Epibulbar lipodermoid-preauricular appendage-polythelia syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Epibulbar lipodermoid preauricular appendages polythelia is a branchial arch syndrome described in seven sibs of one Danish family and characterized by supernumerary nipples (polythelia), preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Epibulbar lipodermoid-preauricular appendage-polythelia syndrome | |
| fr | Syndrome de lipodermoïde du globe oculaire-excroissance préauriculaire-polythélie | |
| de | Epibulbäre Lipodermoid-präaurikuläre Anhänge-Polythelie-Syndrom | |
| es | Síndrome de lipodermoide epibulbar-apéndice preauricular-politelia | |
| it | Lipodermoide epibulbare - appendice preauricolare - politelia | |
| nl | Epibulbair lipodermoïd - preauriculair aanhangsel - polythelie-syndroom | |
| pt | Lipodermóide epibulbar - apendice pré-auricular - politelia | |
| pl | Lipodermoid nagałkowy - wyrostki przeduszne - dodatkowe brodawki sutkowe | |
| cs | Syndrom zahrnující epibulbární lipodermoid, preaurikulární přívěsek a polytelii | |
| uk | Синдром епібульбарного ліподермоїду-преаурикулярного придатку-додаткових сосків | |
| zh | 眼球脂质皮样囊肿-耳前附件-多乳头综合征 | |
| tr | Epibulbar lipodermoid-preauriküler apendaj-politeli sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q83.3 | NTBT | attributed | validated |
| MONDO | 0016510 | E | validated | |
| UMLS | C5680927 | 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:139036Branchial arch or oral-acral syndrome
rare developmental anomalies during embryogenesis - ORPHA:183576Genetic branchial arch or oral-acral syndrome
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 | 1 families | Worldwide | Family(ies) | Validated | 20450310[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20450310[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/231742
- This record as JSON: /data/d/231742.json