ectodermal dysplasia 8

info · Syndrome

An ectodermal dysplasia characterized by hypotrichosis, hypodontia, and dystrophic toenails that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 18q22.1-q22.3.

Signs and symptoms

Macrodontia
Dystrophic fingernails
Aplasia/Hypoplasia of the eyebrow
Irregular dentition
Sparse scalp hair
Sparse or absent eyelashes
Dystrophic toenail
Agenesis of permanent teeth
Hypohidrosis

Also known as: ECTD8; Fried's tooth and nail syndrome; ectodermal dysplasia 8, hair/tooth/nail type