Marfan syndrome
Also known as Marfan's syndrome, MFS
genetic disorder of the connective tissue
AI overview
Marfan syndrome is a genetic disorder that affects connective tissue, which is the material that provides structure and support throughout the body. It matters because it can cause serious health problems affecting the bones, joints, heart, and eyes, making early diagnosis and management important for people who have it.
AI-generated from the Wikipedia summary — may contain errors.
Research
9,961 papers- Marfan syndrome revisited: From genetics to the clinic.ReviewRevista portuguesa de cardiologia · 2020Coelho SG, Almeida AGDOI: 10.1016/j.repc.2019.09.008
- Marfan syndrome.ReviewNursing · 2024Spencer MDOI: 10.1097/01.NURSE.0001007604.09204.9a
- Marfan's syndrome: an overview.ReviewSao Paulo medical journal = Revista paulista de medicina · 2010Yuan SM, Jing HDOI: 10.1590/s1516-31802010000600009
- What Is Marfan Syndrome?JAMA · 2023Connolly HM, Niaz T, Bowen JMDOI: 10.1001/jama.2023.3826
Article
Marfan syndrome (MFS) is a multi-systemic genetic disorder that affects the connective tissue. People with the condition are often 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. The lungs, eyes, bones, and the covering of the spinal cord are also commonly affected. The severity of the symptoms is variable.
MFS is caused by a mutation in FBN1, one of the genes that make fibrillin, which results in abnormal connective tissue. It is an autosomal dominant disorder. In about 75% of cases, it is inherited from a parent with the condition, while in about 25% it is a new mutation. Diagnosis is often based on the Ghent criteria, family history and genetic testing (DNA analysis).