Stickler Syndrome

A genetic disorder caused by mutations in genes that are responsible for forming collagen, proteins which add strength and elasticity to connective tissue. Stickler syndrome affects connective tissue throughout the body, but most notably in the eyes (it is the most common cause of retinal detachment in children), ears, face and joints. While there is no medical cure for Stickler syndrome, when it is identified early, a lot can be done to treat the problems it causes. Symptoms include eye problems including nearsightedness, cataracts and retinal detachment; hearing loss; facial abnormalities such as cleft palate; and short stature in comparison to unaffected siblings. In most cases, people don't have all of these symptoms and the features can vary widely from person to person.