An autosomal dominant syndrome of uveal colobomata, cleft lip and palate, and mental retardation.

Abstract

A family is described in whom there is autosomal dominantly inherited uveal colobomata, associated eye defects and cleft lip and palate occurring in 12 subjects over 3 generations. Considerable variability in expression of the gene is apparent, uveal colobomata being the most constant feature, and the full syndrome probably includes mental retardation of varying degree. The possibility of association with neural tube defect is discussed.