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