Ehlers–Danlos Syndrome 6 (Kyphoscoliosis)

EDS is an inherited connective tissue disorder with different 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.

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. There are different types and can vary from mild to life-threatening. There is no cure, and treatment is supportive.

Type 6 is very rare with less than 60 cases around the world. It is characterised by progressive curvature of the spine, fragile eyes, and severe muscle weakness.