LD27.02 Hypohidrotic ectodermal dysplasia

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

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.

synonyms

• Hypohidrotic ectodermal dysplasia
• Anhidrotic ectodermal dysplasia
• Autosomal dominant hypohidrotic ectodermal dysplasia
• Autosomal recessive hypohidrotic ectodermal dysplasia
• X-linked hypohidrotic ectodermal dysplasia
• Christ-Siemens-Touraine syndrome
• EDA-ID syndrome
• EDA-ID syndrome (MIM 300291)
• Hypohidrotic ectodermal dysplasia with immunodeficiency
• Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia
• ANOTHER syndrome

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