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Definition

A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures such as hair, teeth, nails and sweat glands, with or without any additional clinical sign. Each combination of clinical features represents a different type of ectodermal dysplasia. ECTD2 is an autosomal dominant condition characterized by atrichosis, nail hypoplasia and deformities, hyperpigmentation of the skin, normal teeth, normal sweat and sebaceous gland function. Palmoplantar hyperkeratosis is a frequent feature. Hearing impairment has been detected in few cases.

Acronym

ECTD2

Synonyms

Clouston syndrome
Ectodermal dysplasia 2 hidrotic
Ectodermal dysplasia hidrotic autosomal dominant
ED2
HED2

Keywords

Ectodermal dysplasia
Palmoplantar keratoderma

 
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