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Hypohidrotic ectodermal dysplasia

ORPHA:238468· ICD-10 Q82.4

Definition

A rare genetic ectodermal dysplasia syndrome characterized by sparse hair, abnormal or missing teeth, decrease or absent sudation and typical facial features.

Prevalence
1-9 / 100 000
Inheritance
Autosomal dominant, Autosomal recessive, X-linked recessive
Age of onset
Infancy, Neonatal