Conditions / Syndrome
ectodermal dysplasia 1
info ยท Syndrome
A hypohidrotic ectodermal dysplasia that has_material_basis_in X-linked recessive mutation in EDA on chromosome Xq13.1.
Signs and symptoms
- Absent eyebrow
- Sparse hair
- Dry skin
- Thick vermilion border
- Prominent forehead
- Fever
- Constipation
- Periorbital hyperpigmentation
- Fine hair
- Sparse body hair
Also known as: CST syndrome; Christ-Siemens-Touraine syndrome; ED1; HED1; X-linked anhidrotic ectodermal dysplasia