The gene is named FBN1. Safe activities are usually things like non-competitive bike riding, swimming, or dancing — just be sure that it's low impact, can be done at a slower pace, and doesn't involve any quick bursts of exertion. In people with Marfan syndrome, this "glue" is weaker than normal. Support is available both locally and nationally to help you and your child understand Marfan syndrome better. They may have an abnormal curve to their spine or a different shape to their chest. If no one else in the family has the disorder, the patient has to show symptoms in organs or physical symptoms.
This may produce shortness of breath, an irregular pulse, and undue tiredness. How Is It Monitored and Treated? Marfan syndrome is a genetic disorder. This is known as variable expression, and it makes it almost impossible to predict how the disease will progress in any affected individual. This can also affect height, arm length, and life span. If you have Marfan syndrome, check with your doctor about what's safe. What Is Marfan Syndrome? Some people with Marfans have speech impediments as a result of the high palates and small jaws. Although aortic graft surgery is a serious undertaking it usually results in a good outcome and a satisfactory quality of life. If the lens of the eye becomes significantly dislocated or if there are other complications, surgery may be necessary. Marfan syndrome is named after Antoine Marfan, the French doctor who first described the disorder in What Are the Signs and Symptoms? At 14, he pretty much towered over his classmates. Without the structural support provided by fibrillin, many connective tissues are weakened, which can have severe consequences on support and stability. Doctors may prescribe special medicines called beta blockers and ARBs angiotensin-receptor blockers , which work to lower blood pressure and reduce wear and tear on the blood vessels. Marfan syndrome may also cause problems with a person's eyes and bones. Some have severe cases of Marfan syndrome and many symptoms that require lots of medical care. And they may need to sit out some activities in P. Curvature of the spine scoliosis is a common problem, as is abnormal indentation pectus excavatum or protrusion pectus carinatum of the sternum. Sometimes the fingers have a long, thin, spidery appearance known as arachnodactyly. New valve-sparing surgical techniques are becoming more common. This way the care team can find any problems early and start treatment right away. Because teens' bodies grow and change so quickly, most teens will need echocardiograms at least once a year, plus frequent eye and bone exams. Sometimes severe cases of scoliosis and chest wall problems may require surgery. Safe activities are usually things like non-competitive bike riding, swimming, or dancing — just be sure that it's low impact, can be done at a slower pace, and doesn't involve any quick bursts of exertion.
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Fragile X Syndrome - causes, symptoms, diagnosis, treatment, pathology
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