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Definition

A complex developmental disorder characterized by mental retardation, delayed motor development, epilepsy, microcephaly and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Affected patients show an easily recognizable facial appearance with deep set eyes and hypertelorism, medially divergent, broad eyebrows, prominent columella, pointed chin and uplifted, notched ear lobes. Some patients manifest Hirschsprung disease.

Acronym

MOWS

Synonyms

Hirschsprung disease-mental retardation syndrome
Microcephaly, mental retardation, distinct facial features with or without Hirschsprung disease

Keywords

Hirschsprung disease
Epilepsy
Mental retardation

 
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