Anhidrotic ectodermal dysplasia: autosomal dominant inheritance with palate and lip anomalies.

Ectodermal dysplasia involves faulty development of embryonic ectoderm and its subsequent derivatives. Cockayne (1933) described 200 defects of ectodermal origin. It has been suggested that cases fall into two clinical and genetical groups (Weech, 1929). The hidrotic form appears usually to be determined by an autosomal dominant gene and the anhidrotic (or hypohidrotic) form by an X-linked recessive gene mutation. However, there are clinical differences, other than ability to sweat, that characterize the two groups of cases. This paper reports a mother and her son and daughter, all with diminished capacity to sweat and all with hare-lip and cleft palate.