| Upington Disease |
|
Flattened femoral head, Multiple enchondromatosis, Broad femoral neck, Arthralgia of the hip |
OMIM:191520 |
| Upington Disease |
|
Premature epimetaphyseal fusion, Flat capital femoral epiphysis, Arthralgia of the hip, Broad fem... |
ORPHA:3408 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
High palate, Coxa vara, Flat capital femoral epiphysis, Cleft palate, Short femur, Micrognathia, ... |
OMIM:147891 |
| Metachondromatosis |
|
Abnormal metaphysis morphology, Multiple enchondromatosis, Abnormal epiphysis morphology |
ORPHA:2499 |
| Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Abnormal pelvic girdle bone morphology, Abnormal metaphysis morphology, Coarse metaphyseal trabec... |
ORPHA:2779 |
| Hypoplastic Femurs And Pelvis |
|
Hypoplastic pelvis, Short femur |
OMIM:619545 |
| Syndactyly Type 2 |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... |
ORPHA:93403 |
| Brachydactyly-Syndactyly Syndrome |
|
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... |
OMIM:610713 |
| Polydactyly, Preaxial Ii |
|
Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ... |
OMIM:174500 |
| Synpolydactyly 1 |
|
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... |
OMIM:186000 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral neck, Wide distal femor... |
OMIM:619598 |
| Postaxial Tetramelic Oligodactyly |
|
Abnormal metacarpal morphology, Abnormality of finger, Oligodactyly, Ectrodactyly |
ORPHA:2730 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Bilateral single transverse palmar ... |
ORPHA:1891 |
| Santos Syndrome |
|
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Brachydactyly, Syndactyly, Poly... |
OMIM:613005 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Easily subluxated first metacarpo... |
OMIM:311895 |
| Brachydactyly, Type C |
|
Pseudoepiphysis of the 2nd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, ... |
OMIM:113100 |
| Coxopodopatellar Syndrome |
|
Aplasia/Hypoplasia of the patella, Abnormal epiphysis morphology, Abnormal pelvic girdle bone mor... |
ORPHA:1509 |
| Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... |
ORPHA:240 |
| Congenital Radioulnar Synostosis |
|
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... |
ORPHA:3269 |
| Syndactyly Type 1 |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syndactyly |
ORPHA:93402 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Rhizomelia, Short humerus, Epiphyseal stippling, Short femur |
OMIM:600121 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Ectrodactyly, Talipes equinovarus, Brachydactyly, Oligodactyly, Split hand |
OMIM:612576 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
| Acrocephalopolysyndactyly Type Iv |
|
Joint contracture of the hand, Hand polydactyly, Syndactyly, Camptodactyly, Ulnar deviation of th... |
OMIM:201020 |
| Syndactyly, Type Iii |
|
Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger, 4-5 finger syndactyly |
OMIM:186100 |
| Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Cleft palate, Hypoplasia of the capital femoral epiphysis, Genu valgum, Rhizomelia, Talipes equin... |
OMIM:601560 |
| Acrorenal Syndrome |
|
Hand oligodactyly |
OMIM:102520 |
| Syndactyly, Type Iv |
|
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... |
OMIM:186200 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
| Acromesomelic Dysplasia 2A |
|
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... |
OMIM:200700 |
| Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
| Chromosome 17Q23.1-Q23.2 Duplication Syndrome |
|
Talipes equinovarus, Hip dysplasia, Genu valgum, Coxa valga, Acetabular dysplasia |
OMIM:613618 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the epiphysis of the femoral head, Coxa vara, Metaphyseal dysplasia, Narrow greate... |
ORPHA:93316 |
| Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
| Arthrogryposis Multiplex Congenita 2, Neurogenic Type |
|
Talipes equinovarus, Arthrogryposis multiplex congenita, Congenital contracture, Skeletal muscle ... |
OMIM:208100 |
| Meier-Gorlin Syndrome 5 |
|
Microtia, Micrognathia, Prominent metopic ridge, Long philtrum, Hypoplasia of the capital femoral... |
OMIM:613805 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Broad hallux, Syndactyly, Hallux varus, Preaxial hand polydactyly |
OMIM:234280 |
| Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Epiphyseal dysplasia, Broad femoral neck, Short femoral neck, Genu varum, Irregular patellae, Pat... |
OMIM:609325 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Proximal symphalangism of hands, Absent dorsal skin creases over affected joints, Small thenar em... |
OMIM:185750 |
| Tetramelic Monodactyly |
|
Split hand, Oligodactyly |
ORPHA:2564 |
| Rapadilino Syndrome |
|
High palate, Joint dislocation, High, narrow palate, Cleft palate, Absent thumb, Aplasia/Hypoplas... |
OMIM:266280 |
| Robin Sequence-Oligodactyly Syndrome |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Cleft palate, Hand oligodactyly, Glo... |
ORPHA:3104 |
| Fibular Hemimelia |
|
Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnormality of fibula mor... |
ORPHA:93323 |
| Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Symphalangism affecting the phalanges of the toes, Symphalangism of the 4th finger, Abnormal palm... |
ORPHA:3246 |
| Lethal Faciocardiomelic Dysplasia |
|
Narrow mouth, Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5... |
ORPHA:1972 |
| Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Foot dorsiflexor weakness, Talipes equinovarus, Peroneal muscle atrophy, Shoulder girdle muscle a... |
OMIM:181400 |
| Dermochondrocorneal Dystrophy |
|
Abnormality of the hand, Large hands, Corneal dystrophy |
ORPHA:79149 |
| Femoral-Facial Syndrome |
|
Preaxial foot polydactyly, Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Cleft... |
ORPHA:1988 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Sensorineural hearing impairment, Cleft palate, Short femur, Glossoptosis, Micrognathia, Femoral ... |
ORPHA:440354 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Malar flattening, Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd meta... |
OMIM:118651 |
| Pierre Robin Syndrome And Oligodactyly |
|
Micrognathia, Hand oligodactyly |
OMIM:172880 |
| Orofaciodigital Syndrome Iv |
|
High palate, Accessory oral frenulum, Cleft palate, Postaxial polydactyly, Micrognathia, Short ti... |
OMIM:258860 |
| Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Coxa vara, Epiphyseal dysplasia, Flat distal femoral epiphysis, Abnormality of the hand, Broad fe... |
OMIM:609324 |
| Polydactyly, Postaxial, Type A5 |
|
Postaxial hand polydactyly, Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis |
OMIM:263450 |
| Meier-Gorlin Syndrome 4 |
|
Narrow mouth, Genu recurvatum, Microtia, Micrognathia, Slender long bone, Patellar aplasia, Hypop... |
OMIM:613804 |
| Neuropathy, Hereditary Motor, With Myopathic Features |
|
Distal upper limb muscle weakness, Talipes equinovarus, Flexion contracture, Proximal muscle weak... |
OMIM:619216 |
| Cleidorhizomelic Syndrome |
|
Clinodactyly of the 5th finger, Bilateral single transverse palmar creases, Brachydactyly, Rhizom... |
ORPHA:1453 |
| Split-Hand/Foot Malformation 6 |
|
Hand oligodactyly, Split foot, Split hand, Foot oligodactyly, Finger syndactyly, Toe syndactyly |
OMIM:225300 |
| Catel-Manzke Syndrome |
|
Clinodactyly of the 5th finger, Radial deviation of the 2nd finger, Cleft palate, Glossoptosis, M... |
ORPHA:1388 |
| Fryns-Smeets-Thiry Syndrome |
|
Wide mouth, Everted lower lip vermilion, Arachnodactyly, Micrognathia, Short philtrum, Downturned... |
ORPHA:2058 |
| Orofaciodigital Syndrome Viii |
|
High palate, Cleft palate, Short tibia, Syndactyly, Polydactyly, Median cleft lip |
OMIM:300484 |
| Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Tooth agenesis, Micrognathia, Brachydactyly, Mesomelia, Abnormal shoulder morphology, Abnormal pa... |
ORPHA:1277 |
| Syndactyly Type 5 |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly... |
ORPHA:93406 |
| Syndactyly Type 3 |
|
Short toe, Finger syndactyly, Camptodactyly of finger |
ORPHA:93404 |
| Laurin-Sandrow Syndrome |
|
Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B... |
OMIM:135750 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Hip dysplasia, Finger syndactyly, Radioulnar synostosis |
ORPHA:71289 |
| Distal Arthrogryposis Type 1 |
|
Abnormal hip bone morphology, Adducted thumb, Camptodactyly of finger, Overlapping fingers, Ulnar... |
ORPHA:1146 |
| Spondylometaphyseal Dysplasia, East African Type |
|
Coxa vara, Metaphyseal spurs, Metaphyseal widening, Brachydactyly, Genu varum, Rounded epiphyses,... |
OMIM:611702 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
High palate, Overlapping toe, Narrow mouth, Wide anterior fontanel, Talipes equinovarus, Microgna... |
OMIM:201170 |
| Brachydactyly, Type A3 |
|
Rhomboid or triangular shaped 5th finger middle phalanx, Clinodactyly of the 5th finger, Cone-sha... |
OMIM:112700 |
| Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Arachnodactyly, Humeroradial synostosis, Occipital encephalocele, Oligodactyly |
OMIM:614416 |
| Metachondromatosis |
|
Multiple enchondromatosis, Bowing of the long bones |
OMIM:156250 |
| Beukes Hip Dysplasia |
|
Flat capital femoral epiphysis, Wide proximal femoral metaphysis, Shallow acetabular fossae, Broa... |
OMIM:142669 |
| Arthrogryposis, Distal, Type 1B |
|
Talipes equinovarus, Joint contracture of the hand, Camptodactyly, Distal arthrogryposis, Arthrog... |
OMIM:614335 |
| Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... |
ORPHA:1986 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Sensorineural hearing impairment, Clinodactyly of the 5th finger,... |
ORPHA:3320 |
| Brachydactyly, Type A1 |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle ... |
OMIM:112500 |
| Camptosynpolydactyly, Complex |
|
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly |
OMIM:607539 |
| Leri-Weill Dyschondrosteosis |
|
High palate, Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hy... |
OMIM:127300 |
| Winchester Syndrome |
|
Broad metacarpals, Kyphosis, Hirsutism, Corneal opacity, Carpal osteolysis, Arthropathy, Osteolys... |
OMIM:277950 |
| Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Short toe, Syndactyly |
OMIM:614341 |
| Thiemann Disease, Familial Form |
|
Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:3314 |
| Liebenberg Syndrome |
|
Radially deviated wrists, Metaphyseal widening, 2-3 finger syndactyly, Brachydactyly, Joint contr... |
OMIM:186550 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... |
ORPHA:988 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Cleft palate, Upper limb phocomelia, Abnormal hip bone morphology, Syndactyly, Polydactyly, Still... |
ORPHA:294975 |
| Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Tibial bowing, Hand oligodactyly, Short tibia, Abnormality of the hand, Syndactyly, Foot oligodac... |
OMIM:246570 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Cupped ear, Short hallux, ... |
OMIM:119100 |
| Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Conductive hearing impairment, Partial duplication of the distal phalanx of the hallux, Bifid uvu... |
ORPHA:2669 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
High palate, Cleft palate, Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th fin... |
OMIM:268305 |
| Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
| Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Flat capital femoral epiphysis, Talipes equinovarus, Brachydactyly, Hypopla... |
OMIM:226900 |
| Genitopatellar Syndrome |
|
Low-set ears, Talipes equinovarus, Micrognathia, Hypoplastic ilia, Long philtrum, Delayed eruptio... |
ORPHA:85201 |
| Sugarman Brachydactyly |
|
Brachydactyly, Proximal placement of hallux, Symphalangism affecting the proximal phalanges of th... |
OMIM:272150 |
| Digital Arthropathy-Brachydactyly, Familial |
|
Short distal phalanx of finger, Short distal phalanx of toe, Short middle phalanx of toe, Brachyt... |
OMIM:606835 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed tarsal ossification, Delayed o... |
OMIM:607078 |
| Polydactyly, Postaxial, Type A1 |
|
Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb |
OMIM:174200 |
| Camptodactyly Syndrome, Guadalajara, Type Ii |
|
Low-set ears, Talipes equinovarus, Micrognathia, Camptodactyly of finger, Long philtrum, Brachyda... |
OMIM:211920 |
| Brachydactyly, Type A1, C |
|
Short distal phalanx of finger, Bilateral talipes equinovarus, Brachydactyly, Short middle phalan... |
OMIM:615072 |
| Brachydactyly, Type A2, With Microcephaly |
|
Type A2 brachydactyly, Thumbs hypoplastic with bulbous tips, Absent middle phalanx of 2nd finger,... |
OMIM:211369 |
| Split-Hand/Foot Malformation 1 |
|
Ectrodactyly, Hand oligodactyly, Split foot, Syndactyly, Broad hallux, Triphalangeal thumb, Clino... |
OMIM:183600 |
| Meier-Gorlin Syndrome 1 |
|
High palate, Cleft palate, Absent glenoid fossa, Microdontia, Genu valgum, Hypoplasia of the maxi... |
OMIM:224690 |
| Brachydactyly, Type A4 |
|
Aplasia of the middle phalanges of the toes, Short middle phalanx of the 2nd finger, Type A brach... |
OMIM:112800 |
| Faciocardiomelic Dysplasia, Lethal |
|
Narrow mouth, Retrognathia, Micrognathia, Hypoplasia of the radius, Short 5th finger, Neonatal de... |
OMIM:227270 |
| Thiemann Disease |
|
Broad phalanx, Short phalanx of finger |
OMIM:165700 |
| Metaphyseal Anadysplasia 2 |
|
Bowing of the legs, Metaphyseal irregularity, Metaphyseal widening, Micromelia, Short femoral nec... |
OMIM:613073 |
| Familial Digital Arthropathy-Brachydactyly |
|
Short distal phalanx of finger, Shortening of all middle phalanges of the toes, Osteoarthritis of... |
ORPHA:85169 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Short distal phalanx of finger, Postaxial polydactyly, Adducted thumb, Overlapping fingers, Brach... |
OMIM:618167 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Metaphyseal sclerosis, Femoral bowing, Distal tibial bowing, Platyspondyly, Irregular acetabular ... |
OMIM:156500 |
| Tetrasomy X |
|
Clinodactyly of the 5th finger, Abnormality of the dentition, Brachydactyly, Radioulnar synostosi... |
ORPHA:9 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... |
ORPHA:166016 |
| Gombo Syndrome |
|
Radial deviation of finger, Brachydactyly, Clinodactyly, Delayed puberty |
OMIM:233270 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... |
ORPHA:85170 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Cleft palate, Abnormal hip bone morphology, Thin vermilion border, Overfolded helix, Camptodactyl... |
ORPHA:2631 |
| Hypochondroplasia |
|
Aplasia/hypoplasia of the extremities, Malar flattening, Flared metaphysis, Brachydactyly, Genu v... |
OMIM:146000 |
| Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Bilateral conductive hearing impairment, Short hallux, Oligodontia of pri... |
OMIM:216300 |
| Wahab Syndrome |
|
Adducted thumb, Syndactyly, Camptodactyly, Clinodactyly, Short foot, Short palm, Short metacarpal... |
OMIM:615170 |
| Nail-Patella Syndrome |
|
Cleft upper lip, Hypoplasia of first ribs, Antecubital pterygium, Clinodactyly of the 5th finger,... |
OMIM:161200 |
| Congenital Patella Dislocation |
|
Genu valgum, Knee flexion contracture, Limited knee extension, Patellar dislocation, Aplasia/Hypo... |
ORPHA:295036 |
| Acromesomelic Dysplasia, Grebe Type |
|
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... |
ORPHA:2098 |
| Scholte Syndrome |
|
Everted lower lip vermilion, Small hand, Acromicria, Short foot, Patellar hypoplasia |
OMIM:300977 |
