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.
 

Advocacy and Support Organizations

 

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

Carotid Intima-Media Thickness as the Cardiometabolic Risk Indicator in Patients with Nonfunctional Adrenal Mass and Metabolic Syndrome Screening.
 

Author(s): Mehtap Evran, Gamze Akkuş, İlayda Berk Bozdoğan, Mustafa Gök, Ali Deniz, Murat Sert, Tamer Tetiker

Journal:

 

Our purpose was to show the association of adrenal incidentaloma and metabolic syndrome in consideration of the studies and to detect the increase in the carotid intima-media thickness which is regarded as the precessor of atherosclerosis.

Last Updated: 26 Mar 2016

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Associations of Sarcopenia and Sarcopenic Obesity With Metabolic Syndrome Considering Both Muscle Mass and Muscle Strength.
 

Author(s): Jihye Lee, Yeon-pyo Hong, Hyun Ju Shin, Weonyoung Lee

Journal: J Prev Med Public Health. 2016 Jan;49(1):35-44.

 

We investigated the associations of sarcopenia-defined both in terms of muscle mass and muscle strength-and sarcopenic obesity with metabolic syndrome.

Last Updated: 4 Feb 2016

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Prader-Willi Critical Region, a Non-Translated, Imprinted Central Regulator of Bone Mass: Possible Role in Skeletal Abnormalities in Prader-Willi Syndrome.
 

Author(s): Ee-Cheng Khor, Bruce Fanshawe, Yue Qi, Sergei Zolotukhin, Rishikesh N Kulkarni, Ronaldo F Enriquez, Louise Purtell, Nicola J Lee, Natalie K Wee, Peter I Croucher, Lesley Campbell, Herbert Herzog, Paul A Baldock

Journal:

 

Prader-Willi Syndrome (PWS), a maternally imprinted disorder and leading cause of obesity, is characterised by insatiable appetite, poor muscle development, cognitive impairment, endocrine disturbance, short stature and osteoporosis. A number of causative loci have been located within ...

Last Updated: 30 Jan 2016

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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

Last Updated: 23 Jun 2016

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Low-dose IL-2 ( Interleukin-2) Treatment in Macrophage Activation Syndrome(MAS)
 

Status: Recruiting

Condition Summary: Macrophage Activation Syndrome

 

Last Updated: 4 Oct 2015

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Treatment of Macrophage Activation Syndrome (MAS) With Anakinra
 

Status: Recruiting

Condition Summary: Macrophage Activation Syndrome

 

Last Updated: 28 Dec 2016

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