Disease
Ectodermal dysplasia - autosomal dominant
Overview

Contributor: Gordon K. Klintworth
Autosomal dominant ectodermal dysplasia (OMIM #129490) is variety of ectodermal dysplasia. It is a type of  hypohidrotic ectodermal dysplasia [ectodermal dysplasia - hypohidrotic]. The responsible gene has been mapped to human chromosome 2 (2q11-q13) and may be allelic with autosomal recessive ectodermal dysplasia [ectodermal dysplasia - autosomal recessive]. The manifestations include a smooth dry skin, hypotrichosis, decreased sweating and dental abnormalities. Ectodermal dysplasia type 2 is one type of autosomal dominant ectodermal dysplasia.