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Marfan syndrome is a disorder of the body's connective tissues, a group of tissues that maintain the structure of the body and support internal organs and other tissues. Children usually inherit the disorder from 1 of their parents. Some people are only mildly affected by Marfan syndrome, while others develop more serious symptoms. ...
Marfan syndrome (MFS) is a multi-systemic genetic disorder that affects the connective tissue. Those with the condition tend to be tall and thin, with long arms, legs, fingers, and toes. They also typically have exceptionally flexible joints and abnormally curved spines. The most serious complications involve the heart and aorta, with an increased risk of mitral valve prolapse and aortic aneurysm.
Symptoms Marfan syndrome. Symptoms. Marfan syndrome can affect many parts of the body, including the skeleton, eyes, and heart and blood vessels (cardiovascular system). The severity of the symptoms can vary between individuals with Marfan syndrome. Some people experience a few mild symptoms, whereas others experience more severe symptoms.
Marfan syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1. This mutation results in an increase in a protein called transforming growth factor beta, or TGF-β. The increase in TGF-β causes problems in connective tissues throughout the body, which in turn creates the features and medical ...
Mar 22, 2024 · Marfan syndrome is an inherited disorder that affects connective tissue — the fibers that support and anchor your organs and other structures in your body. Marfan syndrome most commonly affects the heart, eyes, blood vessels and skeleton. People with Marfan syndrome are usually tall and thin with unusually long arms, legs, fingers and toes.
Marfan syndrome can be difficult to diagnose because the signs and symptoms can vary from person to person. In most cases, a diagnosis will be based on a thorough physical examination and a detailed assessment of a person's medical and family history. There are a number of criteria that your GP or geneticist (a gene specialist) will measure ...
Marfan syndrome (also called Marfan’s syndrome or Marfans syndrome) is a condition that affects your connective tissue. Connective tissue holds your body together and provides support to many structures throughout your body. In Marfan syndrome, the connective tissue isn’t normal. As a result, several body systems are affected, including ...
Marfan syndrome is a genetic disorder that changes the proteins that help make healthy connective tissue. This leads to problems with the development of connective tissue, which supports the bones, muscles, organs, and tissues in your body. Mutations (changes) to a specific gene cause Marfan syndrome, and most people inherit the disorder from ...
Marfan syndrome affects the cardiovascular system by making the aorta (an artery that begins at the heart and is the largest in the human body) wider and more fragile. This can lead to leakage of the aortic valve or tears in the aortic wall, which may require surgery to repair. Additionally, the heart’s mitral valve may leak and an irregular ...
Feb 29, 2024 · Marfan syndrome is an autosomal dominant inherited disorder of connective tissue characterised by loss of elastic tissue, resulting in musculoskeletal deformities, lens subluxation (dislocation), aortic dissection, and root aneurysms. Multidisciplinary team of consultants confirm the diagnosis clinically and genetically using fibrillin-1 gene ...
