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Definition

An autosomal recessive form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is a syndrome characterized by the association of cleft lip/palate, ectodermal dysplasia (sparse short and dry scalp hair, sparse eyebrows and eyelashes), and partial syndactyly of the fingers and/or toes. Two thirds of the patients do not manifest oral cleft but present with abnormal teeth and nails.

Acronym

EDMI

Synonyms

Cleft lip/palate-ectodermal dysplasia syndrome
CLPED1
Ectodermal dysplasia-cleft lip/palate-mental retardation-syndactyly
Ectodermal dysplasia Margarita type
Ectodermal dysplasia type 4
ED4
Margarita Island ectodermal dysplasia
Syndactyly-ectodermal dysplasia-cleft lip/palate
Zlotogora-Ogur syndrome

Keywords

Ectodermal dysplasia

 
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