MASS syndrome
MASS syndrome
MASS syndrome (pronounced: /mæs/), is a medical condition that is characterized by Mitral valve prolapse, Aortic enlargement, Skin and skeletal findings and Stretch marks (Striae distensae). The term MASS is an acronym derived from the initial letters of these major features.
Etymology
The term MASS syndrome was first coined by the American geneticist, Reed Pyeritz in 1998. The acronym MASS stands for Mitral valve prolapse, Aortic enlargement, Skin and skeletal findings, and Stretch marks.
Mitral valve prolapse
Mitral valve prolapse (pronounced: /ˈmaɪtrəl ˈvælv ˈproʊleɪps/) is a condition in which the two valve flaps of the mitral valve do not close smoothly or evenly, but bulge (prolapse) upward into the left atrium.
Aortic enlargement
Aortic enlargement (pronounced: /eɪˈɔːrtɪk ɪnˈlɑːrdʒmənt/) is a condition where the aorta, the main and largest artery in the human body, becomes larger or dilated.
Skin and skeletal findings
Skin and skeletal findings (pronounced: /skɪn ænd ˈskɛlɪtl ˈfaɪndɪŋz/) in MASS syndrome often include loose skin and joint hypermobility.
Stretch marks
Stretch marks (pronounced: /strɛtʃ mɑːrks/), or striae, are a common feature of MASS syndrome. They are long, narrow streaks, stripes, or lines that develop on the skin and which differ in hue from the surrounding skin.
Related terms
- Marfan syndrome - a genetic disorder that affects the body’s connective tissue. MASS syndrome shares many similar features with Marfan syndrome.
- Loeys-Dietz syndrome - a genetic disorder characterized by enlargement of the aorta and skeletal abnormalities. It is often compared with MASS syndrome due to the overlap in symptoms.
External links
- Medical encyclopedia article on MASS syndrome
- Wikipedia's article - MASS syndrome
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