Complete Medical Guide for Disease Volume XIX; Marfan Syndrome

Complete Medical Guide for Disease Volume XIX; Marfan Syndrome

Marfan syndrome (also called Marfan's syndrome) is a genetic disorder of the connective tissue. People with Marfan's tend to be unusually tall, with long limbs and long, thin fingers.

The syndrome is inherited as a dominant trait, carried by the gene FBN1, which encodes the connective protein 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 syndrome.

Marfan syndrome has a range of expressions, from mild to severe. The most serious complications are defects of the heart valves and aorta. It may also affect the lungs, the eyes, the dural sac surrounding the spinal cord, the 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).

Complete Medical Guide for Disease Volume XIX; Marfan Syndrome



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