ectodermal dysplasia 14

info · Syndrome

An ectodermal dysplasia characterized by scalp hypotrichosis and hypodontia that has_material_basis_in homozygous or compound heterozygous mutation in the TSPEAR gene on chromosome 21q22.3.

Signs and symptoms

Downslanted palpebral fissures
Thick vermilion border
Hypodontia
Sparse scalp hair
Low insertion of columella
Oval face
Conical tooth
Hypohidrosis
Hearing abnormality

Also known as: ECTN14; ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis; hypohidrotic/hair/tooth/nail type