ectodermal dysplasia 4

info · Syndrome

A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the KRT85 gene on chromosome 12q13.13.

Signs and symptoms

Absent eyebrow
Absent eyelashes
Alopecia
Sparse body hair
Congenital onychodystrophy
Nail dystrophy
Brittle hair
Onycholysis
Pili torti
Temporal hypotrichosis

Also known as: ECTD4; ectodermal dysplasia 4, hair/nail type