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Ehlers-Danlos Syndrome

It is estimated that Ehlers-Danlos syndrome (EDS) affects about 1 in 5,000 persons worldwide. This inherited disorder results in the abnormal development of collagen that affects the joints and skin in varying degrees that range from mild symptoms to critical complications.

Mutations in the genes prevent collagen from forming property. The production or processing of collagen is changed so that the structure of connective tissue is not developed completely. The result is that skin, bones and organs do not have the strength and elasticity provided by this essential substance.

There are six classified types of the syndrome with other variations occurring in rarely documented cases. All affect joint movement and may involve weak muscle tone often resulting in dislocation of the joints, chronic pain and arthritis. The kyphoscoliosis type causes severe curvature of the spine.

Skin structure is also affected. Those with EDS have very soft, elastic skin that is easily damaged and slow to heal. The surface of the eye may be impaired, leading to possible blindness or rupture of the cornea.

The most severe form of the syndrome is the vascular type. In this case, the vascular walls are compromised and can result in the rupture of blood vessels, uterus and bowels leading to internal bleeding or stroke.

EDS may be diagnosed in infancy and is seen as loose joints, dislocations and motor skill delays due to weak muscle tone. Tests can be performed to diagnose the syndrome including collagen typing, collagen gene mutation testing, echocardiogram and lysyl hydroxylase or oxidase activity.

There is no cure, but those diagnosed with the syndrome can expect to have a normal life span. Symptoms are cared for on an individual basis and may include pain medications, physical therapy and rehabilitative care. Those with the vascular type will be closely monitored as their risk is potentially life threatening.

For more information and support, please contact the Ehlers-Danlos National Foundation at 1760 Old Meadow Road, Suite 500, McLean, Virginia 22102.

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