Ablepharon macrostomia syndrome
ORPHA:920· ICD-10 Q87.0
Definition
A rare congenital malformation characterized by absent or severely underdeveloped eyelids (ablepharon), a lateral enlargement of the mouth (macrostomia), malformed external ears, and redundant skin folds.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal