Marfan Syndrome

Content provided by National Organization for Rare Disorders

Important

It is possible that the main title of the report Marfan Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

• Arachnodactyly
• Contractural Arachnodactyly
• Dolichostenomelia
• Marfanoid Hypermobility Syndrome

Disorder Subdivisions

• None

General Discussion

Marfan syndrome is a genetic disorder that affects connective tissue, which is the material between cells of the body that gives the tissues form and strength. Connective tissue is found all over the body and multiple organ systems may be affected in individuals with Marfan syndrome. The heart and blood vessels (cardiovascular), skeletal, and eye (ocular) systems are most often affected. Major symptoms include overgrowth of the long bones of the arms and legs, abnormal side-to-side curvature of the spine (scoliosis), indentation or protrusion of the chest wall (pectus), dislocation of the lenses of the eyes (ectopia lentis), nearsightedness (myopia), widening (aneurysm) and degeneration of the main artery that carries blood away from the heart (aorta), floppiness of the mitral valve (mitral valve prolapse) and backward flow of blood through the aortic and mitral valves (aortic and mitral regurgitation). The specific symptoms and the severity of Marfan syndrome vary greatly from case to case. Marfan syndrome is inherited as an autosomal dominant trait. Defects or disruptions (mutations) of the fibrillin-1 (FBN1) gene have been linked to Marfan syndrome and related disorders.

Resources

March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue

White Plains, NY 10605

Tel: (914)428-7100

Fax: (914)997-4763

Tel: (888)663-4637

Email: Askus@marchofdimes.com

Internet: http://www.marchofdimes.com



National Marfan Foundation

22 Manhasset Avenue

Port Washington, NY 11050

Tel: (516)883-8712

Fax: (516)883-8040

Tel: (800)862-7326

Email: staff@marfan.org

Internet: http://www.marfan.org



NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse

1 AMS Circle

Bethesda, MD 20892-3675

USA

Tel: 3014954484

Fax: 3017186366

Tel: 8772264267

TDD: 3015652966

Email: NIAMSinfo@mail.nih.gov

Internet: http://www.niams.nih.gov/Health_Info



Marfan Association UK

Rochester House

5 Aldershot Road

Fleet

Hampshire, GU51 3NG

United Kingdom

Tel: 01252 810472

Fax: 01252 810473

Email: marfan@tinyonline.co.uk

Internet: http://www.marfan.org.uk



Canadian Marfan Association

Centre Plaza Postal Outlet

128 Queen Street South

P.O. Box 42257

Mississauga

Ontario, L5M 4Z0

Canada

Tel: 9058263223

Fax: 9058262125

Tel: 8667221722

Email: info@marfan.ca

Internet: http://www.marfan.ca



MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network

150 Custer Court

Green Bay, WI 54301-1243

USA

Tel: 9203365333

Fax: 9203390995

Tel: 8773365333

Email: mums@netnet.net

Internet: http://www.netnet.net/mums/



Sjældne Diagnoser / Rare Disorders Denmark

Frederiksholms Kanal 2, 3rd Floor

Copenhagen K, 1220

Denmark

Tel: 45 33 14 00 10

Fax: 45 33 14 55 09

Email: mail@sjaeldnediagnoser

Internet: http://www.raredisorders.dk



Let Them Hear Foundation

1900 University Ave #101

East Palo Alto, CA 94303

Tel: (650)462-3143

Fax: (650)462-3143

Tel: (877)735-2929

Email: info@letthemhear.org

Internet: http://www.letthemhear.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  2/5/2008

Copyright  1984, 1985, 1987, 1988, 1989, 1990, 1992, 1994, 1995, 1997, 1999, 2002, 2003, 2007, 2008 National Organization for Rare Disorders, Inc.

Last updated:	February 05, 2008