Details of Disease
General Information of Disease (ID: DISAQJPI)
| Disease Name | Hypohidrotic ectodermal dysplasia | |||||
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| Synonyms |
ectodermal dysplasia, hypohidrotic; CST syndrome; EDA; ectodermal dysplasia anhidrotic; ectodermal dysplasia 1, Anhydrotic; anhidrotic ectodermal dysplasia 3; HED; anhidrotic ectodermal dysplasia; hypohidrotic X-linked ectodermal dysplasia; anhidrotic ectodermal dysplasia 1
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| Definition |
A genetic disorder of ectoderm development characterized 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 (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency).|DOID classifies this as a subtype of Clouston disease but this seems to be a confusion re hidrotic vs hypohidrotic
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