| Mesomelic Limb Shortening And Bowing |
|
Bowing of the legs, Mesomelic leg shortening, Cleft palate, Retrognathia, Micrognathia, Camptodac... |
OMIM:249710 |
| Chromosome 2Q35 Duplication Syndrome |
|
2-3 toe syndactyly, Distal symphalangism of hands, Cutaneous syndactyly, 3-4 finger syndactyly, S... |
OMIM:185900 |
| Arthrogryposis, Distal, Type 2B2 |
|
Short toe, Narrow mouth, Talipes equinovarus, Adducted thumb, Talipes equinovalgus, Overlapping f... |
OMIM:618435 |
| Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Micrognathia, Patellar hypoplasia, Protruding ear, Macrotia |
OMIM:251240 |
| Tetramelic Monodactyly |
|
Split hand, Hand monodactyly, Foot monodactyly, Split foot |
OMIM:187510 |
| Mosaic Trisomy 8 |
|
High palate, Abnormal antihelix morphology, Abnormal pinna morphology, Clinodactyly of the 5th fi... |
ORPHA:96061 |
| Moderate Multiminicore Disease With Hand Involvement |
|
Intrinsic hand muscle atrophy, Distal upper limb muscle weakness, Talipes equinovarus, Knee dislo... |
ORPHA:178145 |
| Postaxial Oligodactyly, Tetramelic |
|
Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ... |
OMIM:176240 |
| Recombinant 8 Syndrome |
|
Cleft upper lip, Gingival overgrowth, Clinodactyly of the 5th finger, Deep plantar creases, Cleft... |
ORPHA:96167 |
| Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
| Microcephaly, Short Stature, And Limb Abnormalities |
|
Dislocated radial head, Clinodactyly of the 5th finger, Hypoplasia of the radius, Brachydactyly, ... |
OMIM:617604 |
| Orofaciodigital Syndrome Type 10 |
|
Mesomelic leg shortening, Short toe, Accessory oral frenulum, Hypoplasia of proximal radius, Prea... |
ORPHA:2756 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Thick eyebrow, Scoliosis, Radioulnar synostosis, Synophrys, Abnor... |
ORPHA:3268 |
| Isolated Split Hand-Split Foot Malformation |
|
Split hand, Absent hand, Oligodactyly, Finger syndactyly |
ORPHA:2440 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Low-set ears, Median cleft palate, Talipes equinovarus, Bilateral talipes equinovarus, Popliteal ... |
OMIM:119800 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the fibula, Brachydact... |
ORPHA:52056 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Abnormality of tibia morphology, Bowing of the long bones, Abnor... |
ORPHA:1802 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Hypoplasi... |
OMIM:601376 |
| Camptodactyly Syndrome, Guadalajara Type 2 |
|
Talipes equinovarus, Camptodactyly of finger, Short 3rd toe, Hip dislocation, Patellar hypoplasia... |
ORPHA:1326 |
| Eiken Syndrome |
|
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... |
ORPHA:79106 |
| Pelviscapular Dysplasia |
|
Mesomelic leg shortening, Abnormal pinna morphology, Low-set ears, Short femur, Stenosis of the e... |
ORPHA:93333 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
High palate, Triangular mouth, Cleft palate, Down-sloping shoulders, Ulnar deviation of finger, R... |
OMIM:265000 |
| Langer Mesomelic Dysplasia |
|
Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul... |
OMIM:249700 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Hypoplas... |
OMIM:617719 |
| Aase-Smith Syndrome |
|
Abnormal pinna morphology, Talipes equinovarus, Slender finger, Cleft palate, Abnormal hip bone m... |
ORPHA:916 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Spina bifida o... |
OMIM:102510 |
| Brachydactyly, Type D |
|
Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly |
OMIM:113200 |
| Nephrosis With Deafness And Urinary Tract And Digital Malformations |
|
Short distal phalanx of the thumb, Partial duplication of the distal phalanx of the hallux, Bifid... |
OMIM:256200 |
| Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... |
ORPHA:750 |
| Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, Cleft palate, 11 pairs of ribs, Rhizomelia, Clubbing, Multinuclea... |
OMIM:108720 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Metaphyseal dysplasia, Abnormality of the dentition, Genu varum, Short lower limbs, Carious teeth... |
ORPHA:2501 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Short tibia, Pseudoarthrosis |
OMIM:156230 |
| Ear-Patella-Short Stature Syndrome |
|
Cleft palate, Craniosynostosis, Anotia, Abnormal epiphysis morphology, Hypoplasia of the maxilla,... |
ORPHA:2554 |
| Meier-Gorlin Syndrome 2 |
|
Narrow mouth, Abnormal pinna morphology, Microtia, Micrognathia, Slender long bone, Camptodactyly... |
OMIM:613800 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... |
ORPHA:93356 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal cupping of proximal phalanges, Metaph... |
ORPHA:174 |
| Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
| Symbrachydactyly Of Hands And Feet |
|
Abnormality of the humeroulnar joint, Vertebral segmentation defect, Abnormal morphology of ulna,... |
ORPHA:1570 |
| Roberts Syndrome |
|
High palate, Cleft palate, Craniosynostosis, Hypoplasia of the radius, Abnormality of the upper l... |
ORPHA:3103 |
| Meier-Gorlin Syndrome 3 |
|
Coxa vara, Narrow mouth, Low-set ears, Talipes equinovarus, Microretrognathia, Short ribs, Microt... |
OMIM:613803 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Narrow mouth, Absent thumb, Short femur, Thin vermilion border, Short tibia, Hypoplasia of the ul... |
OMIM:612447 |
| Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Coxa vara, Metaphyseal irregularity, Short femoral neck, Genu varum, Hypoplasia of the odontoid p... |
OMIM:184255 |
| Ectrodactyly-Polydactyly Syndrome |
|
Ectrodactyly, Camptodactyly of finger, Brachydactyly, Symphalangism affecting the phalanges of th... |
ORPHA:1892 |
| Nail-Patella Syndrome |
|
Talipes calcaneovarus, Abnormality of femur morphology, Proximal finger joint hyperextensibility,... |
ORPHA:2614 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F |
|
Upper limb amyotrophy, Talipes equinovarus, Lower limb muscle weakness, Distal lower limb amyotrophy |
ORPHA:99940 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Sclerotic humeral metaphysis, Metaphyseal irregularity, Broad ischia, Narrow greater sciatic notc... |
OMIM:609052 |
| Epiphyseal Dysplasia, Multiple, 2 |
|
Epiphyseal dysplasia, Tooth agenesis, Irregular epiphyses, Flattened epiphysis, Genu varum, Osteo... |
OMIM:600204 |
| Symphalangism, Proximal, 1A |
|
Carpal synostosis, Stapes ankylosis, Conductive hearing impairment, Aplasia/Hypoplasia of the mid... |
OMIM:185800 |
| Tibial Hemimelia |
|
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... |
ORPHA:93322 |
| Multiple Synostoses Syndrome 1 |
|
Short sternum, Clinodactyly of the 4th toe, Short philtrum, Bilateral conductive hearing impairme... |
OMIM:186500 |
| Blount Disease |
|
Tibial bowing, Abnormal tibial metaphysis morphology, Abnormality of the proximal tibial epiphysi... |
ORPHA:2768 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Cleft palate, Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Pat... |
OMIM:274000 |
| Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Hip contracture, Talipes equinovarus, Nonprogressive muscular atrophy, Spinal muscular atrophy, D... |
OMIM:600175 |
| Atelosteogenesis, Type Ii |
|
Lacunar halos around chondrocytes, Talipes equinovarus, Cleft palate, Bifid humerus, Malar flatte... |
OMIM:256050 |
| Jawad Syndrome |
|
Thoracic scoliosis, Postaxial polydactyly, Single interphalangeal crease of fifth finger, Absent ... |
OMIM:251255 |
| Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 3-4 finger syndactyly, Dy... |
OMIM:174700 |
| Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
|
Delayed epiphyseal ossification, Proximal humeral metaphyseal irregularity, Coxa vara, Increased ... |
OMIM:183849 |
| Brachydactyly Type A7 |
|
Medially deviated second toe, Clinodactyly of the 5th finger, Short 2nd finger, 2-3 toe syndactyl... |
