Marfan Syndrome

National Organization for Rare Disorders, Inc.

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

  • MFS

Disorder Subdivisions

  • Marfan Syndrome Type I
  • Marfan Syndrome Type II

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)997-4488
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: (301)495-4484
Fax: (301)718-6366
Tel: (877)226-4267
TDD: (301)565-2966
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: +44 (0) 1252 810472
Fax: +44 (0) 1252 810473
Email: marfan@tinyonline.co.uk
Internet: http://www.marfan-association.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 National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
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

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org

Let Them Hear Foundation
1900 University Avenue, Suite 101
East Palo Alto, CA 94303
Tel: (650)462-3143
Fax: (650)462-3144
Tel: (877)735-2929
Email: info@letthemhear.org
Internet: http://www.letthemhear.org

For a Complete Report

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

related physicians

related services

Bon Secours International| Sisters of Bon Secours USA| Bon Secours Health System

This information does not replace the advice of a doctor. Healthwise disclaims any warranty or liability for your use of this information. Your use of this information means that you agree to the Terms of Use. Privacy Policy. How this information was developed to help you make better health decisions.