Ehlers–Danlos syndrome

“Ehlers–Danlos syndrome (EDS) (formerly also known as Cutis hyperelastica[1], may also be known as benign joint hypermobility syndrome) is an inherited connective tissue disorder with heterogenous presentations that have been classified into several primary types. Naming and classifications prior to Beighton’s 2008 nosology, revised in 1997, can be considered obsolete. EDS is caused by a defect in the synthesis of collagen, specifically mutations in the COL5A and COL3A genes.
The collagen in connective tissue helps tissues resist deformation. Collagen is an important contributor to the physical strength of skin, joints, muscles, ligaments, blood vessels and visceral organs; abnormal collagen renders these structures more elastic. Depending on the individual, the severity of the mutation can vary from mild to life-threatening. There is no cure, and treatment is supportive, including close monitoring of the digestive, excretory and particularly the cardiovascular systems.”

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