What Is It? Marfan's syndrome is a genetic (inherited) disorder
that affects the body's connective tissue. Connective tissue is
the tough, fibrous, elastic tissue that connects one part of the
body with another. It is a major part of tendons, ligaments,
bones, cartilage and the walls of large blood vessels. In
Marfan's syndrome, the body can't produce enough fibrillin, an
important building block of connective tissue. The problem in
Marfan's syndrome is caused by a mutation (change) in a gene.
Genes are segments of DNA that direct the body to produce
proteins. In many families with inherited Marfan's syndrome, the
mutation affects the FBN1 gene on chromosome 15, although a
second gene on chromosome 5 may be involved in some cases.
Because of the inherited problem producing fibrillin, people
with Marfan's syndrome have from many different problems related
to weakness in connective tissue. These problems include: -
Reduced vision. In about 65% of Marfan's patients, the lens of
the eye becomes dislocated because