Marfan Syndrome - a brief outline

This is an inheritable genetic variation affecting connective tissue.

Marfan syndrome affects about 1 in 20,000 people. It is named after the French paediatrician who in 1896 described the symptoms of a girl with severe skeletal abnormalities. All the complications can be explained due to problems with connective tissue. Height, eye problems, sudden death to aortal abnormalities are all possible problems. In July 1991 three teams of researchers reported that Marfan syndrome was due to a defect with the fibrillin coding gene found on chromosome 15.

Gender or race does not limit it.

Sufferers show a wide variation is the extent of the problems from this genetic variation.

It is possible that Abraham Lincoln had this genetic variation.

Other sources of information.

A web search for "Marfan Syndrome" will yield a large number of hits. But here are some useful sites.

National Marfan foundation. (an American Organisation devoted to giving good information about the syndrome.) is at http://www.marfan.org - home page. The fact sheet at http://www.marfan.org/pub/factsheet.html contains a detailed outline of the causes and of the problems associated with the syndrome.

http://www.io.com/~cortese/marfan/ a very detailed outline of the issues surrounding this syndrome and includes the personal stories of the Cortese family.

This is a page from www.genefaith.org created by A. J. Palmer.
This page was updated on 2nd December 2002