Wikipedia Precis

This revision: 27th April 2013 .
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Turner syndrome or Ullrich–Turner syndrome, 45,X, encompasses several conditions in human females, of which monosomy X is most common.

Occurring in 1 in 2000[3], the syndrome manifests itself in a number of ways. There are characteristic physical abnormalities, such as short stature, swelling, broad chest, low hairline, low-set ears, and webbed necks.[5] Girls with Turner syndrome typically experience gonadal dysfunction, which results in amenorrhea and sterility.

Concurrent health concerns may also be present, including congenital heart disease, hypothyroidism, diabetes, vision problems, hearing concerns, and many autoimmune diseases.[6]

Turner syndrome does not typically cause mental retardation or impair cognition. However, learning difficulties are common among women with Turner syndrome particularly a specific difficulty in perceiving spatial relationships, such as nonverbal learning disorder. This may also manifest itself as a difficulty with motor control or with mathematics. While it is non-correctable, in most cases it does not cause difficulty in daily living.

Most Turner Syndrome patients are employed as adults and lead productive lives.

There is also a rare variety of Turner Syndrome, known as "Ring-X Turner Syndrome", which has an approximate 60 percent association with mental retardation. This variety accounts for approximately 2–4% of all Turner Syndrome cases.[28]

The incidence of Turner syndrome in live female births is believed to be around 1 in 2000.[3]


Useful Links

NHS Guidance

General (layman's) medical guidance on Turner Syndrome


Turner Contact Group Ireland


Turner Syndrome Society of the United States

UK Turner Syndrome Society

A UK based support society for Turner Syndrome. Includes information and details of the society's work.

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