ORPHA:93397 |
| Polydactyly, Postaxial, Type A8 |
|
Genu valgum, Postaxial polydactyly |
OMIM:618123 |
| Heart-Hand Syndrome Type 2 |
|
Abnormal morphology of ulna, Hand polydactyly, Abnormality of the dentition, Abnormality of the h... |
ORPHA:1350 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, D... |
OMIM:605274 |
| Atelosteogenesis Type Ii |
|
Broad phalanx, Cleft palate, Micromelia, Rhizomelic arm shortening, Upper limb undergrowth, Dumbb... |
ORPHA:56304 |
| Meier-Gorlin Syndrome 6 |
|
Conductive hearing impairment, Microretrognathia, Cleft palate, Microtia, Stenosis of the externa... |
OMIM:616835 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Talipes equinovarus, Cleft palate, Micrognathia, Rocker bottom foot, Low-set ears |
OMIM:616570 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Narrow mouth, Short toe, Cleft palate, Coronal craniosynostosis, Micrognathia, Brachydactyly, Gen... |
OMIM:614078 |
| Bowen-Conradi Syndrome |
|
Clinodactyly of the 5th finger, Micrognathia, Camptodactyly of finger, Oral cleft, Death in infan... |
ORPHA:1270 |
| Charlie M Syndrome |
|
Narrow mouth, Tooth agenesis, Thin vermilion border, Micrognathia, Short philtrum, Brachydactyly,... |
ORPHA:1406 |
| Crossed Polysyndactyly |
|
Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Finger syndactyly |
ORPHA:2935 |
| Disorganization, Mouse, Homolog Of |
|
Cleft upper lip, Sensorineural hearing impairment, Cleft palate, Limb duplication, Hand polydacty... |
OMIM:223200 |
| Brachydactyly, Type A1, B |
|
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Broad distal ... |
OMIM:607004 |
| Palant Cleft Palate Syndrome |
|
Contracture of the proximal interphalangeal joint of the 5th finger, Contracture of the proximal ... |
OMIM:260150 |
| Arthrogryposis, Distal, Type 1C |
|
High palate, Metacarpophalangeal joint contracture, Narrow mouth, Clinodactyly of the 5th finger,... |
OMIM:619110 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Kyphoscoliosis, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous... |
OMIM:600384 |
| Legg-Calvé-Perthes Disease |
|
Abnormality of the dentition, Cartilage destruction, Joint dislocation |
ORPHA:2380 |
| Brachydactyly Type A4 |
|
Talipes equinovarus, Shortening of all middle phalanges of the toes, Short middle phalanx of the ... |
ORPHA:93394 |
| 17Q21.31 Microduplication Syndrome |
|
High palate, Clinodactyly of the 5th finger, Malar flattening, Abnormality of the dentition, Shor... |
ORPHA:217340 |
| Epiphyseal Dysplasia, Multiple, 6 |
|
Irregular vertebral endplates, Intervertebral disk calcification, Flat capital femoral epiphysis,... |
OMIM:614135 |
| Spastic Paraplegia 33, Autosomal Dominant |
|
Ankle clonus, Talipes equinovarus, Lower limb muscle weakness |
OMIM:610244 |
| Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Clinodactyly of the 5th finger, Cleft palate, Abnormal hip bone morphology, Arachnodactyly, Low-s... |
ORPHA:2725 |
| Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
High palate, Micrognathia, Death in infancy, Epiphyseal stippling |
OMIM:614882 |
| Acrocraniofacial Dysostosis |
|
Abnormal pinna morphology, Cleft palate, Craniosynostosis, Short 1st metacarpal, Short philtrum, ... |
ORPHA:949 |
| Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Abnormality of the ear, Cleft palate, Split foot, Malar flattening, Micrognathia, Split hand, Toe... |
OMIM:183700 |
| Brachydactyly, Type A2 |
|
Medially deviated second toe, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Triangular shap... |
OMIM:112600 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Temporomandibular joint ankylosis, Cleft palate, Micrognathia, Microglossia, Aplasia/Hypoplasia o... |
ORPHA:141152 |
| Split-Hand/Foot Malformation 4 |
|
Ectrodactyly, Aplasia/Hypoplasia of the phalanges of the toes, Split foot, Syndactyly, Triphalang... |
OMIM:605289 |
| Chromosome 2Q31.1 Duplication Syndrome |
|
Talipes equinovarus, Absent thumb, 3-4 finger cutaneous syndactyly, Triphalangeal thumb, Short thumb |
OMIM:613681 |
| Orofaciodigital Syndrome Vi |
|
High palate, Cleft upper lip, Accessory oral frenulum, Mesoaxial hand polydactyly, Cleft palate, ... |
OMIM:277170 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Cleft upper lip, Short femur, Amelia, Bilateral cleft lip and palate, Low-set ears, Foot oligodac... |
OMIM:601357 |
| Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Postaxial hand polydactyly, Brachydactyly, Short thumb, Short 2nd toe |
OMIM:176305 |
| Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Sensorineural hearing impairment, Cleft palate, Malar flattening, Glossoptosis, Micrognathia, Ost... |
ORPHA:166100 |
| Familial Clubfoot Due To 17Q23.1Q23.2 Microduplication |
|
Hip dysplasia, Talipes equinovarus |
ORPHA:238578 |
| Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Micrognathia, Radial club hand, Brachydactyly, Broad thumb, Abnormal palate morphology, Short met... |
ORPHA:1278 |
| Kyphomelic Dysplasia |
|
Cleft upper lip, Low-set ears, Tibial bowing, Radial bowing, Talipes equinovarus, Cleft palate, S... |
OMIM:211350 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Short distal phalanx of finger, Stapes ankylosis, Conductive hearing impairment, Congenital stape... |
OMIM:184460 |
| Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Autoamputation of digits, Talipes equinovarus, Congenital palmoplantar hyperkeratosis |
OMIM:620009 |
| Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Platyspondyly, Abnormality of the ankles, Abnormal ilium morphology, Abnormal vertebral morpholog... |
ORPHA:163665 |
| Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Short distal phalanx of finger, Camptodactyly of finger, Type B brachydactyly, Broad thumb |
ORPHA:1471 |
| Syndactyly, Type V |
|
Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... |
OMIM:186300 |
| Arthrogryposis, Distal, Type 7 |
|
Talipes equinovarus, Micrognathia, Cutaneous syndactyly of toes, Hammertoe, Deep philtrum, Metata... |
OMIM:158300 |
| Intellectual Developmental Disorder With Nasal Speech, Dysmorphic Facies, And Variable Skeletal Anomalies |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Tooth malposition, Micrognathia, Short 5th fi... |
OMIM:618608 |
| Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Narrow mouth, Talipes equinovarus, Cleft palate, Craniosynostosis, Micrognat... |
OMIM:251230 |
| Pierre Robin Syndrome |
|
Glossoptosis, Micrognathia, Pierre-Robin sequence, Cleft palate |
OMIM:261800 |
| Microphthalmia With Limb Anomalies |
|
High palate, Cleft palate, Macrodontia, Sandal gap, Hypoplasia of the maxilla, Bowing of the long... |
ORPHA:1106 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
High palate, Advanced ossification of carpal bones, Tooth agenesis, Microretrognathia, Knee dislo... |
OMIM:618363 |
| Brachydactyly Type A2 |
|
Type A2 brachydactyly, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle phalanx o... |
ORPHA:93396 |
| Ventriculomegaly And Arthrogryposis |
|
Ulnar deviation of the wrist, Talipes equinovarus, Hand clenching, Arthrogryposis multiplex conge... |
OMIM:619501 |
| Bowen-Conradi Syndrome |
|
Micrognathia, Abnormal joint morphology, Clinodactyly of the 5th finger, Rocker bottom foot |
OMIM:211180 |
| Orofaciodigital Syndrome Type 2 |
|
High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Complete duplicati... |
ORPHA:2751 |
| Multiple Synostoses Syndrome |
|
Cone-shaped epiphysis, Brachydactyly, Symphalangism affecting the phalanges of the hand, Bilatera... |
ORPHA:3237 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Narrow mouth, Clinodactyly of the 5th finger, Thin vermilion border, Brachydactyly, Low-set, post... |
ORPHA:2370 |
| Multiple Synostoses Syndrome 3 |
|
