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... |
ORPHA:2492 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal fibula ... |
ORPHA:1836 |
| Brachydactyly, Type B2 |
|
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:611377 |
| Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
| Brachydactyly, Type A1, B |
|
Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of... |
OMIM:607004 |
| Multiple Synostoses Syndrome 3 |
|
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Metatarsal... |
OMIM:612961 |
| Brachydactyly, Type A1 |
|
Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi... |
OMIM:112500 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling |
OMIM:600121 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
| Synostoses, Tarsal, Carpal, And Digital |
|
Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... |
OMIM:186400 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... |
ORPHA:3246 |
| Nievergelt Syndrome |
|
Tarsal synostosis, Radial head subluxation, Genu valgum, Radioulnar synostosis, Talipes equinovar... |
OMIM:163400 |
| Triphalangeal Thumbs With Brachyectrodactyly |
|
Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly |
OMIM:190680 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
| Liebenberg Syndrome |
|
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... |
OMIM:186550 |
| Tarsal-Carpal Coalition Syndrome |
|
Abnormality of the ankle, Tarsal synostosis |
ORPHA:1412 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... |
ORPHA:1891 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
| Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... |
OMIM:226900 |
| Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... |
OMIM:611263 |
| Symphalangism, Proximal, 1A |
|
Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Metacarpophalangeal sy... |
OMIM:185800 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
| Jackson-Weiss Syndrome |
|
Broad hallux, Calcaneonavicular fusion, Hallux varus, Craniosynostosis, Broad first metatarsal, 2... |
OMIM:123150 |
| Symphalangism, Distal |
|
Absent dorsal skin creases over affected joints, Craniosynostosis, Distal foot symphalangism, Dis... |
OMIM:185700 |
| Brachydactyly, Type A2, With Microcephaly |
|
Type A2 brachydactyly, Absent middle phalanx of 2nd finger, Thumbs hypoplastic with bulbous tips,... |
OMIM:211369 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Abnormal thumb morphology, Joint stiffness, Type A brachydactyly, Abnormal metacarpal morphology |
ORPHA:1078 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... |
ORPHA:2633 |
| Chromosome 17Q23.1-Q23.2 Duplication Syndrome |
|
Coxa valga, Genu valgum, Hip dysplasia, Talipes equinovarus, Acetabular dysplasia |
OMIM:613618 |
| Multiple Synostoses Syndrome 4 |
|
Pes planus, Overlapping toe, Tarsal synostosis, Broad foot, Brachydactyly |
OMIM:617898 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
| Multiple Synostoses Syndrome |
|
Brachydactyly, Joint stiffness, Symphalangism affecting the phalanges of the hand, Cone-shaped ep... |
ORPHA:3237 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... |
ORPHA:93308 |
| Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Triphalangeal thumb, Synostosis of... |
ORPHA:957 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Delayed closure of the anterior fontanelle, Abnormal foot morphology, Talipes equinovalgus, Hip d... |
OMIM:605274 |
| Gombo Syndrome |
|
Clinodactyly, Radial deviation of finger, Brachydactyly |
OMIM:233270 |
| Heart-Hand Syndrome, Spanish Type |
|
Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydactyly |
OMIM:140450 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia |
OMIM:156232 |
| Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
| Coxopodopatellar Syndrome |
|
Abnormality of the knee, Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morpholog... |
ORPHA:1509 |
| Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
| Symphalangism Of Toes |
|
Synostosis involving bones of the toes |
OMIM:185600 |
| Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Type B brachydactyly, Broad thumb, Camptodactyly of finger, Short distal phalanx of finger |
ORPHA:1471 |
| Exostoses With Anetodermia And Brachydactyly, Type E |
|
Type E brachydactyly |
OMIM:133690 |
| Distal Arthrogryposis Type 1 |
|
Camptodactyly of finger, Rocker bottom foot, Talipes, Joint stiffness, Ulnar deviation of finger,... |
ORPHA:1146 |
| Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
| Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity... |
OMIM:249700 |
| Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
| Arthrogryposis, Distal, Type 2B2 |
|
Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Tali... |
OMIM:618435 |
| Brachydactyly Type C |
|
Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af... |
ORPHA:93384 |
| Tibial Torsion, Bilateral Medial |
|
Bowing of the legs, Tibial torsion |
OMIM:188800 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, Broad ischia, Flat acetab... |
OMIM:609052 |
| Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia |
OMIM:165590 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Joint stiffness, Tarsal synostosis, Posterior fusion of lumbosacral vertebrae |
ORPHA:2064 |
| Blount Disease |
|
Abnormality of the knee, Tibial bowing, Abnormal tibial metaphysis morphology, Abnormality of the... |
ORPHA:2768 |
| Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
| Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
| Brachydactyly Type B |
|
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
| Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
| Brachydactyly Type B2 |
|
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
| Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
| Tetrasomy X |
|
Joint hyperflexibility, Radioulnar synostosis, Hip dysplasia, Clinodactyly of the 5th finger, Bra... |
ORPHA:9 |
| Beukes Hip Dysplasia |
|
Flat capital femoral epiphysis, Avascular necrosis of the capital femoral epiphysis, Hip dysplasi... |
OMIM:142669 |
| Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ... |
OMIM:250460 |
| Coloboma Of Macula With Type B Brachydactyly |
|
Type B brachydactyly, Broad distal phalanx of the thumb, Absent distal phalanges, Bifid distal ph... |
OMIM:120400 |
| Banki Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo... |
ORPHA:1228 |
| Digitotalar Dysmorphism |
|
Rocker bottom foot, Camptodactyly of finger, Ulnar deviation of finger |
OMIM:126050 |
| Humero-Radial Synostosis |
|
Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Elbow dislocation, Limitation of joint mobili... |
ORPHA:3265 |
| Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Epiphyseal dysplasia, Flat distal femoral epiphysis, Abnormality of the hand, Proximal femoral me... |
OMIM:609324 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s... |
ORPHA:1275 |
| Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia |
ORPHA:71289 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Flexion contracture, Absent phalangeal crease, Antec... |
OMIM:618469 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
| Metaphyseal Anadysplasia 2 |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... |
OMIM:613073 |
| Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... |
ORPHA:488232 |
| Tarsal Coalition |
|
Tarsal synostosis |
OMIM:186850 |
| Sheldon-Hall Syndrome |
|
Ulnar deviation of the wrist, Tarsal synostosis, Joint stiffness, Micrognathia, Adducted thumb, U... |
ORPHA:1147 |
| Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... |
OMIM:607078 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s... |
OMIM:605282 |
| Hypertension And Brachydactyly Syndrome |
|
Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly |
OMIM:112410 |
| Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Carpal synostosis, Abnormality of the ankle, Abnormality of the wrist, Tarsal synostosis |
ORPHA:2010 |
| Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... |
ORPHA:2378 |
| Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... |
ORPHA:750 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
| Brachydactyly-Arterial Hypertension Syndrome |
|
Short metacarpal, Short phalanx of finger, Brachydactyly |
ORPHA:1276 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... |
ORPHA:157801 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... |
ORPHA:85170 |
| Eiken Syndrome |
|
Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Abnormal fingertip m... |
ORPHA:79106 |
| Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Type E brachydactyly |
ORPHA:1962 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... |
ORPHA:52056 |
| Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal pelvic gi... |
ORPHA:3429 |
| Peripheral Dysostosis |
|
Joint stiffness, Osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly... |
ORPHA:1795 |
| Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger |
OMIM:186100 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
| Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand |
OMIM:610140 |
| Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Abnormality of the hand, Abnormal foot morphology, Osteoarthritis, Osteolysis,... |
ORPHA:1657 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Micrognathia, Partial duplication of the proximal phalanx of the 3rd finger, Cutaneous finger syn... |
ORPHA:363417 |
| Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
| Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
| Brachydactyly, Type A2 |
|
Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul... |
OMIM:112600 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Delayed skeletal maturation, Fibular hypoplasi... |
OMIM:612447 |
| Feingold Syndrome Type 2 |
|
Short thumb, Toe syndactyly, Short middle phalanx of finger, Brachydactyly |
ORPHA:391646 |
| Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Hypoplasia of the odontoid process, Coxa vara, Short femoral neck, Corner fracture of metaphysis,... |
OMIM:184255 |
| Brachydactyly Type A7 |
|
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... |
ORPHA:93397 |
| 2q37 monosomy |
|
Brachydactyly |
DECIPHER:44 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... |
OMIM:617719 |
| Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Abnormality of the elbow, Osteoar... |
ORPHA:429 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Bowing of the long bones, Abnormal tibia morphology, Abnormal femur morphology, Abnormal pelvic g... |
ORPHA:1802 |
| Syndactyly Type 3 |
|
Finger syndactyly, Short toe, Camptodactyly of finger |
ORPHA:93404 |
| Pacman Dysplasia |
|
Epiphyseal stippling, Bowing of the long bones |
OMIM:167220 |
| Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
| Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... |
OMIM:607778 |
| Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... |
OMIM:228900 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Osteopenia, Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Knee osteoarthritis... |
ORPHA:2619 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Osteoporosis, Joint hyperflexibility, Wormian bones, Short distal phalanx of finger, Brachydactyly |
ORPHA:2787 |
| Brachydactyly Type E |
|
Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper... |
ORPHA:93387 |
| Chromosome 15Q13.3 Deletion Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly |
OMIM:612001 |
| Hirschsprung Disease With Type D Brachydactyly |
|
Short thumb, Type D brachydactyly |
OMIM:306980 |
| Smith-Magenis syndrome |
|
Brachydactyly |
DECIPHER:8 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Accelerated skeletal maturation, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Fl... |
ORPHA:93307 |
| Arthrogryposis, Distal, Type 11 |
|
Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac... |
OMIM:620019 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
| Congenital Vertical Talus |
|
Pes planus, Rocker bottom foot, Equinus calcaneus, Lower extremity joint dislocation, Abnormality... |
ORPHA:178382 |
| Distal Symphalangism |
|
Joint stiffness, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Syno... |
ORPHA:3248 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
| Metaphyseal Acroscyphodysplasia |
|
Joint dislocation, Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Mic... |
ORPHA:1240 |
| Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn... |
ORPHA:93333 |
| Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome |
|
Short thumb, Osteoarthritis, Brachydactyly |
ORPHA:435804 |
| Chromosome 20Q11-Q12 Deletion Syndrome |
|
Brachydactyly, Tarsal osteovalgus, Finger clinodactyly, Camptodactyly, Adducted thumb |
OMIM:614257 |
| Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal shoulder morphology, Brachydactyly, Micrognathia, Mesomelia |
ORPHA:1277 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Micrognathi... |
ORPHA:440354 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Short toe, Short finger, Clinodactyly of the 5th finger, Short 5th metacarpal, Brachydactyly |
OMIM:604381 |
| Brachydactyly-Nystagmus-Cerebellar Ataxia |
|
Short metacarpal, Short metatarsal, Brachydactyly |
OMIM:113400 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Metaphyseal chondrodyspl... |
ORPHA:2501 |
| Arthrogryposis, Distal, Type 1B |
|
Foot joint contracture, Rocker bottom foot, Distal arthrogryposis, Talipes equinovarus, Camptodac... |
OMIM:614335 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
| Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Epiphyseal dysplasia, Generalized joint laxity, Patellar hypoplasia, Short femoral neck, Irregula... |
OMIM:609325 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
| Developmental Dysplasia Of The Hip 2 |
|
Hip osteoarthritis, Arthritis, Hip dysplasia, Coxa valga |
OMIM:615612 |
| Muenke Syndrome |
|
Tarsal synostosis, Cone-shaped epiphysis, Short foot, Short palm, Carpal synostosis, Coronal cran... |
ORPHA:53271 |
| Epiphyseal Dysplasia, Multiple, 2 |
|
Epiphyseal dysplasia, Tibial torsion, Knee osteoarthritis, Flattened epiphysis, Irregular epiphys... |
OMIM:600204 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Recurrent patellar dislocation, Micrognathia, Capitate-hamate fusion, Short toe... |
OMIM:614078 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip joint morphology, Ar... |
ORPHA:166011 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum, Acetabular spurs, Sho... |
OMIM:617405 |
| Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Short metatarsal, Type E brachydactyly, Short 4th metacarpal |
OMIM:113301 |
| Cooks Syndrome |
|
Split hand, Broad thumb, Triphalangeal thumb, Brachydactyly |
ORPHA:1487 |
| Eng-Strom Syndrome |
|
Arthritis, Camptodactyly of finger, Brachydactyly |
ORPHA:1937 |
| Brachydactyly, Type E2 |
|
Short metacarpal, Short metatarsal, Brachydactyly |
OMIM:613382 |
| Bardet-Biedl Syndrome 18 |
|
Brachydactyly |
OMIM:615995 |
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patella morphology, ... |
ORPHA:166002 |
| Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome |
|
Knee dislocation, Hip dysplasia, Hip dislocation, Hammertoe |
ORPHA:370943 |
| Hypochondroplasia |
|
Brachydactyly, Aplasia/hypoplasia of the extremities, Flared metaphysis, Short long bone, Short f... |
OMIM:146000 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th... |
ORPHA:2502 |
| Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Short greater sciatic notch, Coxa valga |
OMIM:271620 |
| Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm... |
ORPHA:1350 |
| Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Hip osteoarthritis, Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly |
OMIM:619248 |
| Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Sclerosis of foot bone... |
ORPHA:566943 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
| Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Narrow... |
OMIM:156530 |
| Non-Syndromic Bicoronal Craniosynostosis |
|
Metacarpal synostosis, Brachydactyly |
ORPHA:35099 |
| Epiphyseal Dysplasia, Baumann Type |
|
Carpal bone aplasia, Epiphyseal dysplasia, Joint laxity, Pes planus, Hypoplasia of the femoral he... |
OMIM:610797 |
| Wahab Syndrome |
|
Syndactyly, Short metacarpal, Short thumb, Ankylosis, Short foot, Short palm, Clinodactyly, Campt... |
OMIM:615170 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Reduced bone mineral density, Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal met... |
ORPHA:2370 |
| Hirschsprung Disease-Type D Brachydactyly Syndrome |
|
Short phalanx of hallux, Short distal phalanx of the thumb, Brachydactyly |
ORPHA:2150 |
| Metaphyseal Anadysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Abnormality of the lower ... |
ORPHA:1040 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Micrognathia, Fibular hypopla... |
OMIM:201170 |
| Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
| Emery-Nelson Syndrome |
|
Camptodactyly of finger, Abnormal thumb morphology, Interphalangeal thumb joint contracture, Meta... |
ORPHA:1927 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Talipes, Limited elbow extension, Short metatarsal, Flatten... |
ORPHA:1856 |
| Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Br... |
ORPHA:1278 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosi... |
ORPHA:1307 |
| Weyers Acrofacial Dysostosis |
|
Postaxial hand polydactyly, Postaxial foot polydactyly, Short palm, Clinodactyly of the 5th finge... |
OMIM:193530 |
| Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
| Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Pes planus, Short metacarpal, Micromelia, Osteoarthritis, Abnormal joint morphology, Abnormal car... |
ORPHA:93351 |
| Mesomelia-Synostoses Syndrome |
|
Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of t... |
ORPHA:2496 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
| Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Abnormality of the knee, Restricted large joint movement, Abnormality of the ankle, Bilateral cox... |
ORPHA:163665 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Joint stiffness, Metaphyseal widening, Coxa vara, Tibial bowing, Fe... |
OMIM:608940 |
| Familial Clubfoot Due To 17Q23.1Q23.2 Microduplication |
|
Hip dysplasia, Talipes equinovarus |
ORPHA:238578 |
| Microphthalmia With Limb Anomalies |
|
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... |
ORPHA:1106 |
| Brachydactyly-Syndactyly, Zhao Type |
|
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... |
ORPHA:93409 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Short metacarpal, Pes planus, Joint stiffness, Avascular necrosis of the ca... |
OMIM:132400 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Pes planus, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the ... |
OMIM:609616 |
| Epiphyseal Dysplasia, Multiple, 6 |
|
Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth... |
OMIM:614135 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... |
OMIM:258860 |
| 20Q11.2 Microdeletion Syndrome |
|
Brachydactyly, Talipes calcaneovalgus, Finger clinodactyly, Camptodactyly, Adducted thumb |
ORPHA:444051 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hip contracture, Abnormality of the knee, Broad radial metaphysis, Protrusio acetabuli, Abnormali... |
ORPHA:99642 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Triangular sha... |
ORPHA:370010 |
| Metacarpal 4-5 Fusion |
|
Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t... |
OMIM:309630 |
| Auriculoosteodysplasia |
|
Hip dysplasia, Dislocated radial head |
OMIM:109000 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Reduced bone mineral density, Delayed ossification of carpal bones, Short femoral neck, Brachydac... |
OMIM:618392 |
| Frontometaphyseal Dysplasia 1 |
|
Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Increased density of lo... |
OMIM:305620 |
| Femoral-Facial Syndrome |
|
Short femur, Micrognathia, Abnormal fibula morphology, Coxa vara, Abnormal pelvic girdle bone mor... |
ORPHA:1988 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met... |
OMIM:156500 |
| Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
| Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
| Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction |
|
Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh... |
OMIM:112450 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Craniosynostosis With Fibular Aplasia |
|
Single transverse palmar crease, Craniosynostosis, Fibular aplasia |
OMIM:218550 |
| Acromicric Dysplasia |
|
Short metacarpal, Joint stiffness, Delayed skeletal maturation, Small hand, Abnormal femur morpho... |
ORPHA:969 |
| Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... |
OMIM:147750 |
| Fibular Aplasia-Ectrodactyly Syndrome |
|
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula |
ORPHA:1118 |
| Solitary Bone Cyst |
|
Abnormal tibia morphology, Bone pain, Abnormal pubic bone morphology, Pathologic fracture, Proxim... |
ORPHA:83468 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero... |
OMIM:611497 |
| Patella Aplasia-Hypoplasia |
|
Patellar aplasia, Patellar hypoplasia |
OMIM:168860 |
| Prenatal Bowing |
|
Bowing of the long bones |
OMIM:264050 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
| Craniosynostosis 3 |
|
Hallux valgus, Single transverse palmar crease, Sagittal craniosynostosis, Left unicoronal synost... |
OMIM:615314 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Polydactyly, Abnormal hip bone morphology, Upper limb phocomelia |
ORPHA:294975 |
| Camptobrachydactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... |
ORPHA:1319 |
| Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
| Grant Syndrome |
|
Wormian bones, Micrognathia, Down-sloping shoulders, Tibial bowing |
OMIM:138930 |
| Mal De Meleda |
|
Congenital symmetrical palmoplantar keratosis, Brachydactyly |
OMIM:248300 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Pes planus, Brachydactyly, Club-shaped proximal femur, Hypoplasia of the odontoid process, Clinod... |
OMIM:184250 |
| Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Delayed skeletal maturation, ... |
OMIM:617927 |
| Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Delayed skeletal maturation, Hip osteoarthritis, Joint hyperflexibility, Hip dysplasia, Short mid... |
ORPHA:63442 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Joint stiffness, Joint hyperflexibility, Acromesomelia, Brachydactyly |
ORPHA:40 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Capitate-hamate fusion, Osteoarthrit... |
OMIM:271650 |
| Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Broad hallux, Accelerated skeletal maturation, Short thumb, Premature osteoarthritis, Hip osteoar... |
OMIM:165800 |
| Atelosteogenesis Type Ii |
|
Micromelia, Micrognathia, Tracheobronchomalacia, Short phalanx of finger, Broad metacarpals, Hypo... |
ORPHA:56304 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Brachydactyly |
OMIM:618618 |
| Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate... |
OMIM:609655 |
| Vertical Talus, Congenital |
|
Arthritis, Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus |
OMIM:192950 |
| Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness |
|
Epiphyseal dysplasia, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly |
OMIM:132450 |
| Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Delayed skeletal maturation, Hypoplasia of the... |
OMIM:617604 |
| Deafness, Congenital, With Onychodystrophy, Autosomal Dominant |
|
Toe syndactyly, Absent middle phalanx of 5th finger, Triphalangeal thumb, Bilateral triphalangeal... |
OMIM:124480 |
| Tetralogy Of Fallot |
|
Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:3303 |
| Heart-Hand Syndrome, Slovenian Type |
|
Abnormal foot morphology, Brachydactyly |
ORPHA:168796 |
| Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Radioulnar dislocation, ... |
OMIM:164900 |
| Anauxetic Dysplasia 2 |
|
Metaphyseal dysplasia, Hypoplasia of the femoral head, Coxa valga, Delayed skeletal maturation, F... |
OMIM:617396 |
| Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o... |
OMIM:606895 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Abnormal pelvic girdle bone morph... |
ORPHA:2928 |
| Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Carpal synostosis, Epiphyseal dysplasia, Scapular winging, Short metacarpal, Bowed humerus, Tarsa... |
OMIM:272460 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Talipes, M... |
OMIM:227270 |
| Summitt Syndrome |
|
Finger syndactyly, Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis, Genu valgu... |
ORPHA:3210 |
| Osteochondritis Dissecans |
|
Abnormality of the knee, Decreased hip abduction, Quadriceps muscle atrophy, Joint stiffness, Abn... |
ORPHA:2764 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
| Brachydactyly, Type E1 |
|
Short metacarpal, Short metatarsal, Short clavicles, Type E brachydactyly, Brachydactyly |
OMIM:113300 |
| Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short... |
OMIM:271530 |
| Camptobrachydactyly |
|
Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly |
OMIM:114150 |
| Pseudoachondroplasia |
|
Genu recurvatum, Limited hip extension, Delayed epiphyseal ossification, Metaphyseal widening, Os... |
OMIM:177170 |
| Split-Hand/Foot Malformation 4 |
|
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Hip dysplasia, Short distal phalanx of finger, Brachydactyly, Hypoplastic iliac wing |
ORPHA:1858 |
| Jeune Syndrome |
|
Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Cone-shaped e... |
ORPHA:474 |
| Familial Anetoderma |
|
Abnormal tibia morphology, Generalized joint laxity |
ORPHA:228277 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Abnormal hand morphology, Short digit, Short 5th metacarpal |
ORPHA:228190 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... |
OMIM:151200 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormal morphology of ulna, Delayed skeletal maturation, Abnormal fibula morphology, Aplasia/Hyp... |
ORPHA:1837 |
| Aase-Smith Syndrome |
|
Multiple joint contractures, Camptodactyly of finger, Joint stiffness, Aplasia/Hypoplasia of the ... |
ORPHA:916 |
| Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Vertebral fusion, Tarsal synostosis, Multiple pterygia, Craniosynostosis, Elbow ... |
OMIM:178110 |
| Sillence Syndrome |
|
Abnormal distal phalanx morphology of finger, Large tarsal bones, Metatarsus adductus, Chess-pawn... |
ORPHA:3168 |
| Otopalatodigital Syndrome Type 2 |
|
Bowing of the long bones, Increased bone mineral density, Tarsal synostosis, Short hallux, Campto... |
ORPHA:90652 |
| Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... |
ORPHA:1860 |
| Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... |
ORPHA:90650 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin... |
OMIM:268305 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Brachydactyly, Lower limb undergrowth, Bowing of the legs |
