Ehlers-Danlos Syndrome

This is a hereditable connective tissue disorder, which is characterized by a defect in collagen production. The severity of the syndrome can vary depending on the mutation resulting in either mild or significant reduction in collagen synthesis. The syndrome can be mild or life threatening. There have been eleven types of the syndrome identified. The presentation is typically: hypermobile joints, smooth or stretchy, easily-briused skin, fragile blood vessels, and abnormal healing. The autosomal dominant Type IV (vascular type) has aortic involvement. Aortic rupture, aneurysm and dissection can occur. DNA and biochemical studies have been used to diagnose the syndrome. In some cases, a skin biopsy has been found to be useful in confirming a diagnosis.