How much do you know about Marfan syndrome?

• Marfan syndrome is a genetic disorder that affects the connective tissue.
• Symptoms include being tall and thin with long limbs, flexible joints, and curved spines.
• The heart and aorta are at risk, with an increased risk of mitral valve prolapse and aortic aneurysm.
• Diagnosis is based on the Ghent criteria.
• There is no known cure, but management includes medication and surgery.
• Marfan syndrome affects about 1 in 5,000 to 1 in 10,000 people worldwide.
• Skeletal, ocular, cardiovascular, and nervous systems can be affected.
• Marfan syndrome is caused by a mutation in the FBN1 gene, which encodes fibrillin 1.
• It is an autosomal dominant disorder with a 50% chance of being passed on to children.
• Complete penetrance has been definitively documented, and reducing the level of normal fibrillin 1 causes a Marfan-related disease in mice.
• Marfan syndrome is a genetic disorder that affects the body's connective tissue.
• The disorder is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1.
• Fibrillin-1 plays a role in the formation of elastic fibers, which provide strength and flexibility to tissues such as the skin, ligaments, and blood vessels.
• Marfan syndrome can affect many parts of the body, including the heart, eyes, skeleton, and lungs.
• The disorder is often difficult to diagnose in children, as symptoms typically do not appear until puberty.
• There is no cure for Marfan syndrome, but life expectancy has increased significantly over the last few decades.
• Treatment involves addressing each issue as it arises and may include medication, surgery, and regular checkups to monitor the health of the heart valves and aorta.
• Physical activity is recommended but should be limited for those with significant aortic dilation.
• Women with Marfan syndrome are at significant risk of aortic dissection during pregnancy and should receive thorough assessment and monitoring.
• Prenatal testing can be performed to determine if the condition has been inherited in a child.
• Marfan syndrome affects males and females equally.
• The condition shows no ethnic or geographical bias.
• Approximately 1 in 5,000 to 10,000 individuals have Marfan syndrome.
• The syndrome was first described by Antoine Marfan in 1896.
• The gene linked to the disease was identified in 1991 by Francesco Ramirez.
• Famous people who had Marfan syndrome include Abraham Lincoln, Michael Phelps, and Jonathan Larson.
• Speculative historical figures and celebrities are often associated with the syndrome.
• There is a bibliography and references section for further reading.
• There are external links available for additional information.
• No treatment or cure for Marfan syndrome currently exists.

Think you know about Marfan syndrome? Test your knowledge with our quiz! This genetic disorder affects the connective tissue and can cause a range of symptoms, including being tall and thin with long limbs, flexible joints, and curved spines. It can also affect the heart, eyes, skeleton, and lungs. Learn more about the diagnosis, management, and famous people who have had Marfan syndrome. Take our quiz and see how much you know about this fascinating but often misunderstood condition.