OMIM:612847 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Ulnar bowing, Osteoarthritis, Flared metaphysis, Delayed skeletal matu... |
OMIM:602111 |
| Achondroplasia |
|
Brachydactyly, Radial bowing, Rhizomelia, Short femur, Limited hip extension, Bowing of the legs,... |
OMIM:100800 |
| Paget Disease Of Bone 2, Early-Onset |
|
Bowing of the long bones, Short femur, Fractures of the long bones, Bone pain, Osteolysis, Femora... |
OMIM:602080 |
| Atelosteogenesis Type Iii |
|
Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Short tubular ... |
ORPHA:56305 |
| Leri Pleonosteosis |
|
Genu recurvatum, Camptodactyly of finger, Joint stiffness, Elbow dislocation, Abnormal finger mor... |
ORPHA:2900 |
| Second Metatarsal-Metacarpal Syndrome |
|
Synostosis of carpals/tarsals, Abnormal metacarpal morphology |
OMIM:269630 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Aplasia/Hypoplasia of the... |
OMIM:113000 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Osteopenia, Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Delayed skelet... |
OMIM:190351 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
| Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... |
OMIM:108720 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met... |
ORPHA:93314 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Short femur, Foot oligodactyly, Amelia |
OMIM:601357 |
| Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Sandal gap, Single transverse palmar crease, Capitate-hamate fusion, 2-3 toe cuta... |
OMIM:206920 |
| Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobility, Lateral hum... |
ORPHA:2741 |
| Polydactyly, Postaxial, Type A7 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous... |
OMIM:617642 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Coxa vara, Genu valgum, Deviation of finger, Deforme... |
ORPHA:2831 |
| Keipert Syndrome |
|
Joint laxity, Broad hallux, Broad distal phalanx of finger, Camptodactyly, Clinodactyly, Broad th... |
OMIM:301026 |
| Coxoauricular Syndrome |
|
Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe... |
ORPHA:1508 |
| Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome |
|
Short distal phalanx of finger, Brachytelomesophalangy |
ORPHA:1547 |
| Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short metatarsal, Hypoplasia of the ulna, Short metacarpa... |
OMIM:271700 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Mesomelia, Abnormal epiphys... |
ORPHA:2631 |
| Terminal Osseous Dysplasia |
|
Syndactyly, Multiple joint contractures, Camptodactyly of finger, Abnormal hand bone ossification... |
OMIM:300244 |
| Thoracomelic Dysplasia |
|
Elbow dislocation, Abnormal fibula morphology, Genu valgum, Joint hyperflexibility, Abnormal pelv... |
ORPHA:1803 |
| Desbuquois Dysplasia 1 |
|
Joint dislocation, Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis,... |
OMIM:251450 |
| Acrocephalopolydactyly |
|
Limb undergrowth, Short long bone, Genu recurvatum, Brachydactyly |
ORPHA:221054 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Fused cervical vertebrae, Short middle phalanx of finger, Brachydactyly |
ORPHA:1436 |
| Brachydactyly Type A1 |
|
Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl... |
ORPHA:93388 |
| Weismann-Netter Syndrome |
|
Fibular bowing, Squared iliac bones, Anterior tibial bowing, Lateral femoral bowing |
OMIM:112350 |
| Charlie M Syndrome |
|
Finger syndactyly, Micrognathia, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology,... |
ORPHA:1406 |
| Acrodysplasia Scoliosis |
|
Brachydactyly |
ORPHA:2956 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Joint laxity, Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, ... |
OMIM:250420 |
| Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures |
|
Brachydactyly |
OMIM:618879 |
| Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... |
ORPHA:1426 |
| Steel Syndrome |
|
Carpal synostosis, Pes planus, Hip dislocation, Coxa vara, Clinodactyly of the 5th finger, Pes ca... |
OMIM:615155 |
| Pseudopseudohypoparathyroidism |
|
Short distal phalanx of the 3rd finger, Short metatarsal, Short 5th finger, Short distal phalanx ... |
ORPHA:79445 |
| Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Brachydactyly, Rhizomelia, Micrognathia, Abnormality of the humerus, Pre... |
ORPHA:3098 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Clinodactyly, Brachydactyly |
OMIM:610023 |
| Progressive Osseous Heteroplasia |
|
Osteoarthritis, Limitation of joint mobility, Bone pain, Ectopic ossification in muscle tissue, B... |
ORPHA:2762 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615982 |
| Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Decreased c... |
OMIM:620076 |
| Atelosteogenesis Type I |
|
Joint dislocation, Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the fem... |
ORPHA:1190 |
| Phenobarbital Embryopathy |
|
Aplasia/Hypoplasia of fingers, Brachydactyly |
ORPHA:1919 |
| Orofaciodigital Syndrome Ix |
|
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly |
OMIM:258865 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, Abnormal foot m... |
ORPHA:94068 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif... |
OMIM:600785 |
| Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Brachydactyly, Single transverse palmar crease, Short first metatarsal, Prominent interdigital fo... |
OMIM:601957 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S... |
OMIM:608728 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu... |
OMIM:119800 |
| Microcephaly-Micromelia Syndrome |
|
Micromelia, Absent thumb, Absent radius, Craniosynostosis, Micrognathia, Humeroradial synostosis,... |
OMIM:251230 |
| Shox-Related Short Stature |
|
Micrognathia, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Lo... |
ORPHA:314795 |
| Odontochondrodysplasia 1 |
|
Short metacarpal, Brachydactyly, Genu recurvatum, Micromelia, Metaphyseal widening, Osteoporosis,... |
OMIM:184260 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Brachydactyly |
OMIM:613819 |
| Multiple Epiphyseal Dysplasia Type 5 |
|
Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Abnormal upper li... |
ORPHA:93311 |
| Muenke Syndrome |
|
Broad hallux, Capitate-hamate fusion, Cone-shaped epiphyses of the phalanges of the hand, Coronal... |
OMIM:602849 |
| Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Postaxial hand polydactyly, Genu... |
ORPHA:65759 |
| Dyggve-Melchior-Clausen Disease |
|
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow... |
OMIM:223800 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Femoral bowing, Abnormality of the wrist, Elbow ankylosis, Short metacarpal,... |
ORPHA:95699 |
| Acrorenal Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Aplasia/Hypopla... |
ORPHA:971 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Brachydactyly, Abnormal thumb morphology, Abnormal metacarpal morphology, Abnormal finger morphol... |
ORPHA:2511 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Irregular, rachitic-like metaphyses, Abnormal foot morphology, Delayed skeletal ... |
OMIM:184252 |
| Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Single transverse palmar crease, Micrognathia, Tibial bowing, Femoral bowing, Kn... |
OMIM:601559 |
| Temtamy Syndrome |
|
Pes planus, Micrognathia, Short toe, Genu varum, Joint hyperflexibility, Clinodactyly of the 5th ... |
ORPHA:1777 |
| Arthrogryposis, Distal, Type 1A |
|
Hip contracture, Stiff shoulders, Congenital hip dislocation, Overlapping toe, Single transverse ... |
OMIM:108120 |
| Smith-Mccort Dysplasia 2 |
|
Pes planus, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Broad metatars... |
OMIM:615222 |
| Trichothiodystrophy 9, Nonphotosensitive |
|
Joint laxity, Brachydactyly |
OMIM:619692 |
| Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Brachydactyly |
OMIM:617169 |
| Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ... |
OMIM:187601 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Joint laxity, Ra... |
OMIM:300106 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Short femur, Fractured radius, Wormian bones, Decreased fibular diameter, Multiple pr... |
OMIM:616897 |
| Boomerang Dysplasia |
|
Absent radius, Hypoplastic iliac body, Fibular aplasia |
OMIM:112310 |
| Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Broad femoral neck, Thenar muscle atrophy, Flat capital femoral epiphysis, Tapered fi... |
ORPHA:157965 |
| Lowry-Wood Syndrome |
|
Epiphyseal dysplasia, Joint stiffness, Elbow dislocation, Delayed skeletal maturation, Coxa vara,... |
ORPHA:1824 |
| Lowry-Wood Syndrome |
|
Squared iliac bones, Limited elbow extension, Hip dislocation, Elbow flexion contracture, Multipl... |
OMIM:226960 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... |
OMIM:617102 |
| Slc35A2-Cdg |
|
Osteopenia, Limb joint contracture, Camptodactyly of finger, Abnormality of the hand, Coxa valga,... |
ORPHA:356961 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Metaphyseal widening, Squared iliac bones, Short long bone, Short ribs, Limb under... |
OMIM:618961 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Short 5th metacarpal, Abnormality of the hand, Brachydactyly |
ORPHA:1264 |
| Keratoconus Posticus Circumscriptus |
|
Clinodactyly of the 5th finger, Limited elbow extension and supination, Abnormal vertebral segmen... |
OMIM:244600 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormality of the knee, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral de... |
ORPHA:970 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
| Chromosome 15Q26-Qter Deletion Syndrome |
|
Micrognathia, Short middle phalanx of finger, Talipes equinovarus, Brachydactyly |
OMIM:612626 |
| Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph... |
OMIM:311300 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing... |
OMIM:250220 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
| Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... |
ORPHA:3312 |
| Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Micrognathia, Osteoporosis, Short f... |
ORPHA:3409 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S... |
OMIM:171480 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Osteoarthritis, Abnormal pelvis bone morphology, Palmoplantar keratoderma |
ORPHA:2206 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Bilateral single transverse palmar creases, Micrognathia, Small hand, Short foot, Clinodactyly of... |
ORPHA:444002 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi... |
ORPHA:1788 |
| Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite... |
OMIM:258315 |
| Satoyoshi Syndrome |
|
Pes planus, Short metacarpal, Short metatarsal, Osteolytic defects of the phalanges of the hand, ... |
OMIM:600705 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... |
ORPHA:457395 |
| Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Craniosynostosis, Osteoporosis, Joint hyperflexibil... |
ORPHA:1515 |
| Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... |
OMIM:277170 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Bone pain, Ricket... |
OMIM:307800 |
| Opsismodysplasia |
|
Abnormally ossified vertebrae, Tapered finger, Joint stiffness, Delayed skeletal maturation, Squa... |
ORPHA:2746 |
| Intellectual Developmental Disorder, Autosomal Dominant 59 |
|
Short foot, Brachydactyly, Short palm |
OMIM:618522 |
| Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Enlarged joi... |
ORPHA:1427 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda... |
OMIM:609945 |
| Anauxetic Dysplasia 3 |
|
Short metacarpal, Joint hypermobility, Hip subluxation, Squared iliac bones, Femoral bowing, Genu... |
OMIM:618853 |
| Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Short toe, Patent ductus arteriosus, Absent middle phalanx of the 3rd ... |
OMIM:615297 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys... |
ORPHA:93316 |
| Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Tarsal synostosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Abn... |
ORPHA:2473 |
| Anauxetic Dysplasia 1 |
|
Joint laxity, Hip contracture, Rhizomelia, Hypoplastic ilia, Short toe, Flared metaphysis, Elbow ... |
OMIM:607095 |
| Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Pes planus, Hyperextensibility at elbow, Rec... |
OMIM:610967 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, Clavicular scl... |
OMIM:144750 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Osteolysis involving bones of the upper limbs, Flexion contracture, Osteolysis involv... |
ORPHA:88630 |
| Chst3-Related Skeletal Dysplasia |
|
Short metacarpal, Enlarged joints, Rhizomelia, Abnormality of the elbow, Flexion contracture, Gen... |
ORPHA:263463 |
| Pseudopseudohypoparathyroidism |
|
Short metacarpal, Short metatarsal, Osteoporosis, Brachydactyly |
OMIM:612463 |
| Pseudohypoparathyroidism, Type Ib |
|
Short metacarpal, Brachydactyly |
OMIM:603233 |
| Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... |
ORPHA:1263 |
| Cardiospondylocarpofacial Syndrome |
|
Brachydactyly, Synostosis of carpal bones, Short palm |
ORPHA:3238 |
| Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Short humerus, Swan neck-like deformities of the fingers, Coxa vara, Contractures of the large jo... |
OMIM:616716 |
| Auriculoosteodysplasia |
|
Elbow dislocation, Hip dysplasia, Aplasia/Hypoplasia of the radius, Abnormal metacarpal morpholog... |
ORPHA:114 |
| Moebius Syndrome |
|
Syndactyly, Brachydactyly, Pes planus, Micrognathia, Split hand, Abnormal pelvic girdle bone morp... |
