Marfan Syndrome:

OVERVIEW OF
MARFAN
SYNDROME
INTRODUCTION AND
OVERVIEW OF MARFAN SYNDROME 2
What is Marfan syndrome?
Marfan syndrome is a genetic disorder of the connective tissue. Connective
tissue is the glue and the scaffolding of the body and helps control how the
body grows. All organs contain connective tissue, so Marfan syndrome
can affect many parts of the body, including the bones, eyes, lungs and
heart. It does not affect cognitive functions.
Marfan syndrome is caused by a variation (mutation) in the gene that tells
the body how to make fibrillin-1, a protein that is an important part of
connective tissue. About three quarters of people with Marfan syndrome
inherit it from a parent; the remainder are the first in their family to be
affected.
People are born with Marfan syndrome but may not notice any features
until later in life. Marfan syndrome features can appear at any age, including
in infants and young children. They often get worse as people age.
About 1 in 5,000 people have Marfan syndrome. This includes men and
women of all races and ethnic groups. There is no cure for Marfan syndrome,
but with early diagnosis, proper treatment and careful management of
the disorder, it is possible for people to live a normal life span.