Distal arthrogryposis
- Type
- Clinical group
- Group
- Group of disorders
- Status
- active
A group of rare arthrogryposis syndromes characterized by congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal arthrogryposis | |
| fr | Arthrogrypose distale | |
| de | Arthrogrypose, distale | |
| es | Artrogriposis distal | |
| it | Artrogriposi distale | |
| nl | Distale artrogrypose | |
| pt | Artrogripose distal | |
| pl | Artrogrypoza dystalna | |
| cs | Distální artrogrypózy | |
| uk | Дистальний артрогрипоз | |
| zh | 远端关节挛缩 | |
| tr | Distal artrogripozis |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 108120 | BTNT | validated | |
| OMIM | 108145 | BTNT | validated | |
| OMIM | 615065 | BTNT | validated | |
| OMIM | 618435 | BTNT | validated | |
| OMIM | 618436 | BTNT | validated | |
| OMIM | 619110 | BTNT | validated | |
| OMIM | 620019 | BTNT | validated | |
| MONDO | 0019942 | E | validated | |
| UMLS | C0265213 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:109007Arthrogryposis syndrome
rare developmental anomalies during embryogenesis - ORPHA:723416Genetic arthrogryposis syndrome
rare genetic diseases
Children (18):
- ORPHA:3200Arthrogryposis-ectodermal dysplasia syndrome
- ORPHA:1144Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
- ORPHA:1154Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
- ORPHA:65720Arthrogryposis-severe scoliosis syndrome
- ORPHA:370943Autism spectrum disorder-epilepsy-arthrogryposis syndrome
- ORPHA:65743Autosomal dominant multiple pterygium syndrome
- ORPHA:115Congenital contractural arachnodactyly
- ORPHA:562528Congenital limbs-face contractures-hypotonia-developmental delay syndrome
- ORPHA:1146Distal arthrogryposis type 1
- ORPHA:251515Distal arthrogryposis type 10
- ORPHA:329457Distal arthrogryposis type 5D
- ORPHA:707937Distal arthrogryposis-progressive scoliosis-thumb deformity-impaired proprioception syndrome
- ORPHA:2053Freeman-Sheldon syndrome
- ORPHA:376Gordon syndrome
- ORPHA:2953Musculocontractural Ehlers-Danlos syndrome
- ORPHA:2840Pelvic dysplasia-arthrogryposis of lower limbs syndrome
- ORPHA:1147Sheldon-Hall syndrome
- ORPHA:3377Trismus-pseudocamptodactyly syndrome
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/97120
- This record as JSON: /data/d/97120.json