ectodermal dysplasia and immune deficiency

Term ID

DOID:0081077

Synonyms

• Anhidrotic ectodermal dysplasia with immune deficiency
• Ectodermal dysplasia, hypohidrotic, with immune deficiency

Definition

An ectodermal dysplasia syndrome that is 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. (3)

References

• GARD:9936
• OMIM:PS300291

Ontology

Human Disease   ( DOID:0081077 )