Antecubital pterygium syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, dermis disorder characterized by bilateral, fairly symmetrical, antecubital webbing extending from distal third of humerus to proximal third of forearm, associated with musculoskeletal abnormalities (i.e. absent long head of triceps, bilateral posterior dislocation of the radial head and hypoplasia of the olecranon processes) and absent skin creases over the terminal interphalangeal joints of fingers, clinically manifesting with moderate to severe elbow extension and supination limitation.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Antecubital pterygium syndrome | |
| fr | Syndrome du ptérygium antécubital | |
| de | Pterygium-Syndrom, antekubitales | |
| es | Síndrome de pterigium antecubital | |
| it | Sindrome da pterigio dei gomiti | |
| nl | Antecubitaal pterygium-syndroom | |
| pt | Síndrome pterígio antecubital | |
| pl | Zespół płetwistości łokciowych | |
| cs | Syndrom antekubitálních pterygií | |
| uk | Синдром антекубітального птеригіуму | |
| zh | 肘前翼状胬肉综合征 | |
| tr | Antekubital piterjiyum sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 178200 | E | validated | |
| ICD-10 | Q87.2 | NTBT | attributed | validated |
| ICD-11 | LD26.Y | NTBT | attributed | validated |
| MONDO | 0008339 | E | validated | |
| MeSH | C566738 | E | validated | |
| UMLS | C1867439 | E | validated | |
| GARD | 4570 | 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:79381Other dermis disorder
rare skin diseases - ORPHA:477808Other genetic dermis disorder
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 | 11 cases | Worldwide | Case(s) | Validated | 3409540[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3409540[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/2987
- This record as JSON: /data/d/2987.json