Ehlers–Danlos syndrome (
EDS) is an
inherited connective tissue disorder with presentations that have been classified into several primary types. EDS is caused by a defect in the structure, production, or processing of
collagen or proteins that interact with collagen, such as mutations in the COL5A or
COL3A genes. (This is the collagen of
granulation tissue, and is produced quickly by young fibroblasts before the tougher type I collagen is synthesized. Commonly associated with
keloid formation, reticular fiber, and found in artery walls, skin, intestines and the uterus—COL3A1.) The collagen in connective tissue helps tissues resist deformation. Collagen is an important contributor to the physical strength of skin, joints, muscles, ligaments, blood vessels and visceral organs; abnormal collagen renders these structures more elastic. In some cases, the severity of the
mutation can be life-threatening. EDS can have neuromuscular complications including ocular and ophthalmic complications.