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Ehlers-Danlos syndrome is a group of rare genetic disorders that diminish the body's ability to make connective tissues. It is caused by the inability of the body to synthesize different collagen types or a defect in synthesis. Six different variants of the disease are known. EDS type 3 is the most common variant, and is caused by the autosomal dominant mechanism. EDS type 4 is also an autosomal dominant defect in the type 3 collagen synthesis. EDS type 6 is an autosomal recessive defect due to deficinecy of an eznyme called lysyl hydroxylase. This results in unstable, flexible joints, including double-jointedness, and elastic, fragile, soft skin that easily forms welts and scars. Other symptoms include eye problems and nearsightedness. Depending on the individual mutation, the severity of the disease can vary from extremely mild to life-threatening. Mitral valve prolapse is also seen, which among other things creates an increased risk for surgery and anasthesia, as well as itself possibly leading to further, dangerous complications. It may be linked to chronic fatigue syndrome, fibromyalgia, and myalgic encephalomyelitis.
Other symptoms or complications often include fragile skin, bruising easily, early onset osteoarthritis (often severe), increased likelihood of organ membranes or arterial membranes rupturing, gum disease, and a long and varied list of things that degrade quality of life or threaten life.
There is no known cure.
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Eponymous diseases
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