Hypohidrotic ectodermal dysplasia with immunodeficiency

Orpha code: 98813OMIM code: 612132

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.

Disease data
Classification

Disease

Synonyms
Anhidrotic ectodermal dysplasia with immunodeficiency
Anhidrotyczna dysplazja ektodermalna z niedoborem odporności
EDA-ID
EDA-ID
HED-ID
ORPHA code
98813
OMIM code
612132
ICD10 code
D82.8
ICD11 code
-

No additional description.

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