Conditions / Syndrome
ectodermal dysplasia 9
info · Syndrome
A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the HOXC13 gene on chromosome 12q13.13.
Signs and symptoms
- Absent eyebrow
- Absent eyelashes
- Small nail
- Absent hair
- Atrichia
- Ectodermal dysplasia
- Nail dystrophy
- Sparse hair
- Concave nail
- Unilateral cryptorchidism
Also known as: ECTD9; ectodermal dysplasia 9, hair/nail type