OMIM:157900 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Short long bone, Postaxial polydactyly, Brachydactyly |
OMIM:615633 |
| Potocki-Shaffer Syndrome |
|
Wormian bones, 2-5 finger cutaneous syndactyly, Single transverse palmar crease, Brachydactyly |
OMIM:601224 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Small hand, Broad finger, Clinodactyly, Short phalanx of finger, Brachydactyly |
OMIM:614684 |
| Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones, Micromelia |
OMIM:211990 |
| Achondroplasia |
|
Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Abnorm... |
ORPHA:15 |
| Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal... |
OMIM:140000 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Enlarged epiphyses, Wrist swelling, Coxa vara, Abnormal shoulder morphology, Abnormal hip joint m... |
ORPHA:1159 |
| Atelosteogenesis, Type Iii |
|
Radial bowing, Rhizomelia, Sandal gap, Micrognathia, Elbow dislocation, Tombstone-shaped proximal... |
OMIM:108721 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Joint laxity, Syndactyly, Craniosynostosis, Genu varum, Hip dislocation, Deep palmar crease, Clin... |
OMIM:619451 |
| Abruzzo-Erickson Syndrome |
|
Toe syndactyly, Short toe, Ulnar deviation of finger, Radioulnar synostosis, Brachydactyly |
ORPHA:921 |
| Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Metaphyseal widening, Flared metaphysis, Abnormal pelvic girdle bone morphology, Sclerosis of sku... |
OMIM:123000 |
| Atelosteogenesis, Type Ii |
|
Sandal gap, Micromelia, Micrognathia, Bifid humerus, Flat acetabular roof, Short greater sciatic ... |
OMIM:256050 |
| Isolated Osteopoikilosis |
|
Syndactyly, Increased bone mineral density, Abnormal pelvis bone morphology, Abnormally ossified ... |
ORPHA:166119 |
| Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
| Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Short ribs, Hypoplasia of deltoid ... |
OMIM:173800 |
| Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Microgna... |
OMIM:613848 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Talipes equinovarus... |
OMIM:607143 |
| Cornelia De Lange Syndrome 2 |
|
Proximal placement of thumb, Limited elbow movement, Micrognathia, Small hand, Short foot, Clinod... |
OMIM:300590 |
| Pfeiffer Syndrome |
|
Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of the hand, Hip dysplasi... |
ORPHA:710 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... |
OMIM:210720 |
| Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Hyporeflexia of lower limbs, Areflexia of lower limbs, Calcaneovalgus deformity, Arthrogryposis m... |
OMIM:162370 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Wormian bones, Hypoplasia of the odontoid process, Metaphyseal widening, Flexion contracture, Del... |
OMIM:300232 |
| Caffey Disease |
|
Tibial bowing, Periosteal thickening of long tubular bones, Joint hypermobility, Bowing of the legs |
OMIM:114000 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ... |
OMIM:616300 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Short foot, Brachydactyly |
OMIM:266265 |
| Weill-Marchesani Syndrome |
|
Short thumb, Limitation of joint mobility, Brachydactyly |
ORPHA:3449 |
| Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Micrognathia, Short thumb... |
OMIM:600325 |
| Cranio-Osteoarthropathy |
|
Abnormality of the knee, Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Clubbing of ... |
ORPHA:1525 |
| Bardet-Biedl Syndrome 3 |
|
Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
| Arthrogryposis, Distal, Type 2B1 |
|
Ulnar deviation of the wrist, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Metatars... |
OMIM:601680 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Delayed skeletal maturation, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:2643 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Joint laxity, Rhizomelia, Metaphyseal widening, Irregular epiphyses, Short finger, Mesomelia, Bro... |
OMIM:612813 |
| Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome |
|
Arachnodactyly, Micrognathia, Cone-shaped epiphysis, Joint hyperflexibility, Palmoplantar keratod... |
ORPHA:2824 |
| Weill-Marchesani Syndrome 3 |
|
Joint stiffness, Brachydactyly |
OMIM:614819 |
| Nicolaides-Baraitser Syndrome |
|
Short palm, Joint dislocation, Sandal gap, Accelerated skeletal maturation, Delayed skeletal matu... |
ORPHA:3051 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Brachydactyly, Single transverse palmar crease, Adducted thumb |
OMIM:620062 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Pes planus, Rhizomelia, Delayed skeletal maturation, Femoral bowing, Wormian bones, Short 4th met... |
OMIM:619638 |
| Marinesco-Sjögren Syndrome |
|
Short palm, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnormal finger morp... |
ORPHA:559 |
| Spastic Paraplegia 20, Autosomal Recessive |
|
Ulnar deviation of the hand, Flexion contracture, Hyperextensible hand joints, Short foot, Ankle ... |
OMIM:275900 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Hypoplastic ilia, Hypoplastic i... |
OMIM:151210 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... |
ORPHA:85167 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short tibia, Short femur, Talipes equinovarus |
OMIM:620306 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Joint dislocation, Joint laxity, Scapular winging, Pes planus, Microretrognathia, Single transver... |
OMIM:618870 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Clinodactyly of the 5th finger, Joint hyperflexibility, Down-sloping shoulders, Brachydactyly |
ORPHA:1390 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Rhizomelia, Short iliac bones, Metaphyseal widening, Short foot, Acetabular spurs, Pes valgus, Br... |
OMIM:614376 |
| Waardenburg Syndrome, Type 3 |
|
Scapular winging, Camptodactyly of finger, Cutaneous finger syndactyly, Carpal synostosis, Clinod... |
OMIM:148820 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu... |
OMIM:615503 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Pes planus, Tapered finger, Multiple joint dislocation, Hip... |
OMIM:618395 |
| Alopecia-Intellectual Disability Syndrome |
|
Delayed skeletal maturation, Split hand, Flexion contracture, Brachydactyly |
ORPHA:2850 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Abnormality of the elbo... |
ORPHA:3121 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ... |
OMIM:269250 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
| Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... |
OMIM:615986 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
11 pairs of ribs, Broad hallux, Clinodactyly of the 2nd toe, Coxa valga, Micrognathia, Short dist... |
OMIM:620073 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short metacarpal, Single interphalangeal crease of fifth finger, Hypoplastic iliac wing, Delayed ... |
OMIM:611717 |
| Orofaciodigital Syndrome Type 1 |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Preaxial hand polydactyly, Short toe, Postaxi... |
ORPHA:2750 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Slender long bone, Abnormal pelvic girdle bone morphology |
ORPHA:1506 |
| Craniofrontonasal Dysplasia |
|
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should... |
ORPHA:1520 |
| Roifman Syndrome |
|
Hip contracture, Brachydactyly, Epiphyseal dysplasia, Delayed proximal femoral epiphyseal ossific... |
ORPHA:353298 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Short metatarsal, Advanced ossification of carpal bones, Cone-shaped epiphysis,... |
OMIM:614613 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul... |
OMIM:184253 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Micrognathia, ... |
OMIM:617866 |
| Roifman Syndrome |
|
Hip contracture, Short metacarpal, Single transverse palmar crease, Short toe, Irregular femoral ... |
OMIM:616651 |
| Non-Distal Deletion 10Q |
|
Clinodactyly of the 5th finger, Overlapping fingers, Bilateral single transverse palmar creases, ... |
ORPHA:1581 |
| Laurence-Moon Syndrome |
|
Finger syndactyly, Brachydactyly, Hand polydactyly, Bilateral single transverse palmar creases |
ORPHA:2377 |
| Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Delayed skeletal maturation, Osteoporosis, Brachydactyly |
OMIM:234250 |
| Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Increased susceptibility to fractures, Recurrent fractures, Femoral bowing |
OMIM:615066 |
| Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... |
OMIM:142900 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
| Laron Syndrome |
|
Micrognathia, Delayed skeletal maturation, Short toe, Abnormality of the elbow, Osteoarthritis, B... |
ORPHA:633 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus,... |
ORPHA:163966 |
| Rudiger Syndrome |
|
Short digit, High axial triradius, Flexion contracture, Single transverse palmar crease |
OMIM:268650 |
| Grant Syndrome |
|
Joint dislocation, Bowing of the long bones, Micrognathia, Decreased skull ossification, Joint hy... |
ORPHA:2097 |
| Acrodysostosis |
|
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ... |
ORPHA:950 |
| Mietens Syndrome |
|
Hypoplasia of the ulna, Talipes, Coxa valga, Elbow dislocation, Metatarsus adductus, Avascular ne... |
ORPHA:2557 |
| Nail-Patella Syndrome |
|
Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hypoplasia, K... |
ORPHA:2614 |
| Schaaf-Yang Syndrome |
|
Rocker bottom foot, Tapered finger, Flexion contracture, Small hand, Narrow palm, Short foot, Cam... |
OMIM:615547 |
| Trichorhinophalangeal Syndrome Type 2 |
|
Joint dislocation, Bilateral single transverse palmar creases, Talipes, Avascular necrosis of the... |
ORPHA:502 |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Brachydactyly, Joint stiffness, Genu valgum, Abnormal metacarpal morphology, Short distal phalanx... |
ORPHA:1295 |
| Satoyoshi Syndrome |
|
Abnormality of the knee, Tapered finger, Abnormality of the humerus, Abnormal joint morphology, A... |
ORPHA:3130 |
| Al-Raqad Syndrome |
|
Joint laxity, Sandal gap, Brachydactyly |
OMIM:616459 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Craniosynostosis, Micromelia, Micrognathia, Split hand, Brachydactyly |
ORPHA:2145 |
| Czech Dysplasia |
|
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac... |
OMIM:609162 |
| Thanatophoric Dysplasia |
|
Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Joint hyperflexibility, Hip dy... |
ORPHA:2655 |
| Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Brachydactyly, Broad long bones, Abnormal metatarsal morphology, Delayed skeletal maturation, Rhi... |
ORPHA:163654 |
| Cardioacrofacial Dysplasia 2 |
|
Recurrent patellar dislocation, Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot... |
OMIM:619143 |
| Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Wide cranial sutures, Short femur, Metaphyseal spurs, Recurrent fractures, Femoral bo... |
OMIM:618188 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Abnormality... |
ORPHA:3035 |
| Bent Bone Dysplasia Syndrome 1 |
|
Bent long bone, Micrognathia, Hypoplastic pubic bone, Decreased calvarial ossification, Short cla... |
OMIM:614592 |
| Bruck Syndrome 2 |
|
Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Femoral bow... |
OMIM:609220 |
| Adams-Oliver Syndrome 6 |
|
Syndactyly, Foot oligodactyly, Brachydactyly |
OMIM:616589 |
| Fryns-Smeets-Thiry Syndrome |
|
Arachnodactyly, Micrognathia, Patellar aplasia, Hip dislocation, Joint hyperflexibility |
ORPHA:2058 |
| Frontonasal Dysplasia 1 |
|
Postaxial hand polydactyly, Hypoplastic frontal sinuses, Pectoral muscle hypoplasia/aplasia, Radi... |
OMIM:136760 |
| Menkes Disease |
|
Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurrent fractures, Micrognathia, Os... |
ORPHA:565 |
| Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal... |
ORPHA:2438 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Tarsal synostosis, Aplastic clavicle, Micrognathia, Delayed skeletal maturation, Coronal craniosy... |
ORPHA:85199 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Iliac crest serration, Accelerated skeletal maturation, Metaphyseal chondrodysp... |
ORPHA:93317 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Short ... |
OMIM:617895 |
| Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
| Pde4D Haploinsufficiency Syndrome |
|
Joint laxity, Pes planus, Short metacarpal, Broad hallux, Accelerated skeletal maturation, Microg... |
ORPHA:439822 |
| Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... |
ORPHA:85166 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Delayed ep... |
OMIM:600081 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Delayed skeletal maturation, Short toe, Broad foot, Brachydactyly |
ORPHA:3085 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Micrognathia, Slender long bone, Decreased calvarial ossification, Arthrogrypos... |
OMIM:618265 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Wormian bones, Micrognathia, Camptodactyly of finger, Brachydactyly |
ORPHA:2863 |
| Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, Clinodactyly of the 5th finger, ... |
OMIM:201000 |
| Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
| Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Finger dactylitis, Abnormal metacarpophalangeal joint morphology, Thickened Achilles tendon, Abno... |
ORPHA:85438 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Brachydactyly |
OMIM:610498 |
| Larsen Syndrome |
|
