Gourt > Health > Conditions and Diseases > Musculoskeletal Disorders > Connective Tissue > Marfan Syndrome
Marfan syndrome is a connective tissue disorder characterized by unusually long limbs. The disease also affects other bodily structures — including the lungs, eyes, heart and blood vessels — in less obvious ways. It is named for Antoine Marfan, the French pediatrician who first described it in 1896.
Marfan syndrome received great public attention when the musical RENT premiered in 1996. The day before the musical premiered off-Broadway, its writer, Jonathan Larson, died of an aortic dissection, which was determined to have been caused by Marfan syndrome.
Cause
Marfan syndrome is an autosomal dominant disorder that has been linked to the FBN1 gene on chromosome 15. FBN1 codes for a protein called fibrillin-1, which is essential for the formation of elastic fibers found in connective tissue. Marfan syndrome is also an example of a dominant negative mutation. Marfan syndrome is associated with incomplete penetrance, therefore not all persons carrying the mutation develop the disease. Without the structural support provided by fibrillin, many connective tissues are weakened, which can have severe consequences on support and stability. A related disease has been found in mice, and the study of mouse fibrillin synthesis and secretion, and connective tissue formation, has begun to further our understanding of Marfan syndrome in humans. For instance it has been found that simply reducing the level of normal fibrillin-1 causes the Marfan related disease in mice *. More on [ Marfan syndrome ]
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@albinokid @TLPF Tune to Sirius Sat Radio on Tues Nov 10th. Marfan syndrome featured on Rosie O'Donnel's talk show. Ann Reinking guest.
stefpark (stephanie parkinson) Fri, 06 Nov 2009 23:04:32 -0000
@albinokid @TLPF Tune to Sirius Sat Radio on Tues Nov 10th. Marfan syndrome featured on Rosie O'Donnel's talk show. Ann Reinking guest.
@badamanes Tune to Sirius Sat Radio on Tues Nov 10th. Marfan syndrome featured on Rosie O'Donnel's talk show. Ann Reinking guest.
stefpark (stephanie parkinson) Fri, 06 Nov 2009 23:00:13 -0000
@badamanes Tune to Sirius Sat Radio on Tues Nov 10th. Marfan syndrome featured on Rosie O'Donnel's talk show. Ann Reinking guest.
@Michael_Hoffman Tune to Sirius Sat Radio on Tues Nov 10th. Marfan syndrome featured on Rosie O'Donnel's talk show. Ann Reinking guest.
stefpark (stephanie parkinson) Fri, 06 Nov 2009 22:59:48 -0000
@Michael_Hoffman Tune to Sirius Sat Radio on Tues Nov 10th. Marfan syndrome featured on Rosie O'Donnel's talk show. Ann Reinking guest.
@ProtectDuPage @ajain @patientpower Tune in to Sirius Satlie Rosie Radio on Tue, Nov10th as Marfan syndrome is featured http://bit.ly/4rYjWC
stefpark (stephanie parkinson) Fri, 06 Nov 2009 22:43:04 -0000
@ProtectDuPage @ajain @patientpower Tune in to Sirius Satlie Rosie Radio on Tue, Nov10th as Marfan syndrome is featured http://bit.ly/4rYjWC
RT @NMF_Marfan Tune in to Sirius Satellite's Rosie Radio on Tuesday, November 10th as Marfan syndrome is featured o http://tl.gd/s02u
erikalilmama (erika gilliam) Fri, 06 Nov 2009 22:35:44 -0000
RT @NMF_Marfan Tune in to Sirius Satellite's Rosie Radio on Tuesday, November 10th as Marfan syndrome is featured o http://tl.gd/s02u
@marfgirl @ddchef mom Tune in to Sirius Satlie Rosie Radio on Tue, Nov10th as Marfan syndrome is featured http://bit.ly/4rYjWC
stefpark (stephanie parkinson) Fri, 06 Nov 2009 22:33:55 -0000
@marfgirl @ddchef mom Tune in to Sirius Satlie Rosie Radio on Tue, Nov10th as Marfan syndrome is featured http://bit.ly/4rYjWC
American Heart Association - Marfan's Syndrome - Includes definition, problems with blood vessels and cardiac valves, treatment, lifestyle changes, and links to other heart related conditions.
Meta Description: [ The Marfan syndrome is a connective tissue disorder. Connective tissue provides substance and support to tendons, ligaments, blood vessel walls, cartilage, heart valves and many other structures. In the Marfan syndrome, the chemical makeup of the connective tissue isn't normal. As a result, many ... ]
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Canadian Marfan Association - Information, articles, events, a patient survey, and products. Also contains an article on Pharaoh Akhenaten who was believe to have the disease.
Central Ohio Marfan Support Group - Focuses on the support group with links to information about the disease. Includes a calendar of events for meetings.
