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Definition

An X-linked dominant disease characterized by moderate to severe mental retardation, macroorchidism (enlargement of the testicles), large ears, prominent jaw, and high-pitched, jocular speech. The defect in most patients results from an amplification of a CGG repeat region in the FMR1 gene and abnormal methylation.

Acronym

FXS

Synonyms

Fragile X mental retardation syndrome
Marker X syndrome
Martin-Bell syndrome
Mental retardation, X-linked, associated with marXq28
X-linked mental retardation and macroorchidism

Keywords

Mental retardation

 
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