Finger syndactyly, Large joint dislocations, Craniosynostosis, Accessory carpal bones, Joint hype... |
ORPHA:503 |
| Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... |
ORPHA:2751 |
| Rhyns Syndrome |
|
Osteopenia, Radial bowing, Delayed skeletal maturation, Osteoporosis, Short long bone, Short femo... |
OMIM:602152 |
| Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ... |
ORPHA:85165 |
| Catel-Manzke Syndrome |
|
Joint dislocation, Short humerus, Short metacarpal, Short femur, Joint laxity, Single transverse ... |
OMIM:616145 |
| Frank-Ter Haar Syndrome |
|
Genu recurvatum, Camptodactyly of finger, Joint stiffness, Osteolysis, Abnormal metacarpal morpho... |
ORPHA:137834 |
| Codas Syndrome |
|
Short metacarpal, Congenital hip dislocation, Delayed skeletal maturation, Joint hyperflexibility... |
ORPHA:1458 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste... |
OMIM:607634 |
| Kniest Dysplasia |
|
Hip contracture, Enlarged joints, Rhizomelia, Dumbbell-shaped long bone, Delayed epiphyseal ossif... |
OMIM:156550 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl... |
OMIM:617925 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Joint laxity, Limited elbow extension and supination, Short thumb, Dislocated radial head, Brachy... |
ORPHA:401935 |
| Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Cone-shaped epiphysis, Short foot, ... |
OMIM:157800 |
| Pelvis-Shoulder Dysplasia |
|
Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Camptodactyly of... |
ORPHA:2839 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Joint laxity, Rhizomelia, Mesomelia, Broad thumb, Brachydactyly |
ORPHA:171866 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Craniosynostosis, Coxa valga, Delayed skeletal maturation, Hypoplastic vertebral bodies, Clinodac... |
ORPHA:2163 |
| Erythrokeratodermia Variabilis |
|
Brachydactyly, Patchy palmoplantar hyperkeratosis, Tapered finger |
ORPHA:317 |
| Tukel Syndrome |
|
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly |
OMIM:609428 |
| Woolly Hair Nevus |
|
Brachydactyly |
ORPHA:79414 |
| Oculomaxillofacial Dysostosis |
|
Brachydactyly, Camptodactyly of finger, Micrognathia, Abnormality of the humerus, Adducted thumb |
ORPHA:1794 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... |
OMIM:263520 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Hallux valgus, Broad hallux, Tapered finger, Micrognathia, Long fingers, Short toe, 2-3 toe synda... |
OMIM:618659 |
| Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Cone-shaped epiphyses of the phalanges of the hand, Short 4t... |
ORPHA:420794 |
| Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... |
OMIM:615994 |
| Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ... |
ORPHA:2347 |
| Cousin Syndrome |
|
Hypoplastic scapulae, Rhizomelia, Hypoplastic ischia, Micrognathia, 4-5 toe syndactyly, Humerorad... |
OMIM:260660 |
| Acromelic Frontonasal Dysostosis |
|
Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta... |
OMIM:603671 |
| Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Narrow pelvis bone, Short ribs, Hypoplastic pelvis, Hypoplastic iliac wing |
OMIM:187760 |
| Atrial Septal Defect 2 |
|
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... |
OMIM:607941 |
| Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Abnormal left ventricu... |
ORPHA:2041 |
| Mohr Syndrome |
|
Syndactyly, Wormian bones, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, F... |
OMIM:252100 |
| Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Wormian bones, Recurrent fractures, Multiple prenatal frac... |
OMIM:166210 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Hypoplastic ischia, Bowing of the legs, Micrognathia, Abnormality of the lower limb, ... |
ORPHA:313855 |
| Brachyolmia Type 3 |
|
Clinodactyly, Proximal femoral metaphyseal irregularity, Short femoral neck, Radial deviation of ... |
OMIM:113500 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Hallux valgus, Scapular winging, Toe syndactyly, Brachydactyly, Camptodactyly of finger, Short to... |
ORPHA:1327 |
| Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Joint stiffness, Abnormal finger morphology, Cutaneous finger syndactyly... |
ORPHA:896 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ... |
OMIM:614091 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Single transverse palmar crease, Coxa valga, Narrow ... |
OMIM:617425 |
| Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Osteomyelitis, Recurrent fractures, Rocker bottom foot, Micrognathia, Talipes equinovalgus, Tibia... |
ORPHA:453510 |
| Lujan-Fryns Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Micrognathia, Joint hyperflexibility, Brachydactyly |
ORPHA:776 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Micromelia, Delayed epiphyseal ossification, Flared metaphysis, Vertebral hypoplasi... |
OMIM:602557 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of the hand, Genu valgum, Shor... |
OMIM:615630 |
| Penoscrotal Transposition |
|
Clinodactyly of the 5th finger, Patellar aplasia, Micrognathia, Bilateral single transverse palma... |
ORPHA:2842 |
| Hall-Riggs Syndrome |
|
Joint stiffness, Delayed skeletal maturation, Abnormal epiphysis morphology, Limb undergrowth, Ab... |
ORPHA:2107 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Single transverse palmar crease, 2-3 toe syndactyly, Cutaneous syndactyly, Tal... |
OMIM:236500 |
| Kury-Isidor Syndrome |
|
Finger syndactyly, Rocker bottom foot, Proximal placement of thumb, Hip dysplasia, Talipes equino... |
OMIM:619762 |
| Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Pes planus, Sandal gap, Tapered finger, Micrognathia, Preaxial hand polydactyly, S... |
OMIM:620072 |
| Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Aplasia of the ulna, Micrognathia, ... |
ORPHA:2879 |
| Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Coxa vara, Rhizomelia, Iliac crest serration, Hypoplasia of the odontoi... |
ORPHA:239 |
| Ivic Syndrome |
|
Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad... |
ORPHA:2307 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Joint hypermobility, Genu valgum |
OMIM:617798 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexi... |
OMIM:210710 |
| Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract... |
ORPHA:3103 |
| Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the wrist, Ost... |
ORPHA:198 |
| Meier-Gorlin Syndrome 5 |
|
Prominent metopic ridge, Micrognathia, Elbow dislocation, Irregular femoral epiphysis, Patellar a... |
OMIM:613805 |
| Osteoglosphonic Dysplasia |
|
Rhizomelia, Craniosynostosis, Micrognathia, Delayed skeletal maturation, Abnormal bone ossificati... |
ORPHA:2645 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Hypoplastic ilia, Flare... |
OMIM:615349 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Joint stiffness, Abnormality of the elbow, Hip dislocation, Short middle phala... |
ORPHA:1005 |
| Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia... |
OMIM:228520 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e... |
ORPHA:93284 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology, Dextrotransposition of the great ar... |
ORPHA:860 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-shaped epiphyses of... |
OMIM:208500 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Joint laxity, Pes planus, Sandal gap, Small hand, Short foot, Pes cavus, Brachydactyly |
OMIM:300354 |
| Pseudohypoparathyroidism, Type Ia |
|
Short metacarpal, Short toe, Short metatarsal, Osteoporosis, Subcutaneous ossification, Short fin... |
OMIM:103580 |
| Jansen-De Vries Syndrome |
|
Short foot, Small hand, Brachydactyly |
OMIM:617450 |
| Vitamin K Antagonist Embryofetopathy |
|
Epiphyseal stippling, Brachydactyly, Short distal phalanx of finger |
ORPHA:1914 |
| Omodysplasia 2 |
|
Short humerus, Micrognathia, Fibular hypoplasia, Limited elbow flexion/extension, Hypoplastic dis... |
OMIM:164745 |
| Acrofrontofacionasal Dysostosis |
|
Camptodactyly of finger, Micromelia, Abnormal epiphysis morphology, Short distal phalanx of finge... |
ORPHA:1784 |
| Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t... |
ORPHA:3258 |
| Temtamy Syndrome |
|
Pes planus, Micrognathia, Hip dislocation, Short 2nd toe, Talipes equinovarus, Brachydactyly |
OMIM:218340 |
| Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Micrognathi... |
OMIM:618150 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Osteopenia, Short metacarpal, Brachydactyly, Rhizomelia, Hypoplastic sacrum, Short metatarsal, Sm... |
OMIM:614813 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Single transverse palmar crease, Micrognathia, Camptodactyly, Clinodactyly, Brachydactyly |
OMIM:613604 |
| Chitayat Syndrome |
|
Hallux valgus, Tracheomalacia, Brachydactyly |
OMIM:617180 |
| Nail-Patella Syndrome |
|
Pes planus, Biceps aplasia, Glenoid fossa hypoplasia, Triceps aplasia, Patellar aplasia, Hypoplas... |
OMIM:161200 |
| Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Wormian bones, Down-sloping shoulders, Recurrent fractures, Tapered finger,... |
ORPHA:1452 |
| Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Abnormal femoral epiphysis morphology, Brachydactyly |
ORPHA:3218 |
| Craniosynostosis 2 |
|
Bicoronal synostosis, Craniosynostosis, Metopic synostosis, Triphalangeal thumb, Wormian bones, U... |
OMIM:604757 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractures, Bowing of the le... |
OMIM:300554 |
| Grange Syndrome |
|
Aortic regurgitation, Syndactyly, Ventricular septal defect, Patent ductus arteriosus, Arterial s... |
ORPHA:79094 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Ulnar deviation of the wrist, Elbow contracture, 2-3 toe syndactyly, Knee flexion con... |
OMIM:618162 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Joint stiffness, Micrognathia, Abnormal hip bone morp... |
ORPHA:1323 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Camptodactyly of finger, Wrist swelling, Polyarticular arthropathy, Knee osteoarthritis, Osteopor... |
ORPHA:2848 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Single transverse palmar crease, Micrognathia, Flexion contracture, Tibial bowing, Hypoplastic il... |
ORPHA:96334 |
| Genitopatellar Syndrome |
|
Hip contracture, Micrognathia, Hypoplastic ilia, Patellar aplasia, Knee flexion contracture, Radi... |
ORPHA:85201 |
| Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... |
ORPHA:1330 |
| Alg6-Cdg |
|
Shortening of all distal phalanges of the fingers, Brachydactyly |
ORPHA:79320 |
| Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Clinodactyly of the 5th finger, Hip dysplasia, Micrognathia, Brachydactyly |
OMIM:618381 |
| Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e... |
OMIM:618022 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... |
OMIM:274000 |
| 20P13 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly |
ORPHA:313781 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of the hand, Abn... |
OMIM:271665 |
| Aarskog-Scott Syndrome |
|
Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Pes planus, Single transverse ... |
OMIM:305400 |
| Feingold Syndrome |
|
Hallux valgus, Toe syndactyly, Micrognathia, Deviation of the 2nd finger, Clinodactyly of the 5th... |
ORPHA:1305 |
| Pycnodysostosis |
|
Persistent open anterior fontanelle, Increased bone mineral density, Aplastic clavicle, Micrognat... |
OMIM:265800 |
| Thanatophoric Dysplasia Type 2 |
|
Micromelia, Limitation of joint mobility, Joint hyperflexibility, Abnormal metaphysis morphology,... |
ORPHA:93274 |
| Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Micrognath... |
ORPHA:783 |
| Chromosome 17Q12 Duplication Syndrome |
|
Micrognathia, Broad thumb, Brachydactyly |
OMIM:614526 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Flexion contracture, Tibi... |
OMIM:143095 |
| Chromosome 2Q37 Deletion Syndrome |
|
Short metacarpal, Short fourth metatarsal, Short toe, Short phalanx of finger, Type E brachydactyly |
OMIM:600430 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
2-3 toe syndactyly, Talipes equinovarus, Clinodactyly of the 5th finger, Joint hypermobility, Bra... |
ORPHA:3306 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Small abnormally ... |
ORPHA:140 |
| Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Micrognathia, Brachydactyly |
ORPHA:436245 |
| Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Joint laxity, Pes planus, Calcaneovalgus deformity, Genu recurvatum |
OMIM:225320 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Delayed ep... |
OMIM:241530 |
| Meier-Gorlin Syndrome 4 |
|
Genu recurvatum, Micrognathia, Delayed skeletal maturation, Patellar aplasia, Slender long bone |
OMIM:613804 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Broad hallux, Sandal gap, Micrognathia, Mesomelia, Camptodactyly, Prominent fingertip pads, Clino... |
OMIM:618529 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Joint laxity, Hip contracture, Brachydactyly, Microretrognathia, Overlapping toe, Rocker bottom f... |
ORPHA:488642 |
| Arthrogryposis, Distal, Type 5D |
|
Congenital hip dislocation, Limited elbow movement, Micrognathia, Limited knee flexion, Calcaneov... |
OMIM:615065 |
| Grange Syndrome |
|
Syndactyly, Recurrent fractures, Increased susceptibility to fractures, Finger clinodactyly, Brac... |
OMIM:602531 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl... |
ORPHA:958 |
| Coffin-Siris Syndrome 6 |
|
Wormian bones, Clinodactyly, Micrognathia, Brachydactyly |
