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  1. Frequency. 1 in 5,000–10,000 [4] Marfan syndrome ( MFS) is a multi-systemic genetic disorder that affects the connective tissue. [6] [7] [1] Those with the condition tend to be tall and thin, with long arms, legs, fingers, and toes. [1] They also typically have exceptionally flexible joints and abnormally curved spines. [1]

  2. Marfan Syndrome is a genetic disorder that causes defective connective tissue. This can effect the skeleton, heart blood vessels, eyes and lungs. Normally, the interstitial space of body tissue is full of microfibrils. This is strong rope like structure that provide tissue integrity and common connective tissue. The main component of ...

  3. Mar 22, 2024 · 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. The damage caused by Marfan syndrome can be mild or severe. If your aorta — the large blood vessel that carries blood from your heart to the rest of your ...

  4. The protein that plays a role in Marfan syndrome is called fibrillin-1. 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 ...

  5. www.nhs.uk › conditions › marfan-syndromeMarfan syndrome - NHS

    Treatment. 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.

  6. 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 ...

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  8. 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 ...

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