Journal of Medical Genetics (1976). 13, 281-284. Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome: dominant inheritance and variable expression

Summary. An infant is reported with a complete form of the ectrodactyly-ectodermal dysplasia clefting (EEC) syndrome, inherited from his mother, who has a partial expression ofthe condition, without clefting. This observation stresses the phenotypic variability of the EEC syndrome, which in most cases is inherited as an autosomal dominant with reduced penetrance. The association of ectrodactyly, ectodermal dysplasia, and cleft lip and palate was recently stressed by Rudiger, Haase, and Passarge (1970), though there are previous reports (see review b