OMIM:617808 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Delayed skeletal maturation, Abnormality of the elbow, Brachydactyly |
ORPHA:2701 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Brachydactyly, Rhizomelia, Flat capital femoral epiphysis, Metaphyseal widening, Dela... |
OMIM:271510 |
| Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m... |
ORPHA:1422 |
| Gorlin Syndrome |
|
Vertebral fusion, Arachnodactyly, Palmar pits, Plantar pits, Brachydactyly |
ORPHA:377 |
| Seckel Syndrome 1 |
|
Ivory epiphyses, Pes planus, 11 pairs of ribs, Sandal gap, Abnormal finger flexion crease, Single... |
OMIM:210600 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Joint laxity, Scapular winging, Short metacarpal, Toe syndactyly, Micrognathia, Delayed skeletal ... |
OMIM:170390 |
| 16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Tapered finger, 2-3 toe syndactyly, Clinodactyly of the 4th finger, Short 5th fing... |
ORPHA:485405 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Brachydactyly, Abnormal metacarpal morphology |
ORPHA:93262 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Hypoplastic iliac wing, Limitation of joint mobility, Coxa vara, Irregular epiphyses, Short femor... |
OMIM:313400 |
| Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Clinodactyly, Talipes equinovarus, Brachydactyly, Camptodactyly |
OMIM:616354 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion con... |
OMIM:271640 |
| Specific Granule Deficiency 2 |
|
Osteopenia, Sandal gap, Brachydactyly |
OMIM:617475 |
| Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Short phalanx of finger, Micromelia, Brachydactyly |
OMIM:600092 |
| Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
| Oncogenic Osteomalacia |
|
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal foot morphology, Bone ... |
ORPHA:352540 |
| Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Micrognathia, Adactyly, Split hand, Aplasia/Hypoplasia of finge... |
ORPHA:989 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Sandal gap, Micrognathia, 2-3 toe syndactyly, Small thenar eminence, Joint contracture of the 4th... |
OMIM:618914 |
| Greenberg Dysplasia |
|
Micromelia, Micrognathia, Multiple prenatal fractures, Patchy variation in bone mineral density, ... |
OMIM:215140 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Pes planus, Short femur, Talipes, Micrognathia, Talipes equinovarus, Broad distal phalanx of fing... |
OMIM:300990 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Short fourth metatarsal, Patellar hypoplasia, Brachydactyly |
ORPHA:464288 |
| Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... |
OMIM:618782 |
| Three M Syndrome 3 |
|
Slender long bone, Hip dysplasia, Clinodactyly of the 5th finger, Prominent calcaneus, Joint hype... |
OMIM:614205 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Osteopenia, Syndactyly, Short digit, Microretrognathia, Proximal placement of thumb, Talipes equi... |
OMIM:615789 |
| 2Q31.1 Microdeletion Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,... |
ORPHA:251014 |
| Dysostosis, Stanescu Type |
|
Bowing of the long bones, Persistent open anterior fontanelle, Wormian bones, Increased bone mine... |
ORPHA:1798 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Abnormal metaphysis morphology, Long fibula, Reduced bone mineral density |
ORPHA:935 |
| Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Joint laxity, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irr... |
OMIM:610442 |
| Larsen-Like Syndrome |
|
Joint dislocation, Joint laxity, Delayed skeletal maturation, Talipes equinovarus, Radial deviati... |
OMIM:608545 |
| Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac... |
OMIM:259420 |
| Corneodermatoosseous Syndrome |
|
Abnormality of the hand, Abnormal finger morphology, Palmoplantar keratoderma, Short palm, Abnorm... |
ORPHA:3194 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Pes planus, Congenital hip dislocation, Joint hypermobility, Tapered finger, Microgna... |
OMIM:616007 |
| Gracile Bone Dysplasia |
|
Slender long bone, Decreased skull ossification, Flared metaphysis, Brachydactyly |
OMIM:602361 |
| 15Q24 Microdeletion Syndrome |
|
Joint laxity, Proximal placement of thumb, Abnormal thumb morphology, Abnormal toe morphology, Sm... |
ORPHA:94065 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta |
OMIM:601612 |
| Osteoglophonic Dysplasia |
|
Osteopenia, Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, Broad metacar... |
OMIM:166250 |
| Acrootoocular Syndrome |
|
Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased palmar creases, Abnormal finge... |
ORPHA:2980 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Short femur, Tapered finger |
OMIM:618367 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Bilateral single transverse palmar creases, Delayed skeletal maturation, Large hands, Broad thumb... |
ORPHA:1770 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Elbow dislocation, Postaxial hand polydactyly, Hypoplastic vertebral bodies, Pa... |
ORPHA:2916 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Micrognathia, Flexion contracture, Talipes calcaneovalgus, Knee flex... |
OMIM:265000 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Subperiost... |
OMIM:264700 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Tarsal synostosis, Craniosynostosis, Ulnar bowing, Humeroradi... |
OMIM:201750 |
| Fountain Syndrome |
|
Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Abnormal foot morphology, Large hand... |
ORPHA:3219 |
| Lymphedema-Hypoparathyroidism Syndrome |
|
Increased carrying angle, Brachydactyly |
OMIM:247410 |
| 2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Tracheomalacia, Small hand, S... |
ORPHA:1001 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Subperiost... |
OMIM:277440 |
| Coffin-Siris Syndrome 2 |
|
Delayed skeletal maturation, Brachydactyly, Sandal gap, Short distal phalanx of finger |
OMIM:614607 |
| Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Micrognathia, Short middle phalanx of the 2nd finger, Absent... |
OMIM:119600 |
| Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
11 pairs of ribs, Hip contracture, Micrognathia, Metatarsus adductus, Calcaneovalgus deformity, E... |
OMIM:616266 |
| Weill-Marchesani Syndrome 4 |
|
Joint stiffness, Brachydactyly |
OMIM:613195 |
| Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Micrognathia, Flat glenoid fossa, Flexion contracture, Cutaneous finger syndacty... |
OMIM:224690 |
| Pseudohypoparathyroidism, Type Ic |
|
Short metacarpal, Short metatarsal, Osteoporosis, Brachydactyly |
OMIM:612462 |
| Campomelia, Cumming Type |
|
Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Clubbing of toes, Brachydactyly |
ORPHA:1318 |
| Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Limited elbow movement, Limited wrist movement, Delayed skeletal maturation... |
OMIM:617809 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Brachydactyly, Short distal phalanx of finger |
ORPHA:1563 |
| Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Finger syndactyly, Brachydactyly, Delayed skeletal maturation, Small hand, Sho... |
ORPHA:1786 |
| Tonne-Kalscheuer Syndrome |
|
Pes planus, Micrognathia, Broad thumb, Brachydactyly |
OMIM:300978 |
| Pycnodysostosis |
|
Joint laxity, Persistent open anterior fontanelle, Increased bone mineral density, Rhizomelia, Lo... |
ORPHA:763 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... |
OMIM:276820 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Delayed skelet... |
OMIM:614800 |
| Meier-Gorlin Syndrome 2 |
|
Micrognathia, Delayed skeletal maturation, Patellar aplasia, Slender long bone, Camptodactyly, Tr... |
OMIM:613800 |
| Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Generalized joint lax... |
ORPHA:93357 |
| Familial Aortic Dissection |
|
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... |
ORPHA:229 |
| Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... |
OMIM:612651 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Brachydactyly |
ORPHA:2180 |
| Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
| Aredyld Syndrome |
|
Abnormal pelvic girdle bone morphology, Brachydactyly |
ORPHA:1133 |
| Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Abnormal diaphysis morphology, Short r... |
ORPHA:2021 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Single transverse palmar crease, 2-3 toe syndactyly, Coxa vara, Radioulnar synostosis... |
OMIM:614701 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, M... |
ORPHA:570 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Brachydactyly, Micrognathia, Camptodactyly of finger, Bilateral single transverse palmar creases |
ORPHA:2083 |
| Smith-Magenis Syndrome |
|
Pes planus, Broad palm, Short palm, Abnormal forearm morphology, Brachydactyly |
OMIM:182290 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Brachydactyly, Short palm |
ORPHA:3217 |
| Intellectual Developmental Disorder, Autosomal Recessive 78 |
|
Microretrognathia, Delayed skeletal maturation, Clinodactyly of the 5th finger, Cubitus valgus, B... |
OMIM:620237 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Tricuspid regurgitation, Bicuspid aortic valve, Proximal placement of thumb, Spina bifida, Abnorm... |
ORPHA:1120 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Micromelia, Delayed skeletal maturation, Coxa vara, Narrow pelvis bone, Joint hyperflexibility, A... |
ORPHA:2637 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... |
ORPHA:1112 |
| Dent Disease 1 |
|
Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractures, Bowing of the le... |
OMIM:300009 |
| Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h... |
OMIM:200980 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Metaphyseal dysplasia, Short metacarpal, Craniosynostosis, Micrognathia, Metaphyseal chondrodyspl... |
OMIM:250410 |
| Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Recurrent fractures, Hyperextensibility of the knee, Micrognathia, Delayed skeleta... |
OMIM:601812 |
| Rin2 Syndrome |
|
Pes planus, Increased susceptibility to fractures, Joint hypermobility, Brachydactyly |
ORPHA:217335 |
| Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia... |
ORPHA:40366 |
| Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
| 8Q24.3 Microdeletion Syndrome |
|
Long toe, Pes planus, Joint laxity, Congenital hip dislocation, Short femur, Single transverse pa... |
ORPHA:508488 |
| Distal Deletion 10Q |
|
Pes planus, Scapular winging, Prominent metopic ridge, Sandal gap, Single transverse palmar creas... |
ORPHA:96148 |
| Weaver Syndrome |
|
Short fourth metatarsal, Single transverse palmar crease, Accelerated skeletal maturation, Calcan... |
OMIM:277590 |
| Infantile Systemic Hyalinosis |
|
Osteopenia, Camptodactyly of finger, Micromelia, Osteomalacia, Recurrent fractures, Joint stiffne... |
ORPHA:2176 |
| Suleiman-El-Hattab Syndrome |
|
Microretrognathia, Single transverse palmar crease, Polydactyly, Clinodactyly, Brachydactyly |
OMIM:618950 |
| Adams-Oliver Syndrome |
|
Finger syndactyly, Brachydactyly, Talipes, Abnormality of the lower limb, Absent toe, Split hand,... |
ORPHA:974 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Narrow greater sciatic notch, Short phalanx of finger, Broa... |
ORPHA:508533 |
| Microcephaly-Capillary Malformation Syndrome |
|
Clinodactyly, Brachydactyly, Short distal phalanx of finger |
OMIM:614261 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Clinodactyly, Brachydactyly |
OMIM:618048 |
| Ellis-Van Creveld Syndrome |
|
Capitate-hamate fusion, Postaxial hand polydactyly, Genu valgum, Postaxial foot polydactyly, Shor... |
OMIM:225500 |
| Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... |
OMIM:610915 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Join... |
OMIM:268310 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Ankle clonus, Pes valgus, Brachydactyly |
OMIM:619995 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... |
ORPHA:1880 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Short femur, Polydactyly, Flexion contracture |
ORPHA:17 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Pes planus, Short metacarpal, Craniosynostosis, Micrognathia, Metaphyseal chondrod... |
ORPHA:166035 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Brachydactyly, Micrognathia, Partial duplication of thumb phalanx, Partial duplication of the pha... |
OMIM:616331 |
| Trisomy 9P |
|
Clinodactyly of the 5th finger, Brachydactyly, Bilateral single transverse palmar creases |
ORPHA:236 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Broad thumb, Broad distal phalanx of finger, Brachydactyly |
OMIM:617763 |
| Osteogenesis Imperfecta, Type I |
|
Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures, Hip dyspl... |
OMIM:166200 |
| Distal Duplication 5Q |
|
Hypoplasia of the ulna, Craniosynostosis, Absent thumb, Micrognathia, Hypoplasia of the radius, B... |
ORPHA:96097 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short metacarpal, Brachydactyly, Accelerated skeletal maturation, Neonatal epiphyseal stippling, ... |
OMIM:101800 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Joint hypermobility, Joint stiffness, Short long bone, Short palm, Tracheobronc... |
OMIM:619184 |
| Cranioectodermal Dysplasia 3 |
|
Joint laxity, Rhizomelia, Sandal gap, Postaxial polydactyly, Sagittal craniosynostosis, 2-4 toe s... |
OMIM:614099 |
| Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Delayed skeletal maturation, Symphalangism affecting the phalanges of the hand, Short distal phal... |
