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

 

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

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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

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

Go To URL
Association between polymorphisms of fat mass and obesity-associated gene and metabolic syndrome in Kazakh adults of Xinjiang, China.
 

Author(s): Y H Hu, J M Liu, M Zhang, R L Ma, H Guo, K Wang, J He, Y Z Yan, D S Rui, F Sun, L T Mu, Q Niu, Y S Ding, J Y Zhang, S G Li, S X Guo

Journal:

 

The aim of this study was to assess the association between three FTO polymorphisms (rs9939609, rs8057044, and rs1421085) and metabolic syndrome (MS)-related outcomes in the low-income, rural, nomadic minority Khazakh population in far western China. A total of 489 subjects (245 MS ...

Last Updated: 25 Nov 2015

Go To URL
Body Mass Index below Obesity Threshold Implies Similar Cardiovascular Risk among Various Polycystic Ovary Syndrome Phenotypes.
 

Author(s): Gulay Simsek Bagir, Okan S Bakiner, Emre Bozkirli, Gulhan Cavlak, Hulya Serinsoz, M Eda Ertorer

Journal: Med Princ Pract. 2016 ;25(1):61-6.

 

The aim of this study was to determine the cardiometabolic risk factors in different polycystic ovary syndrome (PCOS) phenotypes.

Last Updated: 24 Dec 2015

Go To URL

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

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

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

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Last Updated: 23 Jun 2016

Go to URL
Development of a Blood Test for Marfan Syndrome
 

Status: Recruiting

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

 

Last Updated: 27 May 2014

Go to URL