Rare chromosomal genetic syndrome with one X chromosome and no second sex chromosome (X or Y). People are female as there is no male Y chromosome. The effects are often relatively minor, although sterility is possible. ...more »
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See full list of 27 occasional symptoms of Turner Syndrome
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A syndrome in which the affected patients have only 45 chromosomes, the loss of one of the X chromosomes producing an XO chromosome constitution. The syndrome occurs in 1/2500 female births and nearly 99% of XO fetuses are aborted. Gonadal agenesis and short stature are the main features in the surviving infants. Associated anomalies may included webbed neck, cubitus valgus, shield chest, short stature, lymphedema, coarctation of the aorta, pigmented nevi, and various renal, skeletal, dermatologic, neoplastic, and autoimmune complications. Mental retardation is attributed to ring chromosome X. The phenotype varies and not all abnormalities occur in all patients. - (Source - Diseases Database)
Turner Syndrome is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Turner Syndrome, or a subtype of Turner 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 Turner Syndrome as a "rare disease".
Source - Orphanet
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