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Guide to Marfans Syndrome - Features forums, @marfanssyndrome.net email addresses and contains symptoms as well as guestbooks for both doctors and patients, a chat room and scheduled chats with professionals.
International Federation of Marfan Syndrome Organizations - A global information center providing links to Organizations around the world.
Meta Description: [ A global information center providing links to Marfan Syndrome Organizations aroud the world ]
Life and Issues of Marfan's Syndrome - Personal site by which describes the pathology and gives a bit of advice.
Meta Description: [ This page outlines my own experience with Marfan Syndrome, describes some of the pathology, and gives a bit of advice for anyone dealing with it. ]
Living With Marfans - This site is an in depth look into the life of someone who has Marfan Syndrome and what they have learned along the way.
Meta Description: [ Living with Marfan Syndrome is what this site is all about. The life story of Jon, and how he has learned to cope over the years. ]
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Marfan Association UK - The support association in the UK for this genetic condition which can affect the heart, eyes and connective tissue.
Meta Description: [ The support association in the UK for this genetic condition which can affect the heart, eyes and connective tissue. ]
Marfan Support and Information - Support group in New South Wales, Australia.
Meta Description: [ Homepage of Marfan Support and Information, NSW Australia ]
Marfan Syndrome - A Question-Answer format page of information.
Meta Description: [ Read about Marfan syndrome, a hereditary condition affecting connective tissue. A person with Marfan syndrome may exhibit the following symptoms and characteristics: dislocation of one or both lenses of the eye; a protruding or indented breastbone; scoliosis; flat feet; aortic dilatation; dural e... ]
Marfan Syndrome - Comprehensive guide to this connective tissue disease.
Meta Description: [ Your Genes, Your Health, DNA Learning Center's multimedia guide to genetic,
inherited disorders: Marfan syndrome, autosomal dominant, genetic disorder ]
Marfan Syndrome - Online chapter from The Merck Manual of Medical Information.
Marfan Syndrome Forum - Describes the author's personal experiences with this Syndrome and asks readers to share their experiences. Also include links for further research.
Marfan Syndrome: Does Diet Play a Role - Explores the idea that the disease is affected not by the fibrillin gene, but by one's diet.
Meta Description: [ Reviews the possible role of diet as a factor in Marfan syndrome. Questions the theory that fibrillin mutations are the only factor in the disorder. ]
Marfan-List - Information about an e-mail mailing list. Also includes links to other online support groups.
Meta Description: [ Our Extreme Hosting comes with all the tools a features you need to create a powerful, visually stunning site ]
Marfans Research Foundation - Irish charity with information on fund raising activities and the condition.
Meta Description: [ This is the website of the Marfans Research Foundation, located in south-east Ireland ]
MFS Type 1 Fibrillin Gene - A comprehensive site including major resources listed as well as genetic information.
National Marfan Foundation - Providing accurate and timely information about the disorder to patients, family members and physicians.
Meta Description: [ The National Marfan Foundation is dedicated to saving lives, and improving the quality of life for individuals and families affected by the Marfan syndrome and related disorders. Our website has information on support services for Marfan syndrome, research, education and information for medical ... ]
Polish Marfan Association - General information including dealing with pregnancy with the disease. Also has contact information for the association and links to other organizations.
Questions and Answers about Marfan Syndrome - From the National Institutes of Health.
Slovak Marfan Association - The association provides a network of patients, relatives and doctors in Slovakia, informs and helps patients to improve the medical care.
Meta Description: [ The Marfan Association provides a network of patients, relatives and doctors in Slovakia, helps to improve the medical care. The Marfan syndrome is a heritable disorder of connective tissue ]
South African Marfan Syndrome Organisation - Information in English and Afrikaans,including an interactive diagnosis tool that allows for an accurate diagnosis.
Meta Description: [ Home page of the South African Marfan Syndrome Organisation ]
Swedish Marfan Association - Here you can find plenty of information the disease including symptoms and other disorders that are similar to Marfan's. Also contains information about the Swedish Association.
The Mystery of Akhenaten: Genetics or Aesthetics? - A history of the pharoah along with theories applied to what he may have had, including Marfan's.
Meta Description: [ This is a discussion of the supposed pathology of the Pharaoh Akhenaten. Was it Marfan's Syndrome or artistic style? ]
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Theresa E. Pageau - A Memorial Tribute - A tribute to a patient with this disease accompanied by information and links related to donating.
Univ. of Washington - Marfan Syndrome - What the disease is and includes the impacts on daily life.
Meta Description: [ The Department of Orthopaedics is actively involved in quality patient care, teaching, and research concerning bone and joint problems. Special areas of expertise include foot and ankle, hand and microvascular, hip and knee, arthritis, sports medicine. ]
Yahoo! Support Group - Started by a person with the syndrome, this site offers support for any person with the disease as well as family of the person.
Meta Description: [ Marfan_Syndrome: Marfan's Syndrome ]
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