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
Review possible medical complications related to 49,XXXXX syndrome:
Research the causes of these diseases that are similar to, or related to, 49,XXXXX syndrome:
See full list of 19 occasional symptoms of 49,XXXXX syndrome
Read more about treatments for 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.
More about prognosis of 49,XXXXX syndrome
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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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