Oro-facio-digital syndrome type 1: case report

Oro-facio-digital syndrome (OFDS), a group of congenital anomalies, is characterized by malformations of the oral cavity (cleft palate, high arched palate, tongue lobulation, hamartoma on the tongue), face (frontal bossing, facial asymmetry, hypertelorism), and digits (syndactyly, brachydactyly, polydactyly). OFDS 1 is an X-linked dominant condition. OFDS 1 is a rare syndrome, occurring in approximately 1/250,000 live births. Being a rare entity, this paper presents a case of OFDS 1.