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.
In order to have better outcomes in the emergency department for people with genetic aortic and vascular conditions, a Patient Care Coordination Note (PCCN), can provide triage nurses and ER physicians, with life-saving information for these rare conditions. This patient care coordination note appears in the upper left hand corner in red, when you open […]
For years, geneticists and cardiologists have taken pride in their ability to identify individuals with Marfan syndrome based on clinical assessment alone, and have minimized a role for genetic testing in the diagnosis. Once the gene FBN1 was found to be the cause of Marfan syndrome, testing was undertaken to determine the role of genetic testing in […]
The nervous system—the brain and spinal column—are surrounded by fluid contained in a membrane called the dura, which is primarily made up of connective tissue. The enlargement of this membrane (and sometimes the presence of cysts) is referred to as dural ectasia. Dural ectasia is present in more than 60 percent of people who have […]
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