Search results
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. [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]
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 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.
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.
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.
Harder-to-detect signs of Marfan syndrome include heart problems, especially those related to the aorta, the large blood vessel that carries blood away from the heart to the rest of the body.
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 (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.
Jan 23, 2023 · One of the most common inherited disorders affecting connective tissue, Marfan syndrome (MFS), is an autosomal dominant condition with a reported incidence of 1 in 3000 to 5000 individuals. The defect is in the FBN1 gene of chromosome 15, which produces fibrillin, a connective tissue protein.
