The presenting symptoms of Marfan syndrome can be highly variable and, as a result, the diagnosis of the condition can be difficult. A detailed family and medical history should be taken to establish ...

Progressive enlargement of the aortic root, leading to dissection, is the main cause of premature death in patients with Marfan's syndrome. Recent data from mouse models of Marfan's syndrome suggest ...

Ann Reinking teaches sufferers of rare genetic disorder to accept themselves. June 24, 2011— -- Ann Reinking, famous star of stage and screen, is focusing on a cause that's close to her heart: ...

Marfan syndrome is an autosomal dominant genetic disorder caused by the misfolding of the protein fibrillin-1. It is also a connective tissue disorder with varied expressions in the body with systemic ...

When Kayla Light's son Kayleb was born nearly three years ago, she knew she would have to get him tested to see whether he had Marfan syndrome. Light said her son's biological father has the ...

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Jonathan Jeanne, who was previously considered a potential first-round selection in the 2017 NBA draft, has been diagnosed with Marfan syndrome, a serious heart condition that could threaten to halt ...

One of the priority objectives of research into rare diseases is to develop new treatments, and orphan medicines — which target conditions affecting no more than 5 in 10,000 people in the EU — provide ...

Marfan syndrome is a genetic condition. It occurs because of a mutation (change) in one of your genes that develops before you’re born. It’s a type of connective tissue disorder, meaning it affects ...