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]
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- More Detailed Information (Found: 8 Resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates
- General
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Genetics Home Reference (GHR) contains a condition summary on Marfan syndrome. Click on the link to go to GHR and review this summary.
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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.
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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.
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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.
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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.
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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.
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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
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GeneReviews provides a comprehensive review describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on GeneReviews to view the article on Marfan syndrome.
- Support Groups (Found: 5 Resources)
Groups providing a wide range of services, supportive resources, and information
- Umbrella Organizations
- Disease-Specific Organizations
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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
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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.
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RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
- Clinical Trials & Research (Found: 2 Resources)
Resources where you may find research studies and clinical trials
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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.
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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.
- Services (Found: 2 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
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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
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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.
- NLM Gateway
A tool to search across multiple resources offered on the National Library of Medicine's Website
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The NLM Gateway allows users to search across multiple resources offered on the National Library of Medicine's Web site. Some of these resources may be duplicated in the list of links above. Click on the link to go to the NLM Gateway, and search by condition name.