LD27.02
category
Hypohidrotic ectodermal dysplasia
Definition
Hypohidrotic ectodermal dysplasia is a genetic disorder of ectoderm development characterised by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine syndrome (X-linked), autosomal recessive and autosomal dominant hypohidrotic ectodermal dysplasia, as well as a fourth rare subtype with immunodeficiency as the key symptom.
Also indexed as
ANOTHER syndromeAnhidrotic ectodermal dysplasiaAutosomal dominant hypohidrotic ectodermal dysplasiaAutosomal recessive hypohidrotic ectodermal dysplasiaChrist-Siemens-Touraine syndromeEDA-ID syndromeEDA-ID syndrome (MIM 300291)Hypohidrotic ectodermal dysplasiaHypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesiaHypohidrotic ectodermal dysplasia with immunodeficiencyX-linked hypohidrotic ectodermal dysplasia