MASS syndrome

Common Name(s)

MASS syndrome, Mitral valve prolapse, aortic enlargement, skin and skeletal findings, MASS Phenotype

MASS (mitral valve prolapse, aortic enlargement, skin and skeletal findings) syndrome is a genetic disorder of connective tissue caused by mutations in the FBN1 gene. Connective tissue is the material between the cells of the body that gives tissues form and strength. Symptoms include mitral valve prolapse, nearsightedness, borderline and non-progressive aortic enlargement, and skin and skeletal findings that overlap with those seen in Marfan syndrome. Treatment is based on the individualÕs symptoms.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "MASS syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 "MASS syndrome" returned 118 free, full-text research articles on human participants. First 3 results:

Association between -308 G/A TNF-α polymorphism and appendicular skeletal muscle mass index as a marker of sarcopenia in normal weight obese syndrome.
 

Author(s): L Di Renzo, F Sarlo, L Petramala, L Iacopino, G Monteleone, C Colica, A De Lorenzo

Journal: Dis. Markers. 2013 ;35(6):615-23.

 

Normal weight obese (NWO) syndrome is characterized by normal body mass index (BMI), but high amount of fat mass and reduced lean mass. We evaluated allelic frequency of the G/A -308 TNF-α polymorphism and prevalence of sarcopenia in NWO.

Last Updated: 28 Nov 2013

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Obesity index that better predict metabolic syndrome: body mass index, waist circumference, waist hip ratio, or waist height ratio.
 

Author(s): Abdulbari Bener, Mohammad T Yousafzai, Sarah Darwish, Abdulla O A A Al-Hamaq, Eman A Nasralla, Mohammad Abdul-Ghani

Journal: J Obes. 2013 ;2013():269038.

 

The aim was to compare body mass index (BMI), waist circumference (WC), waist hip ratio (WHR), and waist height ratio (WHtR) to identify the best predictor of metabolic syndrome (MetS) among Qatari adult population.

Last Updated: 3 Sep 2013

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A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome.
 

Author(s): Hugh Young Rienhoff, Chang-Yeol Yeo, Rachel Morissette, Irina Khrebtukova, Jonathan Melnick, Shujun Luo, Nan Leng, Yeon-Jin Kim, Gary Schroth, John Westwick, Hannes Vogel, Nazli McDonnell, Judith G Hall, Malcolm Whitman

Journal: Am. J. Med. Genet. A. 2013 Aug;161A(8):2040-6.

 

The transforming growth factor β (TGF-β) family of growth factors are key regulators of mammalian development and their dysregulation is implicated in human disease, notably, heritable vasculopathies including Marfan (MFS, OMIM #154700) and Loeys-Dietz syndromes (LDS, OMIM #609192). ...

Last Updated: 29 Jul 2013

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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 "MASS syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Recurrent intracardiac mass in a pregnant woman with antiphospholipid syndrome.
 

Author(s): V Matos, B Pinheiro, P Maia, H Leite, A Coelho, A Fernandes

Journal: Acta Med Port. 1994 Dec;7 Suppl 1():S56-60.

 

Clinical manifestations of the antiphospholipid syndrome result from thromboembolic phenomena that occur in all vascular territories. Cardiac manifestations frequently associated with this syndrome include valvular and myocardial lesions. We present a case report of primary antiphospholipid ...

Last Updated: 26 Sep 1995

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Aortopathy in Persons With Bicuspid Aortic Valve, Turner and Marfan Syndrome
 

Status: Recruiting

Condition Summary: Turner Syndrome; Bicuspid Aortic Valve; Marfan Syndrome

 

Last Updated: 18 Mar 2013

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Development of a Blood Test for Marfan Syndrome
 

Status: Recruiting

Condition Summary: Marfan Syndrome; Marfan Related Disorders; Control Subjects

 

Last Updated: 27 May 2014

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Last Updated: 8 Jun 2010

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