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 121 free, full-text research articles on human participants. First 3 results:

Association between fat mass- and obesity-associated (FTO) gene polymorphism and polycystic ovary syndrome: a meta-analysis.
 

Author(s): Xianli Cai, Chibo Liu, Sihua Mou

Journal:

 

Many studies have investigated the relationship between FTO gene polymorphism and polycystic ovary syndrome (PCOS) susceptibility but revealed mixed results. In this study, we aimed to perform a meta-analysis to clarify this association.

Last Updated: 27 Jan 2014

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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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[Metabolic profile in women of different body mass indices with polycystic ovary syndrome].
 

Author(s): Rosângela Maria Lopes de Sousa, Maria Bethânia da Costa Chein, Diego Salvador Muniz da Silva, Maysa Baldez Dutra, Paula Andrea de Albuquerque Salles Navarro, José Albuquerque de Figueiredo Neto, Luciane Maria Oliveira Brito

Journal: Rev Bras Ginecol Obstet. 2013 Sep;35(9):413-20.

 

To characterize and compare clinical, anthropometric and biochemical-metabolic variables in patients with polycystic ovary syndrome (PCOS), stratified according to body mass index (BMI).

Last Updated: 12 Nov 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

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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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