Marfan syndrome type 2

Common Name(s)

Marfan syndrome type 2, Loeys-Dietz syndrome type 2

Marfan syndrome type 2 (MFS2), also known as Loeys-Dietz syndrome type 2 (LDS2), is a genetic disorder affecting the body’s connective tissues, which help provide strength and flexibility to many parts of the body, including muscles, blood vessels, heart valves, and bones. The main feature of MFS2 affects the heart. Specifically, the main artery carrying blood away from the heart (aorta) can widen over time (aortic aneurysm). This widening can cause the vessel to tear (aortic dissection). Other features of Marfan syndrome can include a split (bifid) uvula, a small jaw (micrognathia) that is set further back than normal (retrognathia), a sunken or protruding chest, flat feet, loose or flexible joints, crowded teeth, stretch marks, and an opening in the roof of the mouth (cleft palate). Unlike Marfan syndrome type 1 (MFS1), MFS2 does not affect the eyes or cause major bone (skeletal) abnormalities.

MFS2 is caused by a mutation (change) in the TGFBR2 gene. This gene acts as an instruction for the body to make a protein that is important for cell signaling, which helps with growth and development of tissues in the body. When a person has a mutation in the TGFBR2 gene, it leads to abnormal development of connective tissues in the body, causing the features of this condition. MFS2 is inherited in an autosomal dominant way, which means a mutation in only one of the two copies of the TGFBR2 gene a person has is enough to cause the condition.

MFS2 is suspected in a person with an enlarged aorta who does not have other symptoms that are found in MFS1. The diagnosis is confirmed with genetic testing. Although there is no cure for Marfan syndrome, there are options to address many of the symptoms. In some cases, surgery may be needed. If your child has been diagnosed with MFS2, talk with their doctor about all treatment options. Support groups are available for support and more information.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Marfan syndrome type 2" for support, advocacy or research.

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Canadian Marfan Association

Increasing awareness, saving lives, and improving the quality of life for patients, their families, and medical professionals affected by Marfan syndrome, genetic aortic disorders, and related connective tissue disorders through national programs of education, support, and research.

Last Updated: 22 Jan 2013

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Loeys Dietz Syndrome Foundation

The Loeys-Dietz Syndrome Foundation (LDSF) is a 501(c)3 nonprofit organization dedicated to bringing greater awareness to Loeys-Dietz syndrome (LDS) by encouraging education, fostering research and providing support for those impacted by LDS.

Last Updated: 5 May 2014

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Marfan syndrome type 2" for support, advocacy or research.

Logo
Canadian Marfan Association

Increasing awareness, saving lives, and improving the quality of life for patients, their families, and medical professionals affected by Marfan syndrome, genetic aortic disorders, and related connective tissue disorders through national programs of education, support, and research.

http://www.marfan.ca

Last Updated: 22 Jan 2013

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Loeys Dietz Syndrome Foundation

The Loeys-Dietz Syndrome Foundation (LDSF) is a 501(c)3 nonprofit organization dedicated to bringing greater awareness to Loeys-Dietz syndrome (LDS) by encouraging education, fostering research and providing support for those impacted by LDS.

http://www.loeysdietz.org/en/

Last Updated: 5 May 2014

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Marfan syndrome type 2" returned 2 free, full-text research articles on human participants. First 3 results:

Genotype-phenotype analysis of F-helix mutations at the kinase domain of TGFBR2, including a type 2 Marfan syndrome familial study.
 

Author(s): Lin Zhang, Ling-Gen Gao, Ming Zhang, Xian-Liang Zhou

Journal: Mol. Vis.. 2012 ;18():55-63.

 

Transforming growth factor beta receptor II (TGFBR2) gene mutations are associated with Marfan syndrome; however, the relationship between the mutations and clinical phenotypes are not clear.

Last Updated: 19 Jan 2012

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Marfan syndrome: abnormal alpha 2 chain in type I collagen.
 

Author(s): P H Byers, R C Siegel, K E Peterson, D W Rowe, K A Holbrook, L T Smith, Y H Chang, J C Fu

Journal: Proc. Natl. Acad. Sci. U.S.A.. 1981 Dec;78(12):7745-9.

 

Cells in culture from a woman with a variety of the Marfan syndrome produce two species of the alpha 2 chains of type I collagen. One alpha 2 chain appears normal; the abnormal chain has a higher apparent molecular weight than normal and migrates more slowly during electrophoresis ...

Last Updated: 21 May 1982

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Marfan syndrome type 2" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.