Alternative Names
Marfan's syndrome; MFS
Symptoms & Characteristics
Marfan syndrome is a genetic condition that affects the connective tissue in the human body. Connective tissues are proteins that support skin, bones, blood vessels and other organs.
Marfan syndrome can be mild to severe. The symptoms vary widely in severity, timing of onset, and rate of progression. Common characteristics and symptoms may include:
Skeletal findings: Tall and slender, elongated fingers and toes (arachnodactyly), an arm span that exceeds body height, unusually flexible joints, a long and narrow face, a highly arched roof of the mouth, crowded teeth, an abnormal curvature of the spine (scoliosis), and either a sunken chest (pectus excavatum) or a protruding chest (pectus carinatum).
Lung findings: Breathing problems, such as collapsed lungs (spontaneous pneumothorax) and early emphysema.
Eye findings: Vision problems caused by a dislocated lens (ectopia lentis) in one or both eyes, nearsightedness (myopia), retinal detachment, clouding of the lens (cataract), and increased pressure within the eye (glaucoma).
Heart and aorta findings: Leaks in valves that control blood flow through the heart can cause shortness of breath, fatigue, and an irregular heartbeat felt as skipped or extra beats (palpitations). If leakage occurs, it usually affects the mitral valve or the aortic valve. In addition, the aorta can weaken and stretch, which may lead to a bulge in the blood vessel wall (called an aneurysm). Stretching of the aorta may cause the aortic valve to leak, which can lead to a sudden tearing of the layers in the aorta wall (called aortic dissection). Aortic aneurysm and dissection can be life threatening.
Treatment
There is no cure for Marfan syndrome. However, early diagnosis, routine surveillance and treatment can help to manage some of the symptoms and sometimes prevent related problems.
How Common Is It?
About 1 in 5,000 to 1 in 10,000 people worldwide are affected with Marfan syndrome.
Genetics & Inheritance
Marfan syndrome is caused by mutations in a gene called FBN1, which is located on chromosome 15 at the location q21.1.
- The FBN1 gene encodes for a protein called fibrillin 1. Fibrillin 1 is part of connective tissue.
We all have two copies of the FBN1 gene - one from each parent. In Marfan syndrome, having a mutation in a single gene copy is sufficient enough to cause the disease. This is called autosomal dominant inheritance.
- An affected person has a 50% chance with each pregnancy to have an affected child.
- In most cases, Marfan syndrome is inherited from an affected parent. However, approximately 25-30% of affected people have no family history, and their condition is a result of a sporadic, new ("de novo") mutation.
Other genetic conditions can have characteristics that overlap with Marfan syndrome. For example, mutations in the TGFBR2 gene can cause a disorder with some Marfan-like features called Loeys-Dietz syndrome. A genetic consultation with a trained genetic professional is important for a complete evaluation, accurate diagnosis, as well as discussion of the benefits and limitations of testing and recurrence risk.
Genetic Testing
Clinical genetic testing for Marfan syndrome is available through an in person genetic consultation for people who are considered at risk. Use our find a genetic professional directory to locate a trained genetic professional in your area.
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