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Ehlers-Danlos syndrome, kyphoscoliosis type Treatment and Symptoms


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Ehlers-Danlos syndrome, kyphoscoliosis type

Lysyl-hydroxylase deficiency

Ehlers-Danlos syndrome is a group of inherited disorders that affect connective tissue, the tissue that binds and supports the body's muscles, ligaments, organs, and skin. The kyphoscoliosis type is characterized by progressive curvature of the spine (scoliosis), fragile eyes, and severe muscle weakness. This form of Ehlers-Danlos syndrome was formerly called type VI or the ocular-scoliotic type. Ehlers-Danlos syndrome, kyphoscoliosis type is a subtype of Ehlers-Danlos syndrome. The most common signs and symptoms of this condition are loose joints with frequent dislocations, weak muscle tone in infants (which can make them seem "floppy"), muscle weakness, and progressive curvature of the spine from early childhood. People with the disorder often become unable to walk by their teens or twenties as symptoms progress. The condition also affects the eyes, causing vision loss in some cases. The eyeball is fragile and easily damaged, and the clear front part of the eye (the cornea) may be smaller than normal or unusually shaped. Other features of the disorder include soft, velvety skin that is stretchy and prone to bruising and scarring. People with the condition may have a Marfan-like appearance—tall, with long limbs, fingers, and toes. Osteoporosis, a disorder that weakens bones, is also common. The most serious complication of this disorder is unpredictable tearing of arteries. A torn artery can cause life-threatening internal bleeding, stroke, or shock.

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Ehlers-Danlos syndrome, kyphoscoliosis type
... Ehlers-Danlos syndrome is a group of inherited disorders that affect connective tissue, the tissue that binds and supports the body's muscles, ligaments, organs, and skin. The kyphoscoliosis type ...
Source: Genetics Home Reference

   

Ehlers-Danlos syndrome, kyphoscoliosis t... Articles




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July 25, 2008



Page Updated: September 6, 2005
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