Cleft palate, Limited interphalangeal movement, Cutaneous syndactyly of toes, Metatarsal synostos... |
OMIM:612961 |
| Patella Aplasia-Hypoplasia |
|
Patellar hypoplasia, Patellar aplasia |
OMIM:168860 |
| Kuskokwim Syndrome |
|
Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of the patella, Talipes |
ORPHA:1149 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Cleft palate, Dysplasia of the femoral head, Glossoptosis, Short femur, Micrognathia, Aplasia/hyp... |
ORPHA:94068 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
High palate, Abnormal antihelix morphology, Short toe, 2-3 toe syndactyly, Protruding ear, Everte... |
ORPHA:3041 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Short distal phalanx of finger, Dental malocclusion, Abnormality of the dentition, Brachydactyly,... |
ORPHA:1858 |
| Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome |
|
Hammertoe, Hip dislocation, Hip dysplasia, Knee dislocation |
ORPHA:370943 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
High palate, Anal atresia, Tooth agenesis, Cryptorchidism, Micrognathia, Camptodactyly of finger,... |
ORPHA:2863 |
| Lethal Kniest-Like Dysplasia |
|
Low-set ears, Wide anterior fontanel, Hypoplastic vertebral bodies, Talipes equinovarus, Abnormal... |
ORPHA:2347 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Irregular vertebral endplates, Epiphyseal dysplasia, Delayed epiphyseal ossification, Irregular e... |
OMIM:132400 |
| Orofaciodigital Syndrome Ix |
|
High palate, Accessory oral frenulum, Cleft palate, Abnormality of the dentition, Short tibia, Ca... |
OMIM:258865 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Coxa vara, Stapes ankylosis, Clinodactyly of the 5th finger, Velopharyngeal insufficiency, 2-3 to... |
OMIM:614701 |
| Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Brachydactyly, Broad palm, Postaxial hand polydactyly, Mesomelia, Rhizomelia, Short foot, Short m... |
OMIM:611263 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Gingival overgrowth, Abnormality of the endocrine system, Cryptorchidism, Short fourth metatarsal... |
ORPHA:464288 |
| Emery-Nelson Syndrome |
|
High palate, Metacarpophalangeal joint contracture, Camptodactyly of finger, Brachydactyly, Long ... |
ORPHA:1927 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Finger synd... |
ORPHA:157801 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Abnormal antihelix morphology, Large earlobe, Accessory oral frenulum, Conductive hearing impairm... |
ORPHA:79113 |
| Split-Hand/Foot Malformation 2 |
|
Split foot, Short phalanx of finger, Split hand, Short metacarpal, Finger syndactyly |
OMIM:313350 |
| Brachydactyly, Combined B And E Types |
|
Short fifth metatarsal, Short fourth metatarsal, Broad distal phalanx of finger, Brachydactyly, S... |
OMIM:112440 |
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Radially deviated wrists, Coxa vara, Abnormality of the epiphyses of the feet, Abnormality of the... |
ORPHA:166002 |
| Periventricular Nodular Heterotopia 7 |
|
Micrognathia, Hearing impairment, 2-3 toe syndactyly, Cleft palate |
OMIM:617201 |
| Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Abnormality of the hand, Abnormality of the upper limb, Pes planu... |
ORPHA:521308 |
| Orofaciodigital Syndrome Xviii |
|
Short distal phalanx of finger, Accessory oral frenulum, Postaxial polydactyly, Preaxial polydact... |
OMIM:617927 |
| Craniosynostosis, Philadelphia Type |
|
Finger syndactyly, Craniosynostosis |
ORPHA:1527 |
| Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Camptodactyly of finger, Aplasia/Hypoplasia involving the skeletal musculature, Skeletal muscle a... |
ORPHA:2926 |
| Brachydactyly Type B |
|
Short distal phalanx of finger, Broad hallux phalanx, Synostosis of carpal bones, Type B brachyda... |
ORPHA:93383 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Brachydactyly, Bilateral single transverse palmar creases, Abnormality of the ankles, Cuboidal me... |
ORPHA:968 |
| Langer Mesomelic Dysplasia |
|
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short femoral neck, Me... |
ORPHA:2632 |
| Kniest Dysplasia |
|
Enlarged joints, Delayed epiphyseal ossification, Tibial bowing, Coxa vara, Conductive hearing im... |
OMIM:156550 |
| 2q37 monosomy |
|
Thin upper lip vermilion, Brachydactyly |
DECIPHER:44 |
| Rothmund-Thomson Syndrome Type 2 |
|
High palate, Cleft palate, Metaphyseal sclerosis, Abnormality of the dentition, Delayed eruption ... |
ORPHA:221016 |
| Auriculocondylar Syndrome 3 |
|
Glossoptosis, Micrognathia, Stenosis of the external auditory canal, Retrognathia, Bilateral cond... |
OMIM:615706 |
| Pallister-Hall-Like Syndrome |
|
Cleft palate, Hypothalamic hamartoma, Short ribs, Micrognathia, Micromelia, Anterior hypopituitar... |
OMIM:241800 |
| Atelosteogenesis Type I |
|
Malrotation of colon, Talipes equinovarus, Joint dislocation, Cleft palate, Short femur, Abnormal... |
ORPHA:1190 |
| Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Short greater sciatic notch, Coxa valga |
OMIM:271620 |
| Rhizomelic Syndrome, Urbach Type |
|
High palate, Short distal phalanx of finger, Abnormality of the tongue, Cleft palate, Micrognathi... |
ORPHA:3098 |
| Phenobarbital Embryopathy |
|
Malar flattening, Brachydactyly, Unilateral cleft lip, Mandibular prognathia, Aplasia/Hypoplasia ... |
ORPHA:1919 |
| Tetralogy Of Fallot |
|
Thin vermilion border, Cryptorchidism, Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:3303 |
| Penoscrotal Transposition |
|
Bilateral single transverse palmar creases, Micrognathia, Clinodactyly of the 5th finger, Patella... |
ORPHA:2842 |
| 17Q23.1Q23.2 Microdeletion Syndrome |
|
Narrow mouth, Clinodactyly of the 5th finger, Protruding ear, Malar flattening, Shallow acetabula... |
ORPHA:261279 |
| Carpenter Syndrome |
|
Kyphoscoliosis, Abnormal cornea morphology, Talipes equinovarus, Craniosynostosis, Brachydactyly,... |
ORPHA:65759 |
| Ulnar Hemimelia |
|
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... |
ORPHA:93320 |
| Mesomelia-Synostoses Syndrome |
|
Abnormality of femur morphology, Abnormality of the humerus, Micromelia, Abnormality of the ankle... |
ORPHA:2496 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
High palate, Short metacarpal, Cleft palate, Upper limb undergrowth, Arthralgia of the hip, Abnor... |
ORPHA:93307 |
| Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Wide mouth, Gingival overgrowth, Clinodactyly of the 5th finger, Micrognathia, Short philtrum, Br... |
OMIM:618381 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Bowing of the legs, Broad phalanx, Metaphyseal dysplasia, Metaphyseal widening, Flared metaphysis... |
ORPHA:2502 |
| Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Amyotrophy of ankle musculature, Intrinsic hand muscle atrophy, Distal upper limb muscle weakness... |
ORPHA:90103 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormal morphology of ulna, Abnormal metaphysis morphology, Abnormal hip bone morphology, Abnorm... |
ORPHA:1837 |
| Chromosome 20Q11-Q12 Deletion Syndrome |
|
Adducted thumb, Short philtrum, Brachydactyly, Finger clinodactyly, Camptodactyly, Tarsal osteova... |
OMIM:614257 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
High palate, Craniosynostosis, Hypoplasia of the radius, Overfolded helix, Hypoplasia of the ulna... |
OMIM:609945 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Enlarged joints, Delayed epiphyseal ossification, Spindle-shaped finger, Cutaneous syndactyly, Ge... |
ORPHA:166024 |
| Spondyloepimetaphyseal Dysplasia With Abnormal Dentition |
|
Metaphyseal irregularity, Widely-spaced incisors, Slender finger, Oligodontia, Flared metaphysis,... |
OMIM:601668 |
| Diastrophic Dysplasia |
|
Hypertrophic auricular cartilage, Talipes equinovarus, Cleft palate, Costal cartilage calcificati... |
OMIM:222600 |
| Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Cleft palate, Flared femoral metaphysis, Sandal gap, Abnormal joint morphology, ... |
ORPHA:1427 |
| Branchiogenic-Deafness Syndrome |
|
Short distal phalanx of finger, Sensorineural hearing impairment, Abnormality of the middle ear o... |
OMIM:609166 |
| 9Q33.3Q34.11 Microdeletion Syndrome |
|
Low-set ears, Narrow mouth, Fixed elbow flexion, Talipes equinovarus, Abnormal pinna morphology, ... |
ORPHA:495818 |
| Brachydactyly-Syndactyly, Zhao Type |
|
Short fifth metatarsal, Short middle phalanx of the 2nd finger, Symphalangism affecting the phala... |
ORPHA:93409 |
| Auriculoosteodysplasia |
|
Dislocated radial head, Hip dysplasia |
OMIM:109000 |
| Mucopolysaccharidosis, Type Ix |
|
Periarticular soft-tissue mass, Finger joint hypermobility, Popliteal synovial cyst, Chondrocalci... |
OMIM:601492 |
| Nevus Comedonicus Syndrome |
|
Preaxial polydactyly, Scoliosis, Spina bifida occulta, Cataract, Abnormal vertebral morphology, A... |
ORPHA:64754 |
| Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Abnormal dental enamel morphology, Conductive hearing impairment, Clinodactyly of the 5th finger,... |
ORPHA:3236 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Brachydactyly, Polydactyly |
OMIM:615983 |
| Brachydactyly, Type E2 |
|
Oligodontia, Brachydactyly, Delayed eruption of teeth, Short metatarsal, Short metacarpal |
OMIM:613382 |
| Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hypodontia, Short 1st metacarpal, Delayed eruption of teeth, Hip osteoarthritis, Short middle pha... |
ORPHA:63442 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Abnormal thumb morphology, Abnormal metacarpal morphology, Type A brachydactyly |
ORPHA:1078 |
| Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormality of the malleus, Abnormality of the middle ear ossicles, Abnormal pinna morphology, Co... |
OMIM:128980 |
| Bardet-Biedl Syndrome 12 |
|
Polydactyly |
OMIM:615989 |
| Terminal Osseous Dysplasia |
|
Mesomelic leg shortening, Short toe, Toe clinodactyly, Cleft palate, Malar flattening, Camptodact... |
OMIM:300244 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A... |
ORPHA:363417 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Delayed epiphyseal ossification, Coxa vara, Finger joint hypermobility, Avascular necrosis of the... |
ORPHA:93308 |
| Arthrogryposis, Distal, Type 1A |
|
Overlapping toe, Narrow mouth, Talipes equinovarus, Cryptorchidism, Joint contracture of the hand... |
OMIM:108120 |
| Acromesomelic Dysplasia 2B |
|
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... |
OMIM:228900 |
| Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay |
|
Type A1 brachydactyly |
OMIM:188201 |
| Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the hallux, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
| Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
| Brachydactyly Type B2 |
|
Short distal phalanx of finger, Short toe, Short distal phalanx of toe, Synostosis of carpal bone... |
ORPHA:140908 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Brac... |
ORPHA:2639 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
|
Cleft palate, Malar flattening, Small hand, Abnormal hand morphology, Short foot |
OMIM:300261 |
| Isolated Pierre Robin Syndrome |
|
Glossoptosis, Micrognathia, Cleft palate |
ORPHA:718 |
| Auriculocondylar Syndrome 2 |
|
Cleft at the superior portion of the pinna, Dental malocclusion, Narrow mouth, Abnormal pinna mor... |
OMIM:614669 |
| Pseudoachondroplasia |
|
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... |
OMIM:177170 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Anal atresia, Wide anterior fontanel, Abnormal pinna morphology, Cleft palate, Narrow greater sci... |
OMIM:617925 |
| Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Mandibular prognathia, Narrow palate, Brachydactyly |
OMIM:617169 |
| Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Pursed lips, Femoral bowing, Carious teeth, Ulnar deviation of finger, Contractu... |
OMIM:601559 |
| Brachydactyly Type C |
|
Clinodactyly of the 5th finger, Stippling of the epiphysis of the distal phalanx of the thumb, Ps... |
ORPHA:93384 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia |
OMIM:228250 |
| Femur-Fibula-Ulna Complex |
|
Abnormality of femur morphology, Abnormal morphology of ulna, Split hand, Short humerus, Micromel... |
ORPHA:2019 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Short distal phalanx of finger, Short toe, Aplasia/Hypoplasia of the distal phalanges of the toes... |
ORPHA:3201 |
| Hypochondroplasia |
|
Spinal canal stenosis, Abnormality of femur morphology, Short toe, Osteoarthritis, Micromelia, Br... |
ORPHA:429 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Cleft palate, Hip dysplasia, Aplasia/hypoplasia involving bones of the ex... |
ORPHA:1856 |
| Rothmund-Thomson Syndrome Type 1 |
|
Tooth agenesis, Short metacarpal, Metaphyseal sclerosis, Abnormality of the dentition, Plantar hy... |
ORPHA:221008 |
| Epiphyseal Dysplasia, Baumann Type |
|
Epiphyseal dysplasia, Metaphyseal irregularity, Clinodactyly of the 5th finger, Carpal bone aplas... |
OMIM:610797 |
| Li-Campeau Syndrome |
|
Low-set ears, Patellar hypoplasia, Long philtrum |
OMIM:619189 |
| Multiple Metaphyseal Dysplasia |
|
Short distal phalanx of finger, Abnormal hip bone morphology, Broad distal phalanx of finger, Bra... |
ORPHA:93430 |
| Summitt Syndrome |
|
Syndactyly, Craniosynostosis |
OMIM:272350 |
| Otopalatodigital Syndrome, Type I |
|
Cleft palate, Short 3rd metacarpal, Broad hallux, Sandal gap, Delayed closure of the anterior fon... |
OMIM:311300 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Abnormality of femur morphology, Cleft palate, Microtia, Micrognathia, Limb undergrowth, Abnormal... |
ORPHA:3429 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Beaking of vertebral bodies, Kyphosis, Brachydactyly, Scoliosis, Abnormal form of the vertebral b... |
ORPHA:40 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Syndactyly, 2-4 toe syndactyly |
OMIM:241000 |
| Feingold Syndrome Type 2 |
|
Brachydactyly, Short middle phalanx of finger, Jejunal atresia, Short thumb, Toe syndactyly |
ORPHA:391646 |
| Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... |
ORPHA:3344 |
| Short Rib-Polydactyly Syndrome |
|
Cleft palate, Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, Aceta... |
ORPHA:1505 |
| Weyers Acrofacial Dysostosis |
|
Clinodactyly of the 5th finger, Brachydactyly, Postaxial hand polydactyly, Conical tooth, Solitar... |
OMIM:193530 |
| Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly |
|
Partial duplication of eyebrows, Long eyelashes, 2-4 finger syndactyly, 2-3 toe syndactyly |
OMIM:227210 |
| Brachydactyly, Type B1 |
|
Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Hemivertebrae,... |
OMIM:113000 |
| Exostoses With Anetodermia And Brachydactyly, Type E |
|
Type E brachydactyly |
OMIM:133690 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Sensorineural hearing impairment, Abnormal pinna morphology, Talipes equinovarus, Short ribs, Hyp... |
OMIM:607143 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Decreased fibular diameter, Large fleshy ears, Cleft palate, Short femur, Short ribs, Micrognathi... |
OMIM:616897 |
| Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Talipes equinovarus, Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Triangular tongue... |
OMIM:616827 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
| Temple Syndrome |
|
High palate, Cleft palate, Small hand, Micrognathia, Short philtrum, Bifid uvula, Clinodactyly, S... |
OMIM:616222 |
| Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Split hand, Hand monodactyly, Split foot |
OMIM:183800 |
| 20Q11.2 Microdeletion Syndrome |
|
