Blepharonasofacial malformation syndrome
ORPHA:1252· ICD-10 Q87.0
Definition
Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant, X-linked dominant
- Age of onset
- Childhood