ORPHA:1292 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Short humerus, Rhizomelia, Micrognathia, Flexion contracture, Epiphyseal stippling, A... |
OMIM:222765 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Coxa vara, Tibial bowing, Reduced bone mineral density, Abnormal bone ossification, Hypoplastic i... |
ORPHA:93315 |
| Mosaic Trisomy 8 |
|
Camptodactyly of finger, Micrognathia, Patellar aplasia, Limitation of joint mobility, Narrow pel... |
ORPHA:96061 |
| Pseudoaminopterin Syndrome |
|
Pes planus, Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow moveme... |
ORPHA:221120 |
| Aorta Coarctation |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Pa... |
ORPHA:1457 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Scapular winging, Sandal gap, Single transverse palmar crease, Tapered finger, Micrognathia, 2-3 ... |
OMIM:617061 |
| Radio-Renal Syndrome |
|
Micromelia, Micrognathia, Hypoplasia of the radius, Abnormality of the elbow, Short palm, Brachyd... |
ORPHA:3015 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Brachydactyly, Sandal gap, Broad hallux, Clinodactyly, 3-4 toe syndactyly |
OMIM:618727 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Micrognathia, Flexion contracture, Short foot, Talipes calcaneovarus, Large hands, Talipes equino... |
OMIM:300534 |
| Coffin-Lowry Syndrome |
|
Pes planus, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, Tapered finger, ... |
ORPHA:192 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic regurgitation, Thoracic aortic aneurysm, Bicuspid aortic valve, Carotid artery stenosis, P... |
OMIM:132900 |
| Cartilage-Hair Hypoplasia |
|
Joint laxity, Metaphyseal dysplasia, Hypoplasia of the odontoid process, Metaphyseal widening, Co... |
OMIM:250250 |
| Amelia, Posterior, With Pelvic And Pulmonary Hypoplasia Syndrome |
|
Amelia |
OMIM:601360 |
| Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Absent sternal ossification, Aplasia/Hypoplasia of the patella, Micrognathia, ... |
OMIM:613803 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Enlargement of the ankles, Wide cranial sutures, Osteomalacia, Irregular, rachitic-like metaphyse... |
ORPHA:289157 |
| Developmental And Epileptic Encephalopathy 95 |
|
Joint laxity, Short fourth metatarsal, Brachydactyly, Multiple joint contractures, Single transve... |
OMIM:618143 |
| Müllerian Aplasia And Hyperandrogenism |
|
Cubitus valgus, Brachydactyly |
ORPHA:247768 |
| Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si... |
ORPHA:2299 |
| Acromelic Frontonasal Dysplasia |
|
Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia |
ORPHA:1827 |
| Cinca Syndrome |
|
Joint dislocation, Delayed closure of the anterior fontanelle, Abnormal joint morphology, Reduced... |
ORPHA:1451 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, S... |
OMIM:126320 |
| Coffin-Siris Syndrome 7 |
|
Clinodactyly of the 5th finger, Sagittal craniosynostosis, Brachydactyly |
OMIM:618027 |
| Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, Abnormality of t... |
ORPHA:2911 |
| Monosomy 18P |
|
Micrognathia, Brachydactyly |
ORPHA:1598 |
| Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Craniosynostosi... |
ORPHA:794 |
| Three M Syndrome 2 |
|
Scapular winging, Delayed skeletal maturation, Slender long bone, Short 5th finger, Prominent cal... |
OMIM:612921 |
| Cardiofacioneurodevelopmental Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Micrognathia, Camptodactyly |
OMIM:619123 |
| Orthostatic Hypotension 1 |
|
Joint hypermobility, Brachydactyly |
OMIM:223360 |
| Trisomy 8Q |
|
Camptodactyly of finger, Micrognathia, Joint stiffness, Deep palmar crease, Brachydactyly |
ORPHA:1752 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Proximal placement of thumb, Micrognathia, Short palm, Tracheomalacia, Clinodactyly, ... |
OMIM:217980 |
| Craniofacioskeletal Syndrome |
|
Pes planus, Micrognathia, Hypoplastic frontal sinuses, Small hand, Short foot, Short palm, Clinod... |
OMIM:300712 |
| You-Hoover-Fong Syndrome |
|
Clinodactyly, Brachydactyly |
OMIM:616954 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Small cervical vertebral bodies, Abnormal acetabulum morphology, Postaxial polydactyly, Micrognat... |
ORPHA:397715 |
| Rothmund-Thomson Syndrome Type 2 |
|
Joint dislocation, Osteopenia, Short metacarpal, Plantar hyperkeratosis, Aplasia/hypoplasia invol... |
ORPHA:221016 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, C... |
ORPHA:2636 |
| Isolated Epispadias |
|
Abnormal pelvic girdle bone morphology |
ORPHA:93928 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Congenital contracture, Micrognathia, Brachydactyly |
OMIM:620156 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Left-to-right shunt, Ventricular septal defect, Congestive heart failure, P... |
ORPHA:99050 |
| Adams-Oliver Syndrome 5 |
|
Syndactyly, Brachydactyly |
OMIM:616028 |
| Caudal Regression Syndrome |
|
Joint stiffness, Missing ribs, Abnormal iliac wing morphology, Aplasia/Hypoplasia of the sacrum, ... |
ORPHA:3027 |
| Genitopalatocardiac Syndrome |
|
Postaxial hand polydactyly, Micrognathia, Brachydactyly |
ORPHA:2075 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Tibial bowing, Fem... |
OMIM:304120 |
| Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Bowing of the legs, Short toe, Broad palm, Short foot, Short long bone, Sho... |
OMIM:269860 |
| Campomelic Dysplasia |
|
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... |
OMIM:114290 |
| Hydrolethalus Syndrome 1 |
|
Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ha... |
OMIM:236680 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Toe syndactyly, Single transverse palmar crease, Proximal placement of thumb, Limited elbow movem... |
OMIM:610759 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Brachydactyly, Drumstick terminal phalanges |
OMIM:612938 |
| Cranioectodermal Dysplasia 1 |
|
Joint laxity, Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar creas... |
OMIM:218330 |
| Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Delayed skeletal maturation, Brachydactyly |
OMIM:608624 |
| Alg8-Cdg |
|
Brachydactyly, Talipes equinovarus, Camptodactyly |
ORPHA:79325 |
| Oculodentodigital Dysplasia |
|
Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypoplasia of t... |
ORPHA:2710 |
| Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Micrognathia, Central Y-shaped metacarpal, Preaxial polydactyl... |
ORPHA:2754 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Brachydactyly, Tapered finger |
OMIM:619680 |
| Wiedemann-Rautenstrauch Syndrome |
|
Long toe, Short humerus, Short femur, Delayed closure of the anterior fontanelle, Micrognathia, H... |
OMIM:264090 |
| Smith-Magenis Syndrome |
|
Pes planus, Toe syndactyly, Joint stiffness, Micrognathia, Hand polydactyly, Clinodactyly of the ... |
ORPHA:819 |
| Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Tibial bo... |
OMIM:231070 |
| 17Q23.1Q23.2 Microdeletion Syndrome |
|
Long toe, Pes planus, Sandal gap, Long fingers, Limitation of joint mobility, Patellar hypoplasia... |
ORPHA:261279 |
| Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
| 3C Syndrome |
|
Finger syndactyly, Micrognathia, Missing ribs, Hand polydactyly, Abnormal hip bone morphology, Br... |
ORPHA:7 |
| Harrod Syndrome |
|
Abnormal shoulder morphology, Joint hyperflexibility, Abnormal pelvic girdle bone morphology, Ara... |
ORPHA:2115 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Flexion contracture, Short long bone, Brachydactyly |
OMIM:619479 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Micrognathia, Bilateral single transverse palmar creases, Synostosis of carpal bones |
ORPHA:3191 |
| Cartilage-Hair Hypoplasia |
|
Micromelia, Accelerated skeletal maturation, Metaphyseal chondrodysplasia, Tibial bowing, Abnorma... |
ORPHA:175 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Short proximal phalanx of the 2nd finger, Delayed skele... |
ORPHA:261323 |
| Femoral-Facial Syndrome |
|
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... |
OMIM:134780 |
| Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Clinodactyly, Talipes equinovarus, Brachydactyly, Camptodactyly |
ORPHA:397709 |
| Short Syndrome |
|
Joint hyperflexibility, Brachydactyly, Short palm |
ORPHA:3163 |
| Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Short metacarpal, Plantar hyperkeratosis, Metaphyseal sclerosis, Delayed skeletal mat... |
ORPHA:221008 |
| Carey-Fineman-Ziter Syndrome |
|
Micrognathia, Aplasia of the pectoralis major muscle, Ulnar deviation of finger, Talipes equinova... |
ORPHA:1358 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Micrognathia, Short foot, Joint hyperflexibility, Clin... |
ORPHA:1974 |
| Meier-Gorlin Syndrome 6 |
|
Microretrognathia, Sandal gap, Delayed skeletal maturation, Patellar aplasia, Hip dysplasia, Shor... |
OMIM:616835 |
| Craniofrontonasal Syndrome |
|
Joint laxity, Toe syndactyly, Broad hallux, Down-sloping shoulders, Clinodactyly of the 5th finge... |
OMIM:304110 |
| Frontorhiny |
|
Finger clinodactyly, Hypoplastic frontal sinuses, Camptodactyly of finger, Brachydactyly |
ORPHA:391474 |
| Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Joint stiffness, Delayed skeletal maturation, Short metatarsal, Broad palm, Elb... |
OMIM:608328 |
| Orofaciodigital Syndrome Xix |
|
Toe syndactyly, Broad hallux, Type A brachydactyly, Postaxial hand polydactyly, Postaxial foot po... |
OMIM:620107 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Increased bone mineral density, Osteomalacia, Craniosynostosis, Rickets of the lower limbs, Lower... |
ORPHA:289176 |
| 9Q33.3Q34.11 Microdeletion Syndrome |
|
Prominent metopic ridge, Single transverse palmar crease, Patellar aplasia, Patellar hypoplasia, ... |
ORPHA:495818 |
| Weill-Marchesani Syndrome 1 |
|
Joint stiffness, Broad palm, Broad phalanges of the hand, Broad metacarpals, Broad metatarsal, Br... |
OMIM:277600 |
| Kabuki Syndrome 2 |
|
Joint laxity, Micrognathia, Hip dislocation, Short 5th finger, Prominent fingertip pads, Brachyda... |
OMIM:300867 |
| Pseudohypoparathyroidism Type 1C |
|
Short metacarpal, Short fifth metatarsal, Increased bone mineral density, Short metatarsal, Short... |
ORPHA:79444 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Rocker bottom foot, Tapered finger, Finger clinodactyly, Camptodactyly, Brachydactyly |
OMIM:601353 |
| Larsen Syndrome |
|
Joint laxity, Vertebral fusion, Short metacarpal, Spatulate thumbs, Elbow dislocation, Talipes eq... |
OMIM:150250 |
| Camurati-Engelmann Disease |
|
Abnormal morphology of the radius, Metaphyseal dysplasia, Pes planus, Abnormal morphology of ulna... |
ORPHA:1328 |
| Trisomy 20P |
|
Finger syndactyly, Camptodactyly of finger, Talipes, Micrognathia, Preaxial hand polydactyly, Abn... |
ORPHA:261318 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Microretrognathia, Craniosynostosis, Brachydactyly |
ORPHA:457193 |
| Radio-Tartaglia Syndrome |
|
Pes planus, Micrognathia, Tapered finger, Pes cavus, Brachydactyly |
OMIM:619312 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Hallux valgus, Joint dislocation, Osteopenia, Pes planus, Arachnodactyly, Sandal gap, Phalangeal ... |
ORPHA:536532 |
| Bardet-Biedl Syndrome 1 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ... |
OMIM:209900 |
| Macs Syndrome |
|
Joint laxity, Pes planus, Single transverse palmar crease, Micrognathia, Osteoporosis, Joint hype... |
OMIM:613075 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Increased bone mineral density, Aplastic clavicle, Abnormal metacarpal morphol... |
ORPHA:2658 |
| Distal Deletion 9P |
|
Brachydactyly |
ORPHA:1642 |
| Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
| Myhre Syndrome |
|
Brachydactyly, Joint stiffness, Abnormal epiphysis morphology, Short palm, Large iliac wing, Abno... |
ORPHA:2588 |
| Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Bifid femur, Increased s... |
ORPHA:2769 |
| Recombinant 8 Syndrome |
|
Camptodactyly of finger, Micrognathia, Patellar aplasia, Deep plantar creases, Clinodactyly of th... |
ORPHA:96167 |
| Melnick-Needles Syndrome |
|
Short humerus, Pes planus, Hypoplastic scapulae, Coxa valga, Micrognathia, Flared metaphysis, Hip... |
OMIM:309350 |
| Autosomal Recessive Robinow Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Bilateral single transverse palmar creas... |
ORPHA:1507 |
| Down Syndrome |
|
Joint laxity, Sandal gap, Bilateral single transverse palmar creases, Clinodactyly of the 5th fin... |
ORPHA:870 |
| Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Down-sloping shoulders, Palmar pits, Plantar pits, Irregular ossification of ha... |
OMIM:109400 |
| Townes-Brocks Syndrome 1 |
|
2-4 finger syndactyly, Pseudoepiphyses of second metacarpal, 1-2 toe syndactyly, Talipes, Preaxia... |
OMIM:107480 |
| 15q26 overgrowth syndrome |
|
Long toe, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Tapered finger, Abnormal toe... |
DECIPHER:81 |
| Trisomy 8P |
|
Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse palmar crease... |
ORPHA:264450 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Short distal phalanx of finger, Generalize... |
ORPHA:2959 |
| Kleefstra Syndrome 1 |
|
Talipes equinovarus, Tracheobronchomalacia, Single transverse palmar crease, Brachydactyly |
OMIM:610253 |
| Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B... |
ORPHA:99094 |
| Silver-Russell Syndrome |
|
Sandal gap, Lower limb asymmetry, Micrognathia, Delayed skeletal maturation, Upper limb asymmetry... |
