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Ehlers-Danlos syndrome

Ehlers–Danlos syndrome
Ehlers-Danlos syndrome4.jpg
Individual with EDS displaying skin hyperelasticity
Classification and external resources
Specialty Medical genetics
ICD-10 Q79.6 (ILDS Q82.817)
ICD-9-CM 756.83
DiseasesDB 4131
MedlinePlus 001468
eMedicine derm/696 ped/654
Patient UK Ehlers–Danlos syndrome
MeSH D004535
GeneReviews
Orphanet 98249
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Ehlers–Danlos syndrome (EDS) is a group of genetic connective tissue disorders. Symptoms can vary from mildly loose joints to life-threatening complications such as aortic dissection.Chronic pain or early osteoarthritis may also occur.

EDS is caused by a defect in the structure, production, or processing of collagen or proteins that interact with collagen. The collagen in connective tissue helps tissues resist deformation. Collagen is an important contributor to the physical strength of tissue; abnormal collagen renders these structures more elastic. In some cases, it can be life-threatening. People with joint pain may be misdiagnosed with hypochondriasis, depression, chronic fatigue syndrome, or other conditions. There may be poor knowledge about EDS among practitioners.

There is no known cure for EDS. Treatment is supportive, including close monitoring of the digestive, excretory, and particularly the cardiovascular systems. Physical therapy, bracing, and corrective surgery may help with injuries and pain that tend to develop in certain types of EDS, although extra caution and special practices are advised to prevent permanent damage. EDS is a long term syndrome.

EDS affects about 1 in 5,000 people globally. Excess mobility was first described by Hippocrates in 400 BC. The syndrome is named after two physicians, Edvard Ehlers from Denmark and Henri-Alexandre Danlos from France, who described it at the turn of the 20th century.

Signs vary widely based on which type of EDS the patient has. In each case, however, the signs are ultimately due to faulty or reduced amounts of collagen. EDS typically affects the joints, skin, and blood vessels. Following is a list of major signs and symptoms.


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