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While Stickler syndrome can sometimes be diagnosed based on your child's medical history and a physical exam, additional tests are needed to determine the severity of the symptoms and help direct treatment decisions. These may include:
Genetic testing is available to assist in diagnosis in some cases. Genetic testing can also be used to help in family planning and to determine your risk of passing the gene on to your children when the hereditary pattern is not clear from the family history. Genetic counseling should be provided for affected people.
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