Distal arthrogryposis type 10
Synonyms: Short Achilles tendon · Short tendo calcaneus · DA10 · Plantar flexion contracture
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, distal arthrogryposis syndrome characterized by plantar flexion contractures, typically presenting with toe-walking in infancy, variably associated with milder contractures of the hip, elbow, wrist and finger joints. No ocular or neurological abnormalities are associated and serum creatine phosphokinase levels are normal.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal arthrogryposis type 10 | Short Achilles tendon · Short tendo calcaneus · DA10 · Plantar flexion contracture |
| fr | Arthrogrypose distale type 10 | Contracture congénitale du tendon calcanéen · Contracture congénitale du tendon d'Achille · DA10 |
| de | Arthrogrypose, distale, Typ 10 | Achillessehne, verkürzte · DA10 · Plantarflexionkontraktur |
| es | Artrogriposis distal tipo 10 | Contractura en flexión plantar · DA10 · Tendón calcáneo corto |
| it | Artrogriposi distale tipo 10 | Contrattura in flessione plantare · DA10 · Tendine calcaneale corto |
| nl | Distale artrogrypose type 10 | DA10 · Korte tendo calcaneus · Plantaire flexie-contractuur |
| pt | Artrogripose distal tipo 10 | Contratura da flexão plantar · DA10 · Tendão calcâneo curto |
| pl | Artrogrypoza dystalna typu 10 | DA10 · Krótkie ścięgno Achillesa · Podeszwowy przykurcz |
| cs | Distální artrogrypóza, typ 10 | DA10 · Kontraktura plantární flexe · Zkrácení Achillovy šlachy · Zkrácení tendo calcaneus |
| uk | Дистальний артрогрипоз, тип 10 | DA10 · Підошовна згинальна контрактура · Коротке ахіллове сухожилля · Коротке сухожилля пяткової кістки |
| zh | 远端关节挛缩症10型 | 足底屈曲挛缩 |
| tr | Distal artrogripozis tip 10 | DA10 · Kısa Aşil tendonu · Kısa tendo kalkaneus · Plantar fleksiyon kontraktürü |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 187370 | NTBT | validated | |
| ICD-10 | Q68.8 | NTBT | attributed | validated |
| MONDO | 0016675 | E | validated | |
| MeSH | C566069 | E | validated | |
| UMLS | C1861238 | 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 | 53 cases | Worldwide | Case(s) | Validated | 17103435[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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/251515
- This record as JSON: /data/d/251515.json