Also called: Also called: Arachnodactyly
Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels and other organs. One of these proteins is fibrillin. A problem with the fibrillin gene causes Marfan syndrome.
Marfan syndrome can be mild to severe, and the symptoms can vary. People with Marfan syndrome are often very tall, thin and loose jointed. Most people with Marfan syndrome have heart and blood vessel problems, such as a weakness in the aorta or heart valves that leak. They may also have problems with their bones, eyes, skin, nervous system and lungs.
National Institute of Arthritis and Musculoskeletal and Skin Diseases
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Genetics Home Reference: Marfan syndrome
(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=marfansyndrome
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Marfan Syndrome(National Heart, Lung, and Blood Institute) - http://www.nhlbi.nih.gov/health/dci/Diseases/mar/mar_whatis.html
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What Is Marfan Syndrome?
(National Institute of Arthritis and Musculoskeletal and Skin Diseases) - http://www.niams.nih.gov/Health_Info/Marfan_Syndrome/marfan_syndrome_ff.asp
Also available in Spanish http://www.niams.nih.gov/Portal_En_Espanol/Informacion_de_Salud/Sindrome_de_Marfan/default.asp
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Learning about Marfan Syndrome(National Human Genome Research Institute) - http://www.genome.gov/19519224
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Marfan Syndrome(March of Dimes Birth Defects Foundation) - http://www.marchofdimes.com/professionals/14332_1216.asp
Also available in Spanish http://www.nacersano.org/centro/9388_9978.asp
- Marfan Syndrome(Mayo Foundation for Medical Education and Research) - http://www.mayoclinic.com/print/marfan-syndrome/DS00540/DSECTION=all&METHOD=print
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Questions and Answers about Marfan Syndrome(National Institute of Arthritis and Musculoskeletal and Skin Diseases) - http://www.niams.nih.gov/Health_Info/Marfan_Syndrome/default.asp
- About Marfan Syndrome: Diagnosis(National Marfan Foundation) - http://www.marfan.org/nmf/GetContentRequestHandler.do?menu_item_id=3
- Molecular Testing for Marfan Syndrome(National Marfan Foundation) - http://www.marfan.org/nmf/GetSubContentRequestHandler.do?sub_menu_item_content_id=7&menu_item_id=42
- What Treatment Options Are Available?(National Marfan Foundation) - http://www.marfan.org/nmf/GetContentRequestHandler.do?menu_item_id=7
- Cardiac Concerns(National Marfan Foundation) - http://www.marfan.org/nmf/GetSubContentRequestHandler.do?sub_menu_item_content_id=15&menu_item_id=42
- Dental and Orthodontic Concerns(National Marfan Foundation) - http://www.marfan.org/nmf/GetSubContentRequestHandler.do?sub_menu_item_content_id=80&menu_item_id=56
- Endocarditis Prophylaxis for People with Marfan Syndrome(National Marfan Foundation) - http://www.marfan.org/nmf/GetSubContentRequestHandler.do?sub_menu_item_content_id=29&menu_item_id=22
- Living with the Marfan Syndrome: Dural Ectasia(National Marfan Foundation) - http://www.marfan.org/nmf/GetContentRequestHandler.do?menu_item_id=25
- Living with the Marfan Syndrome: Lungs(National Marfan Foundation) - http://www.marfan.org/nmf/GetContentRequestHandler.do?menu_item_id=94
- Loeys-Dietz Syndrome(National Marfan Foundation) - http://www.marfan.org/nmf/GetContentRequestHandler.do?menu_item_id=84
- Ocular Concerns(National Marfan Foundation) - http://www.marfan.org/nmf/GetSubContentRequestHandler.do?sub_menu_item_content_id=10&menu_item_id=42
- Orthopedic Concerns(National Marfan Foundation) - http://www.marfan.org/nmf/GetSubContentRequestHandler.do?sub_menu_item_content_id=8&menu_item_id=42
- Physical Education and Activity Guidelines(National Marfan Foundation) - http://www.marfan.org/nmf/GetSubContentRequestHandler.do?sub_menu_item_content_id=43&menu_item_id=7
- Related Disorders: Introduction(National Marfan Foundation) - http://www.marfan.org/nmf/GetContentRequestHandler.do?menu_item_id=78
- What Is Beals Syndrome?(National Marfan Foundation) - http://www.marfan.org/nmf/GetContentRequestHandler.do?menu_item_id=86
- What Is Marfan Syndrome?(Dolan DNA Learning Center) - Requires Flash Player - http://www.yourgenesyourhealth.org/marfan/whatisit.htm
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ClinicalTrials.gov: Marfan Syndrome(National Institutes of Health) - http://clinicaltrials.gov/search/open/condition=%22Marfan+Syndrome%22
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Genetics Home Reference: Marfan syndrome(National Library of Medicine) - http://ghr.nlm.nih.gov/condition=marfansyndrome
References and abstracts from MEDLINE/PubMed (National Library of Medicine)
- Article: Incidence of aortic root dilatation in pectus excavatum and its... - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=18762608&tool=MedlinePlus
- Article: Report of the National Heart, Lung, and Blood Institute and... - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=18695204&tool=MedlinePlus
- Article: Fatal aortic dissection in a patient with a family history... - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=Retrieve&db=pubmed&dopt=AbstractPlus&list_uids=18669769&tool=MedlinePlus
- Marfan Syndrome -- see more articles - http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=search&db=pubmed&term=marfan+syndrome[majr]+AND+humans[mh]+AND+english[la]+NOT+(letter[pt]+OR+editorial[pt])&doptcmdl=summary&cmd_current=Limits&pmfilter_EDatLimit=last+1+Year&tool=MedlinePlus
- Laboratory Directory-GeneReviews(University of Washington) - http://www.genetests.org/servlet/access?id=8888891&key=xW0l31Z2a4hTc&fcn=y&fw=XPF9&filename=/labsearch/searchdztest.html
- Support Services: Local Contacts(National Marfan Foundation) - http://www.marfan.org/nmf/GetContentRequestHandler.do?menu_item_id=35
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National Institute of Arthritis and Musculoskeletal and Skin Diseases - http://www.niams.nih.gov/
Also available in Spanish http://www.niams.nih.gov/Portal_En_Espanol/
- National Marfan Foundation - http://www.marfan.org/
- Marfan Syndrome(Nemours Foundation) - http://kidshealth.org/kid/health_problems/birth_defect/marfan.html
- Pediatric Concerns(National Marfan Foundation) - http://www.marfan.org/nmf/GetSubContentRequestHandler.do?sub_menu_item_content_id=5&menu_item_id=42
- Marfan Syndrome(Nemours Foundation) - http://kidshealth.org/teen/diseases_conditions/genetic/marfan.html
- Obstetric Concerns(National Marfan Foundation) - http://www.marfan.org/nmf/GetSubContentRequestHandler.do?sub_menu_item_content_id=79&menu_item_id=56
- Genetics/Birth Defects - http://www.nlm.nih.gov/medlineplus/geneticsbirthdefects.html
The primary NIH organization for research on Marfan Syndrome is the National Institute of Arthritis and Musculoskeletal and Skin Diseases - http://www.niams.nih.gov/