Arthrogryposis-severe scoliosis syndrome
Synonyms: Distal arthrogryposis type 4 · Distal arthrogryposis type IID
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare distal arthrogryposis characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and a mild to severe scoliosis. Intelligence is normal.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Arthrogryposis-severe scoliosis syndrome | Distal arthrogryposis type 4 · Distal arthrogryposis type IID |
| fr | Syndrome d'arthrogrypose-scoliose sévère | Arthrogrypose distale type 4 · Arthrogrypose distale type IID |
| de | Arthrogrypose-schwere Skoliose-Syndrom | Arthrogrypose, distale, Typ 2D · Arthrogrypose, distale, Typ 4 · Arthrogrypose, distale, Typ IID |
| es | Síndrome de artrogriposis-escoliosis grave | Artrogriposis distal tipo 4 · Artrogriposis distal tipo IID |
| it | Artrogriposi - scoliosi grave | Artrogriposi distale, tipo 4 · Artrogriposi distale, tipo IID |
| nl | Artrogrypose - ernstige scoliose-syndroom | Distale artrogrypose type 4 · Distale artrogrypose type IID |
| pt | Síndrome de artrogripose-escoliose grave | Artrogripose distal tipo 4 · Artrogripose distal tipo IID |
| pl | Artrogrypoza - ciężka skolioza | Artrogrypoza dystalna typu 4 · Artrogrypoza dystalna typu IID |
| cs | Syndrom zahrnující artrogrypózu a těžkou skoliózu | Distální artrogrypóza, typ 4 · Distální artrogrypóza, typ IID |
| uk | Синдром артрогрипозу-важкого сколіозу | Дистальний артрогрипоз, тип 4 · Дистальний артрогрипоз типу IID |
| zh | 关节挛缩-重度脊髓侧凸综合征 | 远端关节挛缩IID型 |
| tr | Artrogripozis-ağır skolyoz sendromu | Distal artrogripozis tip 4 · Distal artrogripozis tip IID |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609128 | E | validated | |
| ICD-10 | Q68.8 | NTBT | attributed | validated |
| ICD-11 | LD26.4Y | NTBT | index | validated |
| MONDO | 0012195 | E | validated | |
| MeSH | C563791 | E | validated | |
| UMLS | C1836756 | 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:97120Distal arthrogryposis
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 families | Worldwide | Family(ies) | Validated | 3565478[PMID]_7039311[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3565478[PMID]_7039311[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/65720
- This record as JSON: /data/d/65720.json