Stickler syndrome is 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.
Stickler syndrome affects 1 out of every 7,500 people, but experts believe that it is widely under-diagnosed. While there is no medical cure for Stickler syndrome, when it is identified early, there is a lot that people can do to treat the problems it causes.
- Eye problems including nearsightedness, cataracts and retinal detachment
- Hearing loss
- Facial abnormalities, such as cleft palate
- Short stature in comparison to unaffected siblings
- Some body type features that are similar to Marfan syndrome, except tall stature
Usually people don’t have all of these symptoms and the features can vary widely from person to person. Even members of the same family can have different symptoms. Or, a person may have multiple symptoms but only one that is is severe enough to trigger a diagnosis.
To learn more about Stickler syndrome and its diagnosis and treatment, download: