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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.
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.
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.
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.
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.
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.
Jun 3, 2022 · 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.
It's able to detect an error that causes the syndrome in 99 in 100 of those affected. In most cases, a diagnosis of Marfan syndrome will be made from the physical features and symptoms of the syndrome. Find out more about genetic and genomic testing.
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.
What is Marfan syndrome? Marfan syndrome is a rare genetic disorder of the connective tissue, affecting the skeleton, lungs, eyes, heart and blood vessels. The condition is caused by a defect in the gene that tells the body how to make fibrillin-1, often from a parent who is also affected.
