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.Last update: January 2014
Blepharonasofacial syndrome has been reported in 3 families
The facies with mask-like appearance caused by weakness of facial muscles and lacrimal duct obstruction is characteristic. Clinical features also include telecanthus (with temporal displacement of lacrimal puncta), bulky nose, broad nasal bridge, sometimes a hypoplastic midface, longitudinal cheek furrows, trapezoidal upper lip and malformation of the ears. Intellectual deficit, cutaneous syndactyly, torsion dystonia, increased deep tendon reflexes, Babinski sign, poor coordination, and joint laxity are also observed.
Inheritance might be either autosomal or X-linked dominant.