This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Classical Ehlers-Danlos syndrome (EDS) is a genetic connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include skin hyperextensibility, abnormal wound healing, and joint hypermobility. More than 90% of people with classical EDS have mutations in COL5A1 or COL5A2, two genes which encode type V collagen. In rare cases, mutations in the gene encoding type I collagen, COL1A1 gene, may be found. The condition is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated symptoms.
For more information, visit GARD.