Orofaciodigital syndrome type 8

Definition

A rare orofaciodigital syndrome characterized by hypertelorism, telecanthus, broad and bifid nasal tip, median cleft of the upper lip, tongue lobulation and/or hamartomas, oral frenula, high-arched or cleft palate, hypoplasia of the epiglottis, arytenoid cartilages, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, bifid halluces, short stature, and mild intellectual deficiency. Absent corpus callosum, hydrocephalus, atrioventricular septal defect and recurrent aspiration pneumonia, have also been reported. There have been no further descriptions in the literature since 1993.