Eyebrow duplication-syndactyly syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare syndrome with syndactyly characterized by partial duplication of the eyebrows (mainly in the lateral portions) and syndactyly of the fingers and toes. Additional clinical features may include long eyelashes, hypertrichosis, excessive wrinkling of the periorbital skin, congenital lip fibroma, skin hyperelasticity (on the face and chest) and hypermobility of the interphalangeal joints. There have been no further descriptions in the literature since 1989.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Eyebrow duplication-syndactyly syndrome | |
| fr | Syndrome de duplication des sourcils-syndactylie | |
| de | Doppelte Augenbrauen-Syndaktylie-Syndrom | |
| es | Síndrome de duplicación de cejas-sindactilia | |
| it | Duplicazione delle sopracciglia - sindattilia | |
| nl | Wenkbrauwduplicatie - syndactylie-syndroom | |
| pt | Síndrome de duplicação das sobrancelhas-sindactilia | |
| pl | Zdwojenie brwi - syndaktylia | |
| cs | Syndrom zahrnující dvojité obočí a syndaktylii | |
| uk | Синдром подвоєння брів - синдактилії | |
| zh | 眉重复-并指(趾)综合征 | |
| tr | Kaş duplikasyonu-sindaktili sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 227210 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0009200 | E | validated | |
| UMLS | C4518569 | E | validated | |
| GARD | 2216 | 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 | 3 cases | Worldwide | Case(s) | Validated | 3359678[PMID]_2736796[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3359678[PMID]_2736796[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/3172
- This record as JSON: /data/d/3172.json