Stickler Syndrome

Connective Tissue Disorder

Signs and Symptoms

People with Stickler Syndrome have vision, hearing and joint problems. They can be identified by distinctive facial features such as prominent eyes, a small nose, and receding chin. Many are also born with a cleft palate.

Pathogenesis

This disease is a genetic disorder, or hereditary. If a parent has it, the child has a 50% chance of getting Stickler Syndrome. It is caused by a change in one of three collagen genes (coL2A, coL11A1, or coL11A2).

Diagnosis

Stickler Syndrome is diagnosed during infancy or childhood. It can be diagnosed through a genetic test or through close examination of the body by a Doctor.

Prognosis and Management

There is no cure for Stickler Syndrome and it becomes more severe as the child ages. However, there are treatments to help control symptoms and prevent complications and children are expected to lead healthy, full lives.
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