Syndactyly-polydactyly-ear lobe syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- historical
A rare, genetic, congenital limb malformation syndrome characterized by complete cutaneous syndactyly between toes 1-2, ulnar polydactyly (ranging from nubbins to an almost complete additional finger) and earlobe malformations. Additionally, abnormalities along the medial border of the foot are observed on X-ray imaging. There have been no further descriptions in the literature since 1976.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Syndactyly-polydactyly-ear lobe syndrome | |
| fr | Syndrome de syndactylie-polydactylie-lobe d'oreille anormal | |
| de | Syndaktylie-Polydaktylie-Ohrmuschel-Syndrom | |
| es | Síndrome de sindactilia-polidactilia-lóbulo auditivo anómalo | |
| it | Sindrome da sindattilia, polidattilia e anomalie del lobo dell'orecchio | |
| nl | Syndactylie - polydactylie - oorlel-syndroom | |
| pt | Síndrome de sindactilia-polidactilia-lóbulo auricular | |
| pl | Zespół syndaktylia-polidaktylia-płatek ucha | |
| cs | Syndrom zahrnující syndaktylii, polydaktylii a postižení ušního lalůčku | |
| uk | Синдром синдактилії-полідактилії-аномалії мочки вуха | |
| zh | 并指（趾）畸形-多指（趾）畸形-耳垂综合症 | |
| tr | Sindaktili-polidaktili-kulak lobu sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 186350 | E | validated | |
| ICD-10 | Q74.8 | NTBT | attributed | validated |
| MONDO | 0008517 | E | validated | |
| UMLS | C5191039 | E | validated | |
| GARD | 5090 | 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: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 | 10 cases | Worldwide | Case(s) | Validated | 182299[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_182299[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/3259
- This record as JSON: /data/d/3259.json