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What is Ehlers-Danlos Syndromes (EDS)?

Ehlers-Danlos syndromes (EDS)

Ehlers-Danlos syndromes (EDS) are a group of inherited connective tissue disorders caused by abnormalities in the structure, production, and/or processing of collagen. There are 13 subtypes of EDS. Although other forms of the condition may exist, they are extremely rare and are not well-characterized. The signs and symptoms of EDS vary by type and range from mildly loose joints to life-threatening complications. Features shared by many types include joint hypermobility and soft, velvety skin that is highly elastic (stretchy) and bruises easily. 

Mutations in a variety of genes may lead to EDS; however, the underlying genetic cause in some families is unknown. Depending on the subtype, EDS may be inherited in an autosomal dominant or an autosomal recessive manner. There is no specific cure for EDS. The treatment and management is focused on preventing serious complications and relieving associated signs and symptoms

What causes EDS?

EDS is thought to be caused by a gene mutation that affects collagen, which gives structure and strength to connective tissue. Some of the genes associated with EDS provide instructions for making collagen itself, while other genes control how it works. Mutations in any of the genes that affect the production or use of collagen may lead to weakening of the connective

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Chiari EDS Newsletter - Spring 2023