Marfan’s Syndrome
Marfan syndrome is a condition in which your
body's connective tissue is abnormal.
Connective tissue helps support all parts of
your body. It also helps control how your body
grows and develops. Marfan syndrome can
cause many eye problems. A common problem
is a dislocated lens in one or both of the eyes.
In this condition, the lens (the part of the eye
that helps focus light) shifts up, down, or to the
side. Other eye complications of Marfan
syndrome include nearsightedness, early
glaucoma (high pressure in the fluid in the
eyes), and early cataracts (clouding of an eye's
lens). A detached retina also can occur.
Cause and Implications
protruding or indented, curvature of the
spine (scoliosis), and flat feet.

Eyes - More than half of all people with
Marfan syndrome experience
dislocation of one or both lenses of the
eye. The lens may be slightly higher or
lower than normal, and may be shifted
off to one side. The dislocation may be
minimal, or it may be pronounced and
obvious. One serious complication that
may occur with this disorder is retinal
detachment. Many people with Marfan
syndrome are also nearsighted, and
some can develop early glaucoma or
cataracts.

Heart and blood vessels (cardiovascular
system) - Because of faulty connective
tissue, the wall of the aorta (the large
artery that carries blood from the heart
to the rest of the body) may be
weakened and stretch, a process called
aortic dilatation. Aortic dilatation
increases the risk that the aorta will tear
(aortic dissection) or rupture, causing
serious heart problems or sometimes
sudden death.

Nervous system - The brain and spinal
cord are surrounded by fluid contained
by a membrane called the dura, which is
composed of connective tissue. As
someone with Marfan syndrome gets
older, the dura often weakens and
stretches, then begins to weigh on the
vertebrae in the lower spine and wear
away the bone surrounding the spinal
cord. These changes may cause only
mild discomfort; or they may lead to
radiated pain in the abdomen; or to
pain, numbness, or weakness in the
legs.
Marfan is an inherited condition, so the
affected person is born with it, and since it is
inherited it may affect more than one family
member. However, sometimes it is caused by a
mutation in the genes of one individual and will
only affect that person and probably his
children in the future.
Marfan syndrome affects different people in
different ways. Some people have only mild
symptoms, while others are more severely
affected. In most cases, the symptoms progress
as the person ages. The body systems most
often affected by Marfan syndrome are:

Skeleton - Because Marfan syndrome
affects the long bones of the skeleton, a
person's arms, legs, fingers, and toes
may be disproportionately long in
relation to the rest of the body. A
person with Marfan syndrome often has
a long, narrow face, and the roof of the
mouth may be arched, causing the teeth
to be crowded. Other skeletal problems
include a sternum that is either


Skin - Many people with Marfan
syndrome develop stretch marks on
their skin, even without any weight
change. These stretch marks can occur
at any age and pose no health risk.
Lungs - Although connective tissue
problems make the tiny air sacs within
the lungs less elastic, people with
Marfan syndrome generally do not
experience noticeable problems with
their lungs. If, however, these tiny air
sacs become stretched or swollen, the
risk of lung collapse may increase.
Treatment
Marfan syndrome has no cure. However,
treatments can help delay or prevent
complications, especially when started early.
Marfan syndrome can affect many parts of your
body, including your heart, bones and joints,
eyes, nervous system, and lungs. The type of
treatment you receive will depend on your
signs and symptoms.
References:
Abdallah, H. (n.d.). Marfan syndrome. Retrieved
June 26, 2011, from
http://childrensheartinstitute.org/educa
te/marfan/marfan.htm
Haldeman-Englert, C. (2010). Marfan
Syndrome. MedlinePlus Medical
Encyclopedia. Retrieved June 26, 2011,
fromihttp://www.nlm.nih.gov/medlinep
lus/ency/article/000418.htm
Marfan Syndrome. (2010, July 20). Retrieved
June 26, 2011, from
http://www.medicinenet.com/script/m
ain/art.asp?articlekey=411
Maumenee, I.H. (1981). The Eye in the Marfan
Syndrome. Transactions of the
American Ophthalmological Society, 79.
Retrieved June 26, 2011, from
http://www.ncbi.nlm.nih.gov/pmc/articl
es/PMC1312201/#reference-sec
What is Marfan Syndrome? (2010, October).
Retrieved June 26, 2011, from
http://www.nhlbi.nih.gov/health/dci/Di
seases/mar/mar_whatis.html
Eye Treatments
Marfan syndrome can lead to many eye
problems, such as a dislocated lens,
nearsightedness, early glaucoma (high pressure
in the fluid in the eyes), and cataracts (clouding
of an eye's lens).
Glasses or contact lenses can help with some of
these problems. Sometimes surgery is needed.
Fact Sheet Developed by Silvia G. Gonzalez