Marfan syndrome (also called Marfan's syndrome) is a genetic disorder of the connective tissue.
It is sometimes inherited as a dominant trait. It is carried by a gene called FBN1, which encodes a connective protein called fibrillin-1. People have a pair of FBN1 genes. Because it is dominant, people who have inherited one affected FBN1 gene from either parent will have Marfan's. This syndrome can run from mild to severe.
People with Marfan's are t...
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Marfan syndrome (also called Marfan's syndrome) is a genetic disorder of the connective tissue.
It is sometimes inherited as a dominant trait. It is carried by a gene called FBN1, which encodes a connective protein called fibrillin-1. People have a pair of FBN1 genes. Because it is dominant, people who have inherited one affected FBN1 gene from either parent will have Marfan's. This syndrome can run from mild to severe.
People with Marfan's are typically tall, with long limbs and long thin fingers.
The most serious complications are the defects of the heart valves and aorta. It may also affect the lungs, eyes, the dural sac surrounding the spinal cord, skeleton and the hard palate.
In addition to being a connective protein that forms the structural support for tissues outside the cell, the normal fibrillin-1 protein binds to another protein, transforming growth factor beta (TGF-β). TGF-β has deleterious effects on vascular smooth muscle development and the integrity of the...
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