ORPHA:813 |
| Apert Syndrome |
|
Syndactyly, Finger syndactyly, Limited elbow movement, Sagittal craniosynostosis, Craniosynostosi... |
OMIM:101200 |
| Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Toe syndactyly, Sandal gap, Abnormality of thumb phalanx, Cranio... |
ORPHA:235 |
| Scimitar Syndrome |
|
Heart block, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus a... |
ORPHA:185 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Delayed skeletal maturation, Abnormal pelvic girdle bone morphology, Pes cavus, Carpal bone hypop... |
OMIM:601162 |
| Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Absent radius, Preaxial hand polydactyly, Hypoplas... |
ORPHA:233 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postaxial polydactyly, Epiphyseal stippling, Abnormal pelvic girdle bone morphology, ... |
OMIM:302960 |
| Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Cardiomegaly, Congestive heart fa... |
ORPHA:980 |
| Wiedemann-Rautenstrauch Syndrome |
|
Long toe, Short humerus, Osteopenia, Short femur, Camptodactyly of finger, Hypoplastic ilia, Long... |
ORPHA:3455 |
| Myhre Syndrome |
|
Vertebral fusion, Overlapping toe, Joint stiffness, Short toe, Limitation of joint mobility, 2-3 ... |
OMIM:139210 |
| Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Elbow dislocation, Micrognathia, De... |
ORPHA:2554 |
| Nicolaides-Baraitser Syndrome |
|
Long toe, Hallux valgus, Short metacarpal, Enlarged joints, Sandal gap, Single transverse palmar ... |
OMIM:601358 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Micrognathia, Mesomelia, Camptodactyly, Clinodactyly, Short phalanx of finger, Broad ... |
OMIM:616894 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Syndactyly, Narrow joint spaces of the elbow, Delayed closure of the anterior fontanelle, Lower l... |
ORPHA:96182 |
| Pseudohypoparathyroidism Type 1A |
|
Short metacarpal, Short fifth metatarsal, Increased bone mineral density, Broad 1st metacarpal, S... |
ORPHA:79443 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Pes planus, Craniosynostosis, Contracture of the proximal interphalangeal joint of the 4th finger... |
OMIM:618050 |
| Osteopathia Striata With Cranial Sclerosis |
|
Paranasal sinus hypoplasia, Arachnodactyly, Delayed closure of the anterior fontanelle, Tracheoma... |
OMIM:300373 |
| Ellis Van Creveld Syndrome |
|
Micromelia, Capitate-hamate fusion, Delayed skeletal maturation, Genu valgum, Abnormal pelvic gir... |
ORPHA:289 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Bowing of the long bones, Coarse metaphyseal trabecularization, Brachydactyly, Recurr... |
ORPHA:955 |
| Intellectual Disability, Buenos-Aires Type |
|
Clinodactyly of the 5th finger, Abnormal pelvic girdle bone morphology, Reduced bone mineral density |
ORPHA:3079 |
| Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Hypoplasia of the ulna, Radial deviati... |
OMIM:218600 |
| Meester-Loeys Syndrome |
|
Joint dislocation, Pes planus, Arachnodactyly, Broad distal phalanx of finger, Camptodactyly, Joi... |
OMIM:300989 |
| Sclerosteosis 1 |
|
Syndactyly, Sclerotic scapulae, 2-3 finger syndactyly, Deviation of finger, Abnormal pelvic girdl... |
OMIM:269500 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Rhizomelic arm shortening, Short metacarpal, Short humerus, Brachydactyly |
ORPHA:508542 |
| Floating-Harbor Syndrome |
|
Joint laxity, 11 pairs of ribs, Brachydactyly, Ivory epiphyses of the distal phalanges of the han... |
OMIM:136140 |
| Down Syndrome |
|
Joint laxity, Sandal gap, Single transverse palmar crease, Hypoplastic iliac wing, Broad palm, Sh... |
OMIM:190685 |
| Eisenmenger Syndrome |
|
Ventricular tachycardia, Pedal edema, Aortopulmonary window, Bacterial endocarditis, Supraventric... |
ORPHA:97214 |
| Maternal Phenylketonuria |
|
Clinodactyly, Brachydactyly, Micrognathia, Bifid distal phalanx of the thumb |
ORPHA:2209 |
| White-Sutton Syndrome |
|
Joint laxity, Micrognathia, Hypoplastic cervical vertebrae, Broad foot, Wormian bones, Broad thum... |
OMIM:616364 |
| Genitopatellar Syndrome |
|
Hip contracture, Congenital hip dislocation, Micrognathia, Patellar aplasia, Inferior pubic ramus... |
OMIM:606170 |
| Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micrognathia, Clinodactyly of the 5th finger,... |
ORPHA:1587 |
| Raine Syndrome |
|
Bowing of the long bones, Increased bone mineral density, Micromelia, Micrognathia, Arthrogryposi... |
OMIM:259775 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Limited elbow extension and supination, Brachydactyly, Broad toe, Rhizomelia, Micrognathia, Delay... |
OMIM:180700 |
| Prader-Willi Syndrome Due To Translocation |
|
Pes planus, Overlapping toe, Micrognathia, Small hand, Short foot, Bilateral talipes equinovarus,... |
ORPHA:177907 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Prominent metopic ridge, Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phal... |
ORPHA:364577 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglottis, Cone-shaped epiphys... |
OMIM:617088 |
| Acrocallosal Syndrome |
|
Microretrognathia, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Tapered finge... |
OMIM:200990 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Craniosynostosis, Aplasia/Hypoplasia involving bones of the skull, Unilateral brachyd... |
ORPHA:1521 |
| Kinsship Syndrome |
|
Osteopenia, Pes planus, Single transverse palmar crease, Coxa valga, Micrognathia, Hip dislocatio... |
OMIM:619297 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Broad hallux, Single transverse palmar crease, Micrognathia, Clinodactyly of the 5th finger, Join... |
OMIM:617062 |
| Autosomal Dominant Robinow Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Micromelia, Coxa valga, Elbow dislocation, Avascular ... |
ORPHA:3107 |
| Adnp Syndrome |
|
Joint laxity, Broad hallux, Single transverse palmar crease, Sandal gap, Abnormal toe morphology,... |
ORPHA:404448 |
| Toriello-Lacassie-Droste Syndrome |
|
Brachydactyly, Short palm |
ORPHA:3339 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... |
OMIM:619702 |
| Orofaciodigital Syndrome Type 4 |
|
Joint dislocation, Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial... |
ORPHA:2753 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Joint stiffness, Flexion contracture, Talipes equinovarus, Clinodactyly of the 5th finger, Brachy... |
ORPHA:847 |
| Chops Syndrome |
|
Tracheomalacia, Cervical C2/C3 vertebral fusion, Brachydactyly |
OMIM:616368 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis,... |
ORPHA:3427 |
| Bladder Exstrophy And Epispadias Complex |
|
Abnormal pelvic girdle bone morphology |
OMIM:600057 |
| Cardiac-Urogenital Syndrome |
|
Tachycardia, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enla... |
OMIM:618280 |
| Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Micrognathia, Humeroradial synostosis, Hypoplasia of the radius,... |
ORPHA:3404 |
| Focal Dermal Hypoplasia |
|
Joint laxity, Short metacarpal, Toe syndactyly, Congenital hip dislocation, Postaxial hand polyda... |
OMIM:305600 |
| Carpenter Syndrome 2 |
|
Short digit, Single transverse palmar crease, Postaxial polydactyly, Craniosynostosis, Preaxial p... |
OMIM:614976 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Overlapping toe, Craniosynostosis, Tapered finger, Micrognathia, Delayed skeletal maturation, Fle... |
OMIM:309590 |
| Truncus Arteriosus |
|
Anomalous origin of one pulmonary artery from ascending aorta, Cardiomegaly, Pulmonary artery hyp... |
ORPHA:3384 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Pes planus, Single transverse palmar crease, Pes valgus, Short palm, Prominent fingertip pads, Br... |
ORPHA:466950 |
| Developmental And Epileptic Encephalopathy 100 |
|
Single transverse palmar crease, Micrognathia, Bilateral camptodactyly, Elbow flexion contracture... |
OMIM:619777 |
| Orofaciodigital Syndrome I |
|
Microretrognathia, Syndactyly, Short 2nd toe, Polydactyly, Radial deviation of finger, Clinodacty... |
OMIM:311200 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Microretrognathia, Pes cavus, Proportionate shortening of all digits, Tapered finger, Small hand,... |
ORPHA:280633 |
| Ayme-Gripp Syndrome |
|
Tapered finger, Radioulnar synostosis, Camptodactyly, Delayed cranial suture closure, Brachydactyly |
OMIM:601088 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Clinodactyly of the 5th finger, Short thumb, Brachydactyly, Tapered finger |
ORPHA:477993 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Finger clinodactyly, Pectoral muscle hypoplasia/aplasia, Aplasia/Hypopla... |
ORPHA:306542 |
| Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Bifid distal phalanx of the thumb, Micrognat... |
ORPHA:97360 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Brachydactyly |
ORPHA:168577 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
| Smith-Lemli-Opitz Syndrome |
|
Finger syndactyly, Rhizomelia, Proximal placement of thumb, Micrognathia, Postaxial hand polydact... |
ORPHA:818 |
| Noonan Syndrome |
|
Micrognathia, Delayed skeletal maturation, Joint hyperflexibility, Radioulnar synostosis, Clinoda... |
ORPHA:648 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Tracheomalacia, Micrognathia, Small hand, Fibular hypoplasia, Hypoplasia of proximal radius, Worm... |
ORPHA:444077 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Long foot, Broad 2nd toe, Palmoplantar hyperkeratosis, Large hands, Bilateral talipes equinovarus... |
OMIM:280000 |
| Cranioectodermal Dysplasia 2 |
|
Joint laxity, Syndactyly, Rhizomelia, Craniosynostosis, Micrognathia, Postaxial hand polydactyly,... |
OMIM:613610 |
| Jacobsen Syndrome |
|
Micrognathia, Missing ribs, Flexion contracture, Clinodactyly of the 5th finger, Brachydactyly |
OMIM:147791 |
| Mgat2-Cdg |
|
Osteopenia, Brachydactyly |
ORPHA:79329 |
| Floating-Harbor Syndrome |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Enlarged joints, Avascular necrosis of the cap... |
ORPHA:2044 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Pes planus, Single transverse palmar crease, Pes valgus, Short palm, Brachydactyly |
ORPHA:466943 |
| Arboleda-Tham Syndrome |
|
Microretrognathia, Pes planus, Brachydactyly, Sandal gap, Deviation of the hallux, Short hallux, ... |
OMIM:616268 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Pulmonary a... |
OMIM:600001 |
| Loeys-Dietz Syndrome 2 |
|
Joint laxity, Syndactyly, Pes planus, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly,... |
OMIM:610168 |
| Specc1L-Related Hypertelorism Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Short toe, Brachydactyly |
ORPHA:1519 |
| Roberts-Sc Phocomelia Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Ankle flexion contracture, Aplasia of the ulna... |
OMIM:268300 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Joint laxity, Pes planus, Brachydactyly, Mesoaxial foot polydactyly, Overlapping toe, Broad hallu... |
OMIM:612474 |
| Peters-Plus Syndrome |
|
Joint laxity, Syndactyly, Short metacarpal, Rhizomelia, Single transverse palmar crease, Limited ... |
OMIM:261540 |
| Toriello-Carey Syndrome |
|
Clinodactyly, Micrognathia, Brachydactyly |
ORPHA:3338 |
| Pgm3-Cdg |
|
Decreased/absent ankle reflexes, Osteomyelitis, Brachydactyly |
ORPHA:443811 |
| Pallister-Hall Syndrome |
|
Microretrognathia, Mesoaxial polydactyly, Broad toe, Toe syndactyly, Overlapping toe, Radial bowi... |
ORPHA:672 |
| Barber-Say Syndrome |
|
Clinodactyly of the 5th finger, Micrognathia, Talipes equinovarus, Brachydactyly |
OMIM:209885 |
| Charge Syndrome |
|
Hypoplasia of the ulna, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Micrognathia, Ab... |
OMIM:214800 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short metacarpal, Short metatarsal, Cubitus valgus, Short distal phalanx of finger, Brachydactyly |
OMIM:617157 |
| Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... |
OMIM:607932 |
| Witteveen-Kolk Syndrome |
|
Joint laxity, Microretrognathia, Toe syndactyly, Overlapping toe, Arachnodactyly, Proximal placem... |
OMIM:613406 |
| 1P36 Deletion Syndrome |
|
11 pairs of ribs, Camptodactyly of finger, Lower limb asymmetry, Joint stiffness, Short foot, Hip... |
ORPHA:1606 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Pes planus, Tapered finger, Micrognathia, Delayed skeletal maturation, Talipes calcaneovalgus, Ge... |
OMIM:309580 |
| Adams-Oliver Syndrome 1 |
|
Toe syndactyly, Talipes equinovarus, Brachydactyly |
OMIM:100300 |
| Holoprosencephaly |
|
Joint hyperflexibility, Hand polydactyly, Talipes, Brachydactyly |
ORPHA:2162 |
| Elsahy-Waters Syndrome |
|
Cervical C2/C3 vertebral fusion, Cutaneous finger syndactyly, Shortening of all phalanges of fing... |
OMIM:211380 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
11 pairs of ribs, Camptodactyly of finger, Delayed closure of the anterior fontanelle, Metatarsus... |
OMIM:607872 |
| Noonan Syndrome 1 |
|
Micrognathia, Synovitis, Radial deviation of finger, Cubitus valgus, Clinodactyly, Brachydactyly |
OMIM:163950 |
| Charge Syndrome |
|
Talipes, Abnormal tibia morphology, Bifid femur, Abnormality of bone mineral density, Clinodactyl... |
ORPHA:138 |
| Cowden Syndrome |
|
Palmoplantar keratoderma, Brachydactyly |
ORPHA:201 |
| Peters Plus Syndrome |
|
Toe syndactyly, Rhizomelia, Micromelia, Micrognathia, Short toe, Short foot, Clinodactyly of the ... |
ORPHA:709 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Accelerated skeletal maturation, Brachydactyly |
ORPHA:293987 |
