Ehlers-Danlos Syndrome

Ehlers-Danlos Syndrome is a collection of mutations that cause defects in the synthesis and processing of collagen fibers, which reduce their tensile strength. Tissues containing high concentrations of collagen, such as skin, ligaments and joints, are frequently affected in Ehlers-Danlos Syndrome. Common phenotypes are hypermobile joints and hyperextensible skin. Electron micrographs of collagen from Ehlers-Danlos patients reveal fibrils that are abnormally shaped compared to collagen from unaffected patients, indicating a structural defect in the collagen fibrils.