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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. Characterized by the combination of anhidrotic ectodermal dysplasia, cleft lip, and cleft palate. The clinical syndrome is comprised of a characteristic facies (narrow nose and small mouth), wiry, slow-growing, and uncombable hair, sparse eyelashes and eyebrows, obstructed lacrimal puncta/epiphora, bilateral stenosis of external auditory canals, microsomia, hypodontia, cone-shaped incisors, enamel hypoplasia, dystrophic nails, and cleft lip/cleft palate. RHS inheritance is autosomal dominant.

Acronym

RHS

Synonyms

Anhidrotic ectodermal dysplasia with cleft lip/palate
Ectodermal dysplasia, Rapp-Hodgkin type
EDRH
Rapp-Hodgkin ectodermal dysplasia

Keywords

Ectodermal dysplasia

 
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