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Turner syndrome as related to Alkaptonuria


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45,X; Bonnevie-Ullrich Syndrome; monosomy X; TS; Turners Syndrome; Ullrich-Turner syndrome 

AKU; Alcaptonuria; Alkaptonuric ochronosis; Homogentisic acid oxidase deficiency; Homogentisic acidura; Ochronosis; Ochr... 

Turner syndrome is a chromosomal condition that affects development in females. Women with this condition tend to be shorter than average and are usually infertile, or unable to conceive a child, because of a loss of ovarian function. Other features of Turner syndrome vary among affected females and can include webbing of the neck, puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, heart defects, and kidney problems.

Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. Ochronosis, a buildup of dark pigment in connective tissues such as cartilage and skin, is also characteristic of the disorder. People with alkaptonuria typically develop arthritis in adulthood, particularly in the spine and large joints.


Turner syndrome as related to Alkaptonuria


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November 23, 2009


Page Updated: January 17, 2009
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