Signs of Marfan syndrome
Symptoms of Marfan syndrome
The list of medical symptoms mentioned in various sources
for Marfan syndrome may include:
List of 54
Marfan syndrome Symptoms
Note that Marfan syndrome symptoms usually refers to various medical symptoms known to a patient,
but the phrase Marfan syndrome signs may often refer to those signs
that are only noticable by a doctor.
Signs or Symptoms of Marfan syndrome:
Genes and Disease by the National Center for Biotechnology (Excerpt)
Marfan syndrome is a connective tissue disorder, so affects many structures, including the skeleton, lungs, eyes, heart and blood vessels. The disease is characterized by unusually long limbs, and is believed to have affected Abraham Lincoln.
(Source: Genes and Disease by the National Center for Biotechnology)
Questions and Answers about Marfan Syndrome: NIAMS (Excerpt)
Marfan syndrome affects different people in different
ways. Some people have only mild symptoms, while others are more
severely affected. In most cases, the disorder progresses as the person
ages. The body systems most often affected by Marfan syndrome are:
- Skeleton--People with Marfan syndrome are typically very
tall, slender, and loose jointed. Since Marfan syndrome affects the
long bones of the skeleton, 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 abnormalities include a sternum (breastbone) that is either
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. Retinal detachment is a possible serious complication of this
disorder. Many people with Marfan syndrome are also nearsighted
(myopic), and some can develop early glaucoma (high pressure within
the eye) or cataracts (the eye's lens loses its clearness).
- Heart and blood vessels (cardiovascular system)--Most
people with Marfan syndrome have abnormalities associated with the
heart and blood vessels. The valve between the left chambers of the
heart is defective and may be large and floppy, resulting in an
abnormal valve motion when the heart beats. In some cases, the valve
may leak, creating a "heart murmur," which a doctor can hear with a
stethoscope. Small leaks may not cause any symptoms, but larger ones
may cause shortness of breath, fatigue, and palpitations (a very fast
or irregular heart rate). 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 dilation. Aortic dilation 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 people with Marfan syndrome get 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.
This is called dural ectasia. These changes may cause only mild
discomfort or may lead to radiated pain in the abdomen or to pain,
numbness, or weakness of the legs.
- 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. However, people
with Marfan syndrome are also at increased risk for developing an
abdominal or inguinal hernia where a bulge develops that contains part
of the intestines.
- Lungs--Although connective tissue abnormalities 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. Rarely, people with Marfan
syndrome may have sleep-related breathing disorders such as snoring or
sleep apnea (a sleep disorder characterized by brief periods when
breathing stops).
(Source: excerpt from
Questions and Answers about Marfan Syndrome: NIAMS)
Questions and Answers about Heritable Disorders of Connective Tissue: NIAMS (Excerpt)
People with Marfan syndrome
tend to have excessively long bones and are commonly thin, with
long, "spider-like" fingers. Other problems include skeletal
malformations, abnormal position of the lens of the eye, and
enlargement at the beginning part of the aorta, the major vessel
carrying blood away from the heart. If left untreated, an enlarged
aorta can lead to hemorrhage and even death.
This disorder results
from mutations in the gene that makes fibrillin-1, a protein
important to connective tissue.
(Source: excerpt from Questions and Answers about Heritable Disorders of Connective Tissue: NIAMS)
Questions and Answers about Heritable Disorders of Connective Tissue: NIAMS (Excerpt)
This disorder results
from mutations in the gene that makes fibrillin-1, a protein
important to connective tissue.
(Source: excerpt from Questions and Answers about Heritable Disorders of Connective Tissue: NIAMS)
More Symptoms of Marfan syndrome:
More detailed symptom information may be found on the symptoms of Marfan syndrome article.
In addition to the above medical information, to get a full picture
of the possible signs or symptoms of this condition
and also possibly the signs and symptoms of its related medical conditions,
it may be necessary to examine symptoms
that may be
caused by:
Medical articles on signs and symptoms:
These general reference articles may be related
to medical signs and symptoms of disease in general:
What are the signs of Marfan syndrome?
The phrase "signs of Marfan syndrome" should, strictly speaking,
refer only to those signs and symptoms of Marfan syndrome that are not readily apparent to the patient.
The word "symptoms of Marfan syndrome" is the more general meaning; see symptoms of Marfan syndrome.
The signs and symptom information on this page
attempts to provide a list of some possible signs and symptoms of Marfan syndrome.
This medical information about signs and symptoms for Marfan syndrome has been gathered
from various sources,
may not be fully accurate,
and may not be the full list of Marfan syndrome signs or Marfan syndrome symptoms.
Furthermore, signs and symptoms of Marfan syndrome may vary on an individual basis for each patient.
Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they
are indeed Marfan syndrome symptoms.
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