Oro-facial-digital syndrome: A report of two cases

The Oro-facial-digital syndrome (OFDS) is a rare developmental anomaly characterized by congenital malformations involving the face, oral cavity, hands and feet. Other organ systems can be involved, defining specific types of OFDS. A recessive mode of inheritance is proposed. To date 13 types have been distinguished based on characteristic clinical manifestations. OFDS has an estimated incidence of 1 in 50,000-250,000 newborns. Two cases of OFDS (15-year-old female and 52-year-old male), who reported to the outpatient clinic of Oral Medicine Department, are presented here. The first case reported with mal-alignment of teeth and the second one with the complaint of bleeding from the palate since 2 weeks. The overlapping features exhibited by different types of OFDS (as seen in these 2 cases) make the diagnosis extremely difficult.