Adducted thumb, Short philtrum, Brachydactyly, Finger clinodactyly, Camptodactyly, Talipes calcan... |
ORPHA:444051 |
| Peripheral Dysostosis |
|
Hip osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand, Short phalanx of finger |
OMIM:170700 |
| Sprengel Deformity |
|
Torticollis, Shoulder muscle hypoplasia, Abnormality of the shoulder girdle musculature |
ORPHA:3181 |
| Achondroplasia |
|
Bowing of the legs, Malar flattening, Flared metaphysis, Trident hand, Brachydactyly, Short femor... |
OMIM:100800 |
| Gordon Syndrome |
|
High palate, Clinodactyly of the 5th finger, Cleft palate, Camptodactyly of finger, Cryptorchidis... |
ORPHA:376 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Dental malocclusion, Tibial bowing, Metaphyseal irregularity, Metaphyseal cupping, Coxa vara, Nar... |
OMIM:608940 |
| Stickler Syndrome, Type Ii |
|
Sensorineural hearing impairment, High, narrow palate, Cleft palate, Malar flattening, Arachnodac... |
OMIM:604841 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Short metatarsal, Supernumerary tooth, Cone-shaped epiphyses of the middle phalanges of the hand,... |
OMIM:190351 |
| Brachydactyly-Distal Symphalangism Syndrome |
|
Distal symphalangism of hands, Short 1st metacarpal, Chess-pawn distal phalanges, Aplasia of the ... |
OMIM:113450 |
| Craniosynostosis 3 |
|
Dental malocclusion, Brachydactyly, Single transverse palmar crease, Sagittal craniosynostosis, H... |
OMIM:615314 |
| Hypertension And Brachydactyly Syndrome |
|
Cone-shaped epiphysis, Brachydactyly, Short phalanx of finger, Short metacarpal |
OMIM:112410 |
| Osteoarthritis With Mild Chondrodysplasia |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Platyspondyly, Hip osteoarthritis, He... |
OMIM:604864 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Abnormality of finger, Large iliac wing, Malar flattening, Delayed cranial suture closure, Cone-s... |
ORPHA:2511 |
| Arthrogryposis, Distal, Type 11 |
|
Limited pronation/supination of forearm, Talipes equinovarus, Camptodactyly, Metatarsus adductus,... |
OMIM:620019 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Wide mouth, Micrognathia, Short philtrum, Metaphyseal cupping of metacarpals, Abnormality of the ... |
ORPHA:163966 |
| Atelosteogenesis, Type Iii |
|
Tibial bowing, Radial bowing, Talipes equinovarus, Knee dislocation, Horizontal sacrum, Tombstone... |
OMIM:108721 |
| Acheiropodia |
|
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... |
ORPHA:931 |
| Triphalangeal Thumbs With Brachyectrodactyly |
|
Short 2nd finger, Split foot, Brachydactyly, Triphalangeal thumb, Short 3rd toe, Split hand |
OMIM:190680 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Small pituitary gland, Cleft palate, Genu valgum, Decreased testicular size, Cryptorchidism |
OMIM:614880 |
| Thanatophoric Dysplasia Type 1 |
|
Wide anterior fontanel, Short femur, Femoral bowing, Hypoplastic ilia, Micromelia, Brachydactyly,... |
ORPHA:1860 |
| Metaphyseal Chondrodysplasia, Kaitila Type |
|
Enlarged joints, Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Sh... |
OMIM:250230 |
| Heart-Hand Syndrome, Slovenian Type |
|
Brachydactyly, Aplasia of the middle phalanx of the hand, Syndactyly, Clinodactyly |
OMIM:610140 |
| Charcot-Marie-Tooth Disease, Type 4H |
|
Talipes equinovarus, Small thenar eminence, Pes cavus, Small hypothenar eminence, Distal lower li... |
OMIM:609311 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Carpal synostosis, Cleft palate, Diastema, Microdontia, Brachydactyly, Radioulnar synostosis, Syn... |
OMIM:605282 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Abnormal morphology of ulna, Split foot, Abnormality of the ankles, Aplasia/Hy... |
ORPHA:1307 |
| Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Hypoplasia of the ulna, Short finger, Syndactyly, Split foot |
OMIM:314360 |
| Chromosome 15Q13.3 Deletion Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly |
OMIM:612001 |
| Ivic Syndrome |
|
Anal atresia, Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement,... |
OMIM:147750 |
| Acrorenal Syndrome |
|
Abnormal morphology of ulna, Cleft palate, Micrognathia, Abnormality of tibia morphology, Aplasia... |
ORPHA:971 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia |
OMIM:188740 |
| Developmental Dysplasia Of The Hip 2 |
|
Coxa valga, Hip dysplasia |
OMIM:615612 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Talipes equinovarus, Joint contracture of the hand, Spinal muscular atrophy, Distal amyotrophy, S... |
OMIM:611067 |
| Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease |
|
Cleft upper lip, Abnormality of the tongue, Malar flattening, Intestinal malrotation, Partial dup... |
OMIM:601165 |
| Arthrogryposis, Distal, Type 2B1 |
|
High palate, Narrow mouth, Talipes equinovarus, Micrognathia, Camptodactyly of finger, Long philt... |
OMIM:601680 |
| Deafness, Congenital, With Onychodystrophy, Autosomal Dominant |
|
Brachydactyly, Triphalangeal thumb, Conical tooth, Bilateral triphalangeal thumbs, Absent middle ... |
OMIM:124480 |
| Mohr Syndrome |
|
High palate, Cleft palate, Lobulated tongue, Tongue nodules, Hypoplasia of the maxilla, Partial d... |
OMIM:252100 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Brachydactyly, Micromelia, Ulnar deviation of finger, Furrowed tongue, A... |
ORPHA:2928 |
| Acromicric Dysplasia |
|
Abnormality of femur morphology, Narrow mouth, Fifth metacarpal with ulnar notch, Small hand, Lon... |
ORPHA:969 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Short distal phalanx of finger, Dental malocclusion, Short distal phalanx of toe, Short 1st metac... |
OMIM:601957 |
| Rubinstein-Taybi Syndrome 2 |
|
High palate, Dental malocclusion, Posterior helix pit, Narrow palate, Intestinal malrotation, Mic... |
OMIM:613684 |
| Cenani-Lenz Syndrome |
|
Hypoplasia of the radius, Synostosis of carpal bones, Micromelia, Short thumb, Radioulnar synosto... |
ORPHA:3258 |
| Craniosynostosis And Dental Anomalies |
|
High palate, Delayed eruption of teeth, Broad hallux, Sagittal craniosynostosis, Hypoplasia of th... |
OMIM:614188 |
| Lethal Congenital Contracture Syndrome 1 |
|
Hypoplasia of the musculature, Skeletal muscle atrophy, Arthrogryposis multiplex congenita |
OMIM:253310 |
| Zimmermann-Laband Syndrome 3 |
|
High palate, Short distal phalanx of finger, Gingival overgrowth, Long hallux, Absent distal phal... |
OMIM:618658 |
| Aminopterin Syndrome Sine Aminopterin |
|
High palate, Joint contracture of the hand, Cleft palate, Arachnodactyly, Micrognathia, Oligodont... |
OMIM:600325 |
| Whistling Face Syndrome, Recessive Form |
|
High palate, Narrow mouth, Talipes equinovarus, Malar flattening, Micrognathia, Long philtrum, Ul... |
OMIM:277720 |
| Distal Myopathy, Tateyama Type |
|
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Increased variability in muscle fibe... |
ORPHA:488650 |
| Proximal Symphalangism |
|
Clinodactyly of the 5th finger, Elbow ankylosis, Camptodactyly of finger, Brachydactyly, Synostos... |
ORPHA:3250 |
| Atelosteogenesis Type Iii |
|
High palate, Talipes equinovarus, Hand clenching, Absent humerus, Knee dislocation, Micrognathia,... |
ORPHA:56305 |
| Ulnar/Fibular Ray Defect And Brachydactyly |
|
Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Lower limb asymmetry, Unila... |
OMIM:608571 |
| Paget Disease Of Bone 2, Early-Onset |
|
Premature loss of teeth, Short femur, Femoral bowing, Fractures of the long bones, Bilateral cond... |
OMIM:602080 |
| Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Coxa vara, Abnormal ossification involving the ... |
ORPHA:2114 |
| Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Type E brachydactyly |
ORPHA:1962 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short distal phalanx of finger, Cervical C2/C3 vertebral fusion, Short distal phalanx of the thum... |
ORPHA:370010 |
