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About Ehlers-Danlos syndrome

Ehlers-Danlos syndrome is a group of rare genetic disorders affecting humans and domestic animals caused by a defect in collagen synthesis. Depending on the individual mutation, the severity of the disease can vary from mild to life-threatening. There is no known cure. Treatment is... more

Ehlers-Danlos syndrome is a group of rare genetic disorders affecting humans and domestic animals caused by a defect in collagen synthesis. Depending on the individual mutation, the severity of the disease can vary from mild to life-threatening. There is no known cure. Treatment is supportive.

Symptoms

Common symptoms are unstable, flexible joints with a tendency to dislocate and subluxate, due to ligaments which are overly stretchable, and elastic, fragile, soft skin that easily forms welts and scars. "It was the recommendation of a workshop convened in Berlin by Beighton (1986) that the Ehlers-Danlos designation be used for joint hypermobility with skin changes" in contrast to hypermobility syndromes without skin changes, once known as EDS type 11 (Mendelian Inheritance in Man (OMIM) 147900). Other symptoms can include eye problems, such as lens dislocation and nearsightedness. Bone deformities such as pectus excavatum (sunken chest) or scoliosis may present early. Most serious consequences are due to vascular and organ fragility, which are less frequent. A famous example of one who most likely had this disorder would be Niccolò Paganini.

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