Marfan syndrome

Other Names: Contractural arachnodactyly See more

Categories: Congenital and Genetic Diseases, Connective tissue diseases, Eye diseases

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Description

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). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new ( de novo ) mutation. Treatment is based on the signs and symptoms in each person.

Source: GARD Last updated on 05-01-20

Symptoms

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 of Marfan syndrome include:

Unusually flexible joints
Long and narrow face
Highly arched roof of the mouth
Crowded teeth
Scoliosis
Sunken chest (pectus excavatum) or a protruding chest (pectus carinatum)
Eye issues: 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.

Other signs and symptoms may include:

Stretch marks in the skin
Abdominal or inguinal hernia, in which a bulge develops that contains part of the intestines
Lung problems (rarely).

Last updated on 05-01-20

Symptoms and their Known Frequencies

We're currently performing maintenance on our symptoms information from GARD. Please check back at a later time for updates.

How is Marfan syndrome inherited?

Marfan syndrome is inherited in an autosomal dominant manner. All individuals inherit two copies of each gene. In autosomal dominant conditions, an individual has a disease-causing mutation in only one copy of the gene that causes the person to have the disease. The mutation can be inherited from a parent, or can happen by chance for the first time in an individual.

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.

At least 25 percent of Marfan syndrome cases result from a new (de novo) mutation in the FBN1 gene. These cases occur in people with no family history of the disorder.

Last updated on 05-01-20

Name: The Marfan Foundation 22 Manhasset Avenue
Port Washington, NY, 11050 , United States Phone: +1-516-883-8712 Toll Free: 1-800-8-MARFAN (800-862-7326) Fax : +1-516-883-8040 Email: https://www.marfan.org/secure/ask Url: https://www.marfan.org/

Name: Genetic Aortic Disorders Association Canada GADA Canada Centre Plaza Postal Outlet 128 Queen Street South
P.O. Box 42257 Mississauga Ontario L5M 4Z0
Canada Phone: 905-826-3223 Toll Free: 866-722-1722 Fax : 905-826-2125 Email: info@gadacanada.ca Url: http://www.gadacanada.ca/

Name: Scoliosis Research Society 555 East Wells Street, Suite 1100
Milwaukee, WI, 53202-3823 , United States Phone: 414-289-9107 Fax : 414-276-3349 Email: info@srs.org Url: http://www.srs.org

Name: March of Dimes 1275 Mamaroneck Avenue
White Plains, NY, 10605, United States Phone: 914-997-4488 Toll Free: 888-663-4637 Fax : 914-997-4763 Email: http://www.marchofdimes.com/contactus.html Url: http://www.marchofdimes.com/

Name: Hypermobility Syndromes Association HMSA 49 Greek Street
London, WD1 4EG, United Kingdom Phone: 033 3011 6388 Email: http://hypermobility.org/contact-us/ Url: http://hypermobility.org/

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Marfan syndrome

Table of Contents

Description

Symptoms

What are the signs and symptoms of Marfan syndrome?

Symptoms and their Known Frequencies

How is Marfan syndrome inherited?

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Marfan syndrome

Table of Contents

Description

Symptoms

What are the signs and symptoms of Marfan syndrome?

Symptoms and their Known Frequencies

Inheritance

How is Marfan syndrome inherited?

Organizations

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Join the RareGuru Community