anhidrotic ectodermal dysplasia

anhidrotic ectodermal dysplasia
a genetically heterogeneous disorder characterized by ectodermal dysplasia associated with aplasia or hypoplasia of the sweat glands, hypothermia, alopecia, missing or conical teeth, and typical facies (frontal bossing, midfacial hypoplasia, saddle nose, large chin, and thick lips). Inheritance is most commonly X-linked; it can also be autosomal recessive or autsomal dominant, and there is a distinct X-linked form with immune deficiency. Called also Christ-Siemens-Touraine syndrome and hypohidrotic ectodermal d.

Medical dictionary. 2011.

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