Clouston syndrome

info · Syndrome

An ectodermal dysplasia that is characterized by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected and that has_material_basis_in heterozygous mutation in the GJB6 gene, which encodes connexin-30, on chromosome 13q12.

Signs and symptoms

Abnormality of the hand
Abnormality of the dentition
Small nail
Alopecia totalis
Strabismus
Absent axillary hair
Short stature
Alopecia
Nail dysplasia
Sparse eyebrow

Also known as: Clouston's hidrotic ectodermal dysplasia; Clouston's syndrome; Hidrotic ectodermal dysplasia syndrome; ectodermal dysplasia 2, Clouston type; hidrotic ectodermal dysplasia