Stickler Syndrome

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. It affects connective tissue throughout the body, but most notably in the eyes (which is the most common cause of retinal detachment in children), ears, face, and joints.

It is estimated that 1 in 7,500 people are effected by Stickler Syndrome. However, experts believe that it is widely under-diagnosed. It has no cure, but when it is identified early, the quality of life can be improved.

Stickler Syndrome may include:

Symptoms:

– 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, although many with Marfan Syndrome tend to be tall, and those with Stickler Syndrome tend to be of smaller stature.

It is unusual for people to have all of these symptoms, and as result the features can vary widely from person to person. It is also routinely seen that members of the same family, exhibit different symptoms from each other. In some cases a person may only have one severe symptom and in certain cases this will be enough to make a clinical diagnosis.

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