| Fetal Akinesia Deformation Sequence 4 |
|
High palate, Retrognathia, Micrognathia, Camptodactyly, Rocker bottom foot, Low-set ears, Posteri... |
OMIM:618393 |
| Anauxetic Dysplasia 2 |
|
Coxa vara, Metaphyseal dysplasia, Hypoplastic iliac body, Hypodontia, Macroglossia, Hypoplasia of... |
OMIM:617396 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Cleft palate, Club-shaped prox... |
OMIM:184250 |
| Keipert Syndrome |
|
Thick upper lip vermilion, Broad distal phalanx of finger, Brachydactyly, Downturned corners of m... |
OMIM:301026 |
| Bardet-Biedl Syndrome 4 |
|
Abnormality of the dentition, Syndactyly, Brachydactyly, Polydactyly, Hypogonadism, Cryptorchidism |
OMIM:615982 |
| Spastic Paraplegia 64, Autosomal Recessive |
|
Skeletal muscle atrophy, Talipes equinovarus |
OMIM:615683 |
| Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
Sparse scalp hair, Joint contracture of the hand, Sparse eyebrow, Sparse eyelashes, Syndactyly, C... |
OMIM:225280 |
| Acropectoral Syndrome |
|
Preaxial polydactyly, Partial duplication of thumb phalanx, Triphalangeal thumb |
OMIM:605967 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Brachydactyly, Peters anomaly, Iris coloboma, Clinodactyly, Ocular anterior segment d... |
OMIM:610023 |
| Metaphyseal Acroscyphodysplasia |
|
Cone-shaped metacarpal epiphyses, Abnormality of femur morphology, Short toe, Joint dislocation, ... |
ORPHA:1240 |
| Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
High palate, Clinodactyly of the 5th finger, Cleft palate, Abnormality of the dentition, Microgna... |
ORPHA:576283 |
| Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... |
OMIM:619217 |
| Metaphyseal Acroscyphodysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Platyspondyly, Micromelia, ... |
OMIM:250215 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
High palate, Dislocated radial head, Talipes equinovarus, Long upper lip, Cleft palate, Micrognat... |
ORPHA:93359 |
| Acheiropody |
|
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... |
OMIM:200500 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal palate morphology, Low-set, posteriorly rotated ears, Slender long bone, Abnormal pelvic... |
ORPHA:1506 |
| Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Aplasia of the proximal phalanx of the 2nd finger, Short toe, Talipes equinova... |
OMIM:609441 |
| Abruzzo-Erickson Syndrome |
|
Short toe, Cleft palate, Malar flattening, Brachydactyly, Radioulnar synostosis, Ulnar deviation ... |
ORPHA:921 |
| Coloboma Of Macula With Type B Brachydactyly |
|
Broad distal phalanx of the thumb, Bifid distal phalanx of the thumb, Type B brachydactyly, Absen... |
OMIM:120400 |
| Desbuquois Dysplasia 1 |
|
Radial deviation of the 2nd finger, Short 1st metacarpal, Monkey wrench femoral neck, Phalangeal ... |
OMIM:251450 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
Ectopic anus, Wide mouth, Sensorineural hearing impairment, Conductive hearing impairment, Abnorm... |
ORPHA:2549 |
| Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Talipes equinovarus, Lower limb amyotrophy, Knee flexion contracture, Upper limb amyotrophy, Prox... |
ORPHA:496689 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular muscle atrophy, Peroneal muscle weakness, Torticollis, Amyoplasia, Talipes equinovarus, ... |
OMIM:181405 |
| Odontochondrodysplasia 1 |
|
Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal cupping, Dentinogenesis imperfect... |
OMIM:184260 |
| Baller-Gerold Syndrome |
|
High palate, Anal atresia, Malabsorption, Narrow mouth, Conductive hearing impairment, Cleft pala... |
ORPHA:1225 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Death in infancy, Epiphyseal stippling |
OMIM:614876 |
| Temtamy Syndrome |
|
Short toe, Clinodactyly of the 5th finger, Micrognathia, Brachydactyly, Genu varum, Pes planus, A... |
ORPHA:1777 |
| Cranioectodermal Dysplasia |
|
Short distal phalanx of finger, Taurodontia, Clinodactyly of the 5th finger, Hypodontia, Finger s... |
ORPHA:1515 |
| Acrootoocular Syndrome |
|
Dental malocclusion, Anodontia, Short toe, Supernumerary tooth, High, narrow palate, Decreased re... |
ORPHA:2980 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Flattened femoral head, Coxa vara, Abnormality of the hand, Broad femoral neck, Short femoral nec... |
ORPHA:99642 |
| Microphthalmia With Limb Anomalies |
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High palate, Cleft upper lip, Tibial bowing, Talipes equinovarus, Cleft palate, Hand oligodactyly... |
OMIM:206920 |
| Arthrogryposis Multiplex Congenita-Whistling Face Syndrome |
|
Narrow mouth, Adducted thumb, Thin vermilion border, Micrognathia, Low-set, posteriorly rotated e... |
ORPHA:1150 |
| Aphalangy-Syndactyly-Microcephaly Syndrome |
|
Short distal phalanx of finger, Split foot, Camptodactyly of finger, Symphalangism affecting the ... |
ORPHA:1113 |
| Acromesomelic Dysplasia 1 |
|
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Thoracolumbar interpediculate ... |
OMIM:602875 |
| Smith-Magenis Syndrome |
|
Velopharyngeal insufficiency, Malar flattening, Abnormality of the dentition, Brachydactyly, Oral... |
OMIM:182290 |
| Synpolydactyly 2 |
|
Carpal synostosis, Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, ... |
OMIM:608180 |
| Metatropic Dysplasia |
|
Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Hyperplasia of the femoral trochan... |
OMIM:156530 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Talipes equinovarus, Proximal muscle weakness in lower limbs, Pes cavus, Hyporef... |
OMIM:615290 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cleft palate, Femoral bowing, Cone-shaped epiphysis, Short digit, Hypoplasia of the ulna, Short l... |
OMIM:613091 |
| Trichothiodystrophy 9, Nonphotosensitive |
|
Dental malocclusion, Brachydactyly, High, narrow palate |
OMIM:619692 |
| Brachyolmia Type 1, Hobaek Type |
|
Sclerotic foci of metaphyses of the elbow, Short femoral neck, Flattened proximal radial epiphyse... |
OMIM:271530 |
| Orofaciodigital Syndrome X |
|
Hand oligodactyly, Cleft palate, Retrognathia, Coalescence of tarsal bones, Fibular aplasia, Prea... |
OMIM:165590 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Bowing of the legs, Lumbar hyperlordosis, Metaphyseal spurs, Dysplastic iliac wing, Narrow greate... |
OMIM:608728 |
| Brachydactyly-Arterial Hypertension Syndrome |
|
Brachydactyly, Short phalanx of finger, Short metacarpal |
ORPHA:1276 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Finger syndactyly, Camptodactyly of ... |
ORPHA:2633 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Flattened femoral head, Coxa vara, Metaphyseal spurs, Flat capital femoral epiphysis, Osteoarthri... |
ORPHA:166011 |
| Frontometaphyseal Dysplasia 1 |
|
Craniosynostosis, Increased density of long bone diaphyses, Long foot, Genu valgum, Partial fusio... |
OMIM:305620 |
| Cleidocranial Dysplasia |
|
Cleft palate, Abnormality of the dentition, Down-sloping shoulders, Delayed eruption of teeth, Ta... |
ORPHA:1452 |
| Acromicric Dysplasia |
|
Fifth metacarpal with ulnar notch, Short metacarpal, Cone-shaped epiphysis, Short phalanx of fing... |
OMIM:102370 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Narrow mouth, Clinodactyly of th... |
OMIM:300990 |
| Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism |
|
Cleft upper lip, Joint contracture of the hand, Cleft palate, Overlapping fingers, Micromelia, An... |
OMIM:601016 |
| Dyschondrosteosis And Nephritis |
|
Radial bowing, Short tibia, Madelung deformity, Ulnar bowing, Short forearm |
OMIM:127350 |
| Conductive Deafness-Malformed External Ear Syndrome |
|
High palate, Conductive hearing impairment, Abnormal pinna morphology, Sensorineural hearing impa... |
ORPHA:3216 |
| Split-Foot Malformation With Mesoaxial Polydactyly |
|
