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Shprintzen-Goldberg Syndrome is a condition that affects many parts of the body. People who have this syndrome have a combination of unique facial features and skeletal and neurological abnormalities. Shprintzen-Goldberg syndrome is caused by genetic changes (mutations) in a gene that contributes to the formation of connective tissue. How prevalent is Shprintzen-Goldberg syndrome? What are […]
Bicuspid aortic valve (BAV) is a defect of the aortic valve that is present at birth. The aortic valve allows oxygen-rich blood to flow from the heart to the aorta. The aorta is the major blood vessel that brings blood to the body. Normally, there are three valve flaps (leaflets) in the aortic valve. In a person who […]
Beals syndrome is a disorder of connective tissue. The syndrome was first explained by Beals and Hecht in 1971. Features of Beals syndrome are found throughout the body, especially in large joints. While there is no information on the exact prevalence of Beals syndrome, it is estimated that the incidence (number of new cases within […]
Ehlers-Danlos syndrome is a group of connective tissue disorders that are characterized by unstable, hypermobile joints, loose, “stretchy” skin, and tissue fragility. It is caused by a defect in the connective tissue. The fragile tissues and skin and unstable joints found in Ehlers-Danlos syndrome are due to a gene mutation in collagen. What other names […]
Loeys-Dietz syndrome is a genetic disorder of connective tissue. Because connective tissue is found throughout the body, Loeys-Dietz syndrome features can occur in the heart, blood vessels, bones, joints, skin, and internal organs, such as the intestines, spleen, and uterus. Some Loeys-Dietz syndrome features are easy to see. Others features, such as heart and blood […]
People with Marfan syndrome frequently have problems with their heart and blood vessels. Sometimes, these problems are very serious. The most common complication affects the aorta (the main blood vessel carrying blood from the heart to the rest of the body). Heart valves may be affected as well. Less often, blood vessels other than the […]
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