Conditions / Syndrome
ectodermal dysplasia and immunodeficiency 2
info · Syndrome
An ectodermal dysplasia and immunodeficiency that is characterized by variable features of ectodermal dysplasia (e.g., hypo/anhidrosis, sparse hair, tooth anomalies) and various immunologic and infectious phenotypes of differing severity and that has_material_
An ectodermal dysplasia and immunodeficiency that is characterized by variable features of ectodermal dysplasia (e.g., hypo/anhidrosis, sparse hair, tooth anomalies) and various immunologic and infectious phenotypes of differing severity and that has_material_basis_in heterozygous mutation in the NFKBIA gene on chromosome 14q13.
Signs and symptoms
- Hepatomegaly
- Failure to thrive
- Dry skin
- Sparse scalp hair
- Anhidrotic ectodermal dysplasia
- Recurrent respiratory infections
- Splenomegaly
- Conical tooth
- Chronic diarrhea
- Recurrent infection of the gastrointestinal tract