Hypermobile Ehlers-Danlos Syndrome

Watchlist
(log in to enable)
Retrieved
2019-12-01
Source
Genes
Drugs

Hypermobile Ehlers-Danlos syndrome  is an inherited connective tissue disorder that is caused by defects in a protein called collagen. It is generally considered the least severe form of Ehlers-Danlos syndrome (EDS) although significant complications can occur. Common symptoms include joint hypermobility, affecting both large (elbows, knees) and small (fingers, toes) joints; soft, smooth skin that may be slightly elastic (stretchy) and bruises easily; and chronic musculoskeletal (muscles and bones) pain. Although hypermobile EDS is thought to be a genetic condition, the exact underlying cause is unknown in most cases. A small percentage of people with this condition have a change (mutation) in the TNXB gene. Most cases of hypermobile EDS, are inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.