Orofacial digital syndrome type I with oral manifestations - A case report

An 18 year old female reported with the chief complaints of irregular upper front teeth, difficulty in speech and multiple decayed and missing teeth. She had convex profile, increased lower anterior facial height (LAFH) and prominent root of nose. She had a long upper lip with notching at the centre, reminiscent of the pseudo cleft of the lip. Intraorally, the picture was highly grim; upper arch was severely constricted Vshaped with very deep palate, the palatal cleft involved the part of hard and soft palate, tongue was multilobed on both dorsal and ventral surface with irregular contours and no defined boundary. There were multiple hypoplastic, missing and decayed teeth especially in the lower arch. Further examination lead to simultaneous finding of polydactyly, syndactyly and brachydactyly in both the hands and feet. This lead to diagnosis of Orofacial Digital Syndrome; a rare genetic anomaly presenting characteristic disorders of formation in the face, oral cavity and digits of both the limbs.

The objective of this case report is to add to the existing knowledge of the dental community due to their wide role in the management of such cases.