Conditions / Syndrome
ectodermal dysplasia 5
info · Syndrome
A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 10q24.32-q25.1.
Signs and symptoms
- Dystrophic fingernails
- Sparse scalp hair
- Absent toenail
- Sparse eyelashes
- Sparse eyebrow
Also known as: ECTD5; ectodermal dysplasia 5, hair/nail type