Hypohidrotic ectodermal dysplasia with immunodeficiency
ORPHA:98813· ICD-10 D82.8
Definition
A rare ectodermal dysplasia syndrome characterized by signs of ectodermal dysplasia (sparse hair, abnormal or missing teeth, decrease or absent sudation), typical facial features (protruding forehead, wrinkles under the eyes, characteristic periorbital hyperpigmentation), and immunodeficiency.
- Prevalence
- Unknown
- Inheritance
- Autosomal dominant, X-linked recessive
- Age of onset
- Infancy, Neonatal