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Genetic and Rare Diseases Information Center (GARD)

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Marfan syndrome

Other Names for this Disease
  • Contractural arachnodactyly
  • Marfan syndrome type 1
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Your Question

What are the symptoms of MASS syndrome? Is MASS syndrome related to Marfan syndrome?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is MASS syndrome?

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 individual’s symptoms.[1]
Last updated: 11/30/2011

Are MASS syndrome and Marfan syndrome related?

Yes. MASS syndrome and Marfan syndrome are overlapping connective tissue disorders. Both can be caused by mutations in the gene encoding a protein called fibrillin.[2] These conditions share many of the same signs and symptoms including long limbs and fingers, chest wall abnormalities (indented chest bone or protruding chest bone), flat feet, scoliosis, mitral valve prolapse, loose or hypextensible joints, highly arched roof of the mouth, and mild dilatation of the aortic root.[3]
Last updated: 7/17/2013

How does MASS syndrome differ from Marfan syndrome?

Individuals with MASS syndrome do not have progressive aortic enlargement or lens dislocation, while people with Marfan syndrome do.[1] Skin involvement in MASS syndrome is typically limited to stretch marks (striae distensae).[4] Also, the skeletal symptoms of MASS syndrome are generally mild.[4]
Last updated: 7/17/2013

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:

Last updated: 7/17/2013