Hypohidrotic ectodermal dysplasia (HED, OMIM 224900) is a rare autosomal recessive syndrome resulting from germline mutations in any of the EDA, EDAR or EDARADD genes in humans (Kere et al., 1996; Arte et al., 2013). The gene discussed is EDAR; the disease is hypohidrotic ectodermal dysplasia.