Ectrodactyly, ectodermal dysplasia and cleft palate (EEC syndrome). Report of a family and review of the literature.
A family is described in which a father and son are affected with ectrodactyly, ectodermal dysplasia and cleft palate. This particular constellation of major malformations may constitute a variant form of the EEC syndrome which characteristically includes cleft lip with or without cleft palate. From a review of the cases previously reported in the literature, autosomal dominant inheritance is the most likely mode of transmission of these conditions.
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002972:Cleft Palate / Q000235:genetics*; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D008297:Male; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*