Ehlers-Danlos syndrome (EDS) is the name given to a group of hereditary disorders that all involve the weakening of connective tissues in the body. Among the most common symptoms seen in patients with EDS are skin that bruises and stretches easily, small and fragile blood vessels, loose joints, and weakness of body tissues.
Since connective tissue is found throughout the body and serves many important roles, such as supporting skin and bones and making up blood vessels, malfunctioning in this tissue can be a very serious problem. Joints can move beyond their normal range of motion, and this can lead to dislocation of the shoulder and other major joints.
There is no cure for Ehlers-Danlos syndrome. Treatment for these disorders focuses on managing symptoms.
For more information on Ehlers-Danlos syndrome, see these articles from the Mayo Clinic, Medicine.net, and the U.S. government's National Library of Medicine. These articles explain the six different types of Ehlers-Danlos syndrome, their characteristics, and more
Showing posts with label disorders. Show all posts
Showing posts with label disorders. Show all posts
Monday, November 30, 2009
Tuesday, July 21, 2009
Klinefelter Syndrome: Men with an Extra X Chromosome
In normal male development, there is one X chromosome and one Y chromosome. But in the rare disorder called Klinefelter syndrome, patients have an extra X chromosome or part of one in most cells of the body (which is why the disorder is also called XXY condition).
Persons with Klinefelter syndrome produce less testosterone and may have more feminized physical features such as smaller testicles and less facial and body hair than other males, as well as breast enlargement. Persons may also suffer from infertility. (Ironically, though, some children and adults with the disorder may be taller than their counterparts of the same age, according to a Klinefelter syndrome article from the Genetics Home Reference.)
Unfortunately for Klinefelter sufferers, the disorder has more than just these physical symptoms. Boys with Klinefelter syndrome may also have problems with speech and language development, and may have learning disabilities.
You can find more information on Klinefelter syndrome at the government's Medline online medical encyclopedia, which gives a good lay overview.
For details on clinical research being done on Klinefelter syndrome, the National Human Genome Research Institute has an overview with links to research studies and additional resources.
Persons with Klinefelter syndrome produce less testosterone and may have more feminized physical features such as smaller testicles and less facial and body hair than other males, as well as breast enlargement. Persons may also suffer from infertility. (Ironically, though, some children and adults with the disorder may be taller than their counterparts of the same age, according to a Klinefelter syndrome article from the Genetics Home Reference.)
Unfortunately for Klinefelter sufferers, the disorder has more than just these physical symptoms. Boys with Klinefelter syndrome may also have problems with speech and language development, and may have learning disabilities.
You can find more information on Klinefelter syndrome at the government's Medline online medical encyclopedia, which gives a good lay overview.
For details on clinical research being done on Klinefelter syndrome, the National Human Genome Research Institute has an overview with links to research studies and additional resources.
Labels:
disorders,
genetic disorder,
health,
Klinefelter syndrome,
medicine
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