Blepharonasofacial malformation syndrome
Blepharonasofacial malformation syndrome
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.
Also known as blepharonasofacial malformation syndrome, Pashayan syndrome, Pashayan-Prozansky syndrome — per MONDO