Oral-Facial-Digital Syndrome Type 1: Further Clinical and Molecular Delineation in 2 New Families

Objective: Oral-facial-digital syndrome type 1 (OFD1) [OMIM 311200] is a rare genetic disorder associated with congenital anomalies of the oral cavity, face, and digits. This condition is associated with mutations in the OFD1 gene. Our objective was to recruit patients with the OFD1 clinical phenotype without genetic confirmation, aiming to identify genetic variants in the OFD1 gene. Design: Three patients from 2 unrelated families were...