Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • Marfanoid hypermobility syndrome
  • Marfan syndrome type 1
  • Contractural arachnodactyly
  • Increased height, long limbs & digits, chest deformity, joint laxity, scoliosis ,thoracic lordosis,a highly arched palate with crowding of teeth
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Home > Genetic & Rare Diseases Information Center (GARD) > Marfan syndrome



Marfan syndrome
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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).

Marfan syndrome is sometimes classified as type I or type II, although this classification system is not universally accepted. When used, type I or classic Marfan syndrome refers to the most common form of this disorder, characterized by the features described above. Type II Marfan syndrome is less common. It is similar to classic Marfan syndrome except eye problems (such as ectopia lentis) are absent, and the genetic cause is different.[1]

References
  1. Marfan Syndrome. Genetics Home Reference Web site. 2006 Available at: http://ghr.nlm.nih.gov/condition%3Dmarfansyndrome. Accessed September 29, 2009.

Questions & Answers (Found 3 Questions)
A list of questions from the public on rare and/or genetic diseases that have been answered by the Genetic and Rare Disease Information Center. Click on each question to find the answer.
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For more information about Marfan syndrome click on the boxes below:
More Detailed Information NLM Gateway Services Scientific Conferences Support Groups Clinical Trials & Research
 General | Management Guidelines
More Detailed Information (Found 10 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates

  • General

    • Genetics Home Reference (GHR) contains a condition summary on Marfan syndrome. Click on the link to go to GHR and review this summary.
    • MedlinePlus, a Web site designed by the National Library of Medicine Web site to help you research your health questions, provides more information about this topic. Click on the link to view this information.
    • The National Heart, Lung, and Blood Institute (NHLBI) provides leadership for a national program in diseases of the heart, blood vessels, lung, and blood; blood resources; and sleep disorders. Since October 1997, the NHLBI has also had administrative responsibility for the NIH Woman's Health Initiative. Click on the link to view information on this topic.
    • The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.
    • The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) support research into the causes, treatment, and prevention of arthritis and musculoskeletal and skin diseases, the training of basic and clinical scientists to carry out this research, and the dissemination of information on research progress in these diseases. Click on the link to view information on this topic.
    • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
    • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Marfan syndrome. Click on the link to go to OMIM and review these resources.
    • Orphanet is a database dedicated to information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
    • PubMed is a searchable database of medical literature and lists journal articles that discuss Marfan syndrome. Click on the link to view a sample search on this topic.
  • Management Guidelines

    • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
 
NLM Gateway (Found 1 resource)
A tool to search across multiple resources offered on the National Library of Medicine's Website

    • NLM Gateway allows users to search many resources offered on the National Library of Medicine's Web site at once to quickly find more information about this condition. Some of the resources may be a duplicate of the resources listed on this page. To search NLM Gateway, click on the link; the condition name will already be in the search box, so you can just click the “Search” button.
 Healthcare Professional Online Directory | Testing | Genetic Services
Services (Found 3 resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories

  • Healthcare Professional Online Directory

    • The Marfan Syndrome Foundation can help you find a doctor who knows about Marfan syndrome. Click on the Marfan Syndrome Foundation to learn more.
  • Testing

    • GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
  • Genetic Services

    • We recommend that you discuss this information and your concerns with a genetics professional. The following online resources can help you find a genetics professional in your community:

       * GeneClinics - A searchable directory of US and international genetics and prenatal diagnosis clinics. To locate genetics clinics in the United States, go to the following link and click on 'Clinic Directory' to find a genetic service close to you. 

        * ResourceLink - A database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty. Hosted by the National Society of Genetic Counselors.
 
Scientific Conferences (Found 1 resource)
Completed and upcoming scientific conferences and programs that have been sponsored by the National Institutes of Health

  • Past Conferences

    • 25th Annual National Marfan Foundation Conference, August 6, 2009 - August 9, 2009
      Location: Mayo Clinic, Rochester, MN
      Description: Anticipated goals of this meeting are to 1) Improve public awareness of Marfan syndrome  2) Improve patients’ knowledge of their condition and therapeutic options available to them (medical, social, and psychological) 3) Bring patients together with specialists from multiple disciplines including medical genetics, cardiology, cardiac surgery, orthopedics, and ophthalmology
 Umbrella Organizations | Disease-Specific Organizations | Live Chat/E-mail Lists | Parent Matching Organizations
Support Groups (Found 7 resources)
Groups providing a wide range of services, supportive resources, and information

  • Umbrella Organizations

  • Disease-Specific Organizations

    • Canadian Marfan Association
      Centre Plaza Postal Outlet
      128 Queen Street South
      P.O. Box 42257
      Mississauga Ontario L5M 4Z0
      Canada
      Toll-free: 1-866-722-1722
      Telephone:  905-826-3223
      Fax: 905-826-2125
      E-mail: info@marfan.ca
      Web site: www.marfan.ca
    • National Marfan Foundation
      22 Manhasset Avenue
      Port Washington, NY 11050
      Phone: 800-8-MARFAN (800-862-7326); 516-883-8712
      Fax: 516-883-8040
      Email: staff@marfan.org
      Web: http://www.marfan.org
  • Live Chat/E-mail Lists

    • The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
    • RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
  • Parent Matching Organizations

 
Clinical Trials & Research (Found 2 resources)
Resources where you may find research studies and clinical trials

    • ClinicalTrials.gov lists trials that are studying or have studied Marfan syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
    • GeneTests lists laboratories offering research genetic testing for this condition. Research genetic tests may be used to find disease-causing genes, learn how genes work, or aid in the understanding of a genetic disorder. In many cases test results are not shared with the patient or physician. Talk to your health care provider or a genetic professional to learn more about research testing for this condition.

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