Stickler syndrome affects around 1 in 7,500 people in the United States. The hereditary disorder causes mutations in specific genes, leading to signs and symptoms such as distinctive facial features and problems with hearing, vision, and the joints.
Stickler syndrome is a group of conditions that affect collagen, a protein found throughout the body that supports and connects skin, muscle, and bone. Collagen is also the main component of the cornea, vitreous humor, and sclera located in the eye. Stickler syndrome leads to mutations in the genes that activate the production of collagen. This, in turn, affects the quantity and quality of collagen production, leading to defects in the development of connective tissue.
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