Epibulbar lipodermoid-preauricular appendage-polythelia syndrome
ORPHA:231742· ICD-10 Q83.3
Definition
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.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal