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Stickler’s Syndrome. By Justin Leone. Disease?. Stickler’s Syndrome is a disorder, not a disease, that affects collagen throughout the body. Stickler’s Syndrome damages your eyesight, hearing, and destroys your joints. Who it Affects.
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Stickler’s Syndrome By Justin Leone
Disease? • Stickler’s Syndrome is a disorder, not a disease, that affects collagen throughout the body. Stickler’s Syndrome damages your eyesight, hearing, and destroys your joints.
Who it Affects • This disorder is known as an autosomal dominant genetic condition which means that it can occur with equal effect in both males and females. This disorder is passed on to the offspring of an infected parent; the gene is dominant.
Diagnosis • There are two different ways a person can get tested for Stickler’s Syndrome; a twelve-point system test, which measures abnormalities in the ears, eyes, bones and joints, and face/facial palate, if a person gets a five or higher they have Stickler’s Syndrome. Also you can be diagnosed with this disorder if you have a mutation of the COL2A1, COL11A1, or COL11A2 gene.
Pictures • Here are some pictures of people effected by Stickler’s Syndrome.