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49,XXXXY syndrome: A rare sex chromosome abnormality where there are three extra copies of the X chromosome. More detailed information about the symptoms, causes, and treatments of 49,XXXXY syndrome is available below.
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A sex chromosome aneuploidy with an incidence of 1 in 85,000 male births. Principal findings include radioulnar synostosis, hypogonadism, mental retardation, and speech disorders. Associated disorders ara variable and may include characteristic facies, multiple skeletal abnormalities, and cardiac and genital malformations. Many features are similar to those seen in the Klinefelter syndrome (chromosome XXY syndrome), hence the synonym Klinefelter variant. - (Source - Diseases Database)
49,XXXXY syndrome is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that 49,XXXXY syndrome, or a subtype of 49,XXXXY syndrome,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
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