Ectrodactyly-polydactyly syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal
- Status
- historical
Ectrodactyly-polydactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ectrodactyly-polydactyly syndrome | |
| fr | Syndrome d'ectrodactylie-polydactylie | |
| de | Ektrodaktylie-Polydaktylie-Syndrom | |
| es | Síndrome de ectrodactilia-polidactilia | |
| it | Sindrome ectrodattilia-polidattilia | |
| nl | Ectrodactylie - polydactylie-syndroom | |
| pt | Síndrome de ectrodactilia-polidactilia | |
| pl | Ektrodaktylia - polidaktylia | |
| cs | Syndrom zahrnující ektrodaktylii a polydaktylii | |
| uk | Синдром ектродактилії-полідактилії | |
| zh | 缺指（趾）-多指（趾）综合征 | |
| tr | Ektrodaktili-polidaktili sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 225290 | E | validated | |
| ICD-10 | Q69.9 | NTBT | attributed | validated |
| ICD-10 | Q73.8 | NTBT | attributed | validated |
| MONDO | 0009156 | E | validated | |
| UMLS | C4749762 | E | validated | |
| GARD | 2068 | 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:498477Ectrodactyly with and without other manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:294959Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone 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 | 1 families | Worldwide | Family(ies) | Validated | 7151304[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7151304[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
7 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100257 | Ectrodactyly | |
| HP:0001162 | Postaxial hand polydactyly | |
| Frequent (79-30%) | ||
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0001156 | Brachydactyly | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0006101 | Finger syndactyly | |
| HP:0009773 | Symphalangism affecting the phalanges of the hand | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1892
- This record as JSON: /data/d/1892.json