Stickler syndrome is a group of genetic disorders that affects connective tissue, specifically collagen. The condition is characterized by facial abnormalities, ocular problems, hearing loss, and joint problems.
What are the features of Stickler syndrome?
How prevalent is Stickler syndrome?
What other names do people use for Stickler syndrome?
How is Stickler syndrome diagnosed?
Find these answers and more in the “Stickler Syndrome” download.
This is a large, multi-institutional, transformational grant designed to “reach the summit” on a critical path to a breakthrough in basic or translational science that has direct relevance to human health. It must include an institutionally funded graduate student or fellow. Engagement of multi-disciplinary investigators or pharma is highly desirable. Single grant of $200,000 per […]
We created a template referral letter for you to use to simplify the process when you are referring a patient to a specialist for further evaluation or testing for the diagnosis of Marfan syndrome or a related disorder. The letter makes it easy for you to note the features you observed that raise your suspicion of these disorders.
Genetic testing for mutations in fibrillin-1 (FBN1) and other genes has become an important and reliable option to aid in the diagnosis of Marfan syndrome and related disorders. However, the results of genetic testing for the diagnosis of disorders are not always straightforward. Therefore, working with a medical geneticist (a physician with training in genetics) […]
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