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Genetic and Rare Diseases Information Center (GARD)

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Marfan syndrome


Other Names for this Disease
  • Contractural arachnodactyly
  • Marfan syndrome type 1
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Overview



What is Marfan syndrome?

What are the signs and symptoms of Marfan syndrome?

How is Marfan syndrome inherited?


What is Marfan syndrome?

Marfan syndrome is a disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta).[1]
Last updated: 2/25/2011

What are the signs and symptoms of Marfan syndrome?

The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression. Affected individuals often are tall and lean, have elongated fingers and toes (arachnodactyly), and have an arm span that exceeds body height. Other common features include unusually flexible joints, a long and narrow face, a highly arched roof of the mouth and crowded teeth, an abnormal curvature of the spine (scoliosis), and either a sunken chest (pectus excavatum) or a protruding chest (pectus carinatum). About half of people with Marfan syndrome have a dislocated lens (ectopia lentis) in one or both eyes, and most have some degree of nearsightedness (myopia). Clouding of the lens (cataract) may occur in mid adulthood, and increased pressure within the eye (glaucoma) occurs more frequently than in people without Marfan syndrome.

Most people with Marfan syndrome have abnormalities of the heart and the aorta. 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, which is a valve between two chambers of the heart, or the aortic valve that regulates blood flow from the heart into the aorta. The first few inches of the aorta can weaken and stretch, which may lead to a bulge in the blood vessel wall (an aneurysm). The increased size of the aorta may cause the aortic valve to leak, which can lead to a sudden tearing of the layers in the aorta wall (aortic dissection). Aortic aneurysm and dissection can be life threatening. [2]
Last updated: 2/25/2011

How is Marfan syndrome inherited?

Marfan syndrome is inherited in an autosomal dominant manner. All individuals inherit 2 copies of each gene. In autosomal dominant conditions, an individual only has to have 1 mutation in the gene to develop the condition. The mutation can be inherited from a parent, or can happen by chance for the first time in an individual.[3]

Each child of an individual with Marfan syndrome has a 50% chance of inheriting the mutation and the disorder. Offspring who inherit the mutation will have Marfan syndrome, although they could be more or less severely affected than their parent.[3]

Last updated: 2/25/2011

References
  1. Marfan Syndrome. Genetics Home Reference Web site. 2006; http://ghr.nlm.nih.gov/condition%3Dmarfansyndrome. Accessed 9/29/2009.
  2. What Are the Signs and Symptoms of Marfan Syndrome?. National Heart Lung and Blood Institute. 2010; http://www.nhlbi.nih.gov/health/health-topics/topics/mar/signs.html. Accessed 10/15/2013.
  3. Harry C. Dietz, MD. Marfan syndrome. GeneReviews. 2011; http://www.ncbi.nlm.nih.gov/books/NBK1335/. Accessed 10/15/2013.