49,XXXXX syndrome: A rare chromosomal disorder that affects only females and involves body cells having five copies of the X chromosome instead of the normal two. More detailed information about the symptoms, causes, and treatments of 49,XXXXX syndrome is available below.
See full list of 20 symptoms of 49,XXXXX syndrome
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See full list of 19 occasional symptoms of 49,XXXXX syndrome
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Prognosis for 49,XXXXX syndrome: The prognosis varies considerably depending on the type and severity of symptoms that develop. Prompt diagnosis and appropriate treatment can improve prognosis and quality of life.
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Presence of five X chromosomes (49,XXXXX) associated with short stature, delayed psychomotor development, characteristic facies with upslanting palpebral fissures, micromelia with radioulnar synostosis, and other abnormalities. - (Source - Diseases Database)
49,XXXXX 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,XXXXX syndrome, or a subtype of 49,XXXXX syndrome,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list 49,XXXXX syndrome as a "rare disease".
Source - Orphanet
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