Orofaciodigital Syndrome Viii

Clinical Features

Edwards et al. (1988) described a family with orofaciodigital manifestations including hypertelorism or telecanthus, broad, bifid nasal tip, median cleft lip, tongue lobulation and/or hamartomas, oral frenula, high-arched or cleft palate, bilateral polydactyly, and duplicated halluces. Males in the family also had abnormal tibia, short stature, and recurrent aspiration pneumonia. The male proband also was noted to have almost complete hypoplasia of the epiglottis and arytenoid cartilages. X-linked recessive inheritance was suggested.

In a review of orofaciodigital syndromes, Toriello (1993) listed the male patient of Goodship et al. (1991), who had classified him as a case of OFDS type I (311200), as a probable case of OFDS VIII. The phenotype included hydrocephalus, absent corpus callosum, hypertelorism, pseudocleft upper lip, lobed tongue, oral frenula, cleft soft palate, atrioventricular septal defect, bifid halluces, and postaxial polydactyly of hands. Toriello (1993) stated that OFDS types I and VIII may be allelic, with male survival occurring in type VIII but not in type I.