Congenital amyoplasia
Synonyms: Amyoplasia congenita
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Status
- active
A rare sporadic arthrogryposis syndrome characterized by multiple congenital contractures presenting in a very specific pattern. It is typically symmetric, involving all four limbs, with internally rotated shoulders, fully extended and fixed elbows, the wrists fixed in flexion, partially flexed fingers, hips fixed in flexion or extension, adducted or abducted, and sometimes dislocated. The knees may be fixed in extension or flexion, and the feet are usually in severe equinovarus position. The jaw and trunk are relatively spared. Normal limb muscle tissue is replaced by fatty, fibrous tissue.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital amyoplasia | Amyoplasia congenita |
| fr | Amyoplasie congénitale | |
| de | Amyoplasie, kongenitale | = en |
| es | Amioplasia congénita | |
| it | Amioplasia congenita | |
| nl | Congenitale amyoplasie | = en |
| pt | Amioplasia congénita | |
| pl | Amioplazja wrodzona | Wrodzona amioplazja |
| cs | Vrozená amyoplázie | = en |
| uk | Вроджена аміоплазія | Вроджена аміоплазія |
| zh | 先天性肌肉发育不良 | 先天性肌肉发育不全 |
| tr | Doğumsal amilazi | Doğumsal amyoplasia |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q68.8 | NTBT | attributed | validated |
| ICD-11 | LD26.41 | E | specific | validated |
| MONDO | 0044629 | E | validated | |
| UMLS | C0812412 | 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 (1):
- ORPHA:109007Arthrogryposis syndrome
rare developmental anomalies during embryogenesis
No children.
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/488586
- This record as JSON: /data/d/488586.json