Marfan Syndrome



I was diagnosed with Marfan Syndrome three years ago this coming Autumn. For those of you who don't know what Marfan Syndrome is let me explain a little bit about it:
Marfan syndrome (also called Marfan's syndrome) is a genetic dissorder of the connective tissue. People with Marfan's tend to be unusually tall, with long limbs and long, thin fingers.
It is inherited as a dominant trait. It is carried by a gene called FBN1, which encodes a connective protein called fibrillin-1. Marfan syndrome has a range of expressions, from mild to severe. The most serious complications are defects of the heart and aorta. It may also affect the lungs, eyes, the dural sac surrounding the spinal cord, skeleton and the hard palete.
 Researchers now believe that secondary to mutated fibrillin there is excessive TGF-β( transforming growth factor beta) at the lungs, heart valves, and aorta, and this weakens the tissues and causes the features of Marfan syndrome.
Marfan syndrome is named after Antoine Marfan, the French pediatrician who first described the condition in 1896. There you go if you want to know more information go to http://www.marfan.org/. I got all this info at http://www.ask.com/ just type in marfan syndrome.   :)