Hypermobile Ehlers-Danlos syndrome

Disease Overview

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 (muscle and bone) pain. While hypermobile EDS is regarded as a genetic condition, the genetic cause is unknown as the gene(s) responsible have not been identified. Inheritance is autosomal dominant. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.[563][8507][8955]

Synonyms

• Ehlers-Danlos syndrome, hypermobility type
• Hypermobile EDS
• hEDS
• EDS3 (formerly)
• Ehlers-Danlos syndrome type 3 (formerly)