Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit. Five cases in two families have been reported (two males and three females). Main clinical features include prominent forehead and occiput, round face with full cheeks, hypertelorism, esotropia, downslanting palpebral fissures, myoclonic twitching of the eyelids, conjugate deviation of the eyes, bifid uvula, pectus excavatum, short sternum, kyphosis, postaxial polydactyly, normal stature and severe spasticity. Autosomal recessive inheritance has been suggested, but the causative gene has not yet been identified.
Last update: November 2009