Oro-Facio-Digital Syndrome I

Oro-facio-digital syndrome, a group of congenital anomalies, is characterized by malformations of the oral cavity (cleft palate and tongue, abnormal dentition, high arched palate, tongue lobulation, hamartomata on the tongue), face (frontal bossing, facial asymmetry, hypertelorism, facial milia), and digits (syndactyly, brachydactyly, clinodactyly, polydactyly. This syndrome has nine different types. Oro-facio-digital syndrome type I (OFDS1) is the most common type, which identified by French dentists Papillon Leage and Psaume Jean, in 1954. OFDS 1 is an X-linked dominant condition that is lethal for males. OFDS 1 is a rare syndrome, occurring in approximately 1/250,000 live births. Approximately 75% of cases are sporadic. There is no specific therapy for OFDS 1 other than surgical correction of the dysmorphic features. Being a rare entity, this paper presents a case of OFDS 1 in a newborn.