Frontofacionasal Dysplasia

A rare congenital malformation characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes).

Epidemiology

Five cases have been reported so far.

Clinical description

The etiology remains unknown.

Genetic counseling

The syndrome is inherited in an autosomal recessive manner.