Conditions / Syndrome
ectodermal dysplasia 6
info · Syndrome
A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 17p12-q21.2.
Signs and symptoms
- Alopecia
- Sparse body hair
- Thin toenail
- Concave nail
- Dystrophic toenail
- Sparse hair
- Abnormal sweat gland morphology
- Intellectual disability
Also known as: ECTD6; ectodermal dysplasia 6, hair/nail type