more exotic diseases known in the medical community is called Marfan Syndrome
— a genetic disorder that affects the body’s connective tissue. Connective
tissue holds all the body’s cells, organs and tissue together. It also plays an
important role in helping the body properly grow and develop.
Marfan syndrome can affect many different parts of the body, as well. According
to the Marfan Foundation, features of the disorder are most often found in the
heart, blood vessels, bones, joints, and eyes. Some Marfan features – for
example, aortic enlargement (expansion of the main blood vessel that carries
blood away from the heart to the rest of the body) – can be life-threatening.
The lungs, skin and nervous system may also be affected. Marfan syndrome does
not affect intelligence.
men and women of all races and ethnic groups. About 3 out of 4 people with Marfan
syndrome inherit it, meaning they get the genetic mutation from a parent who
has it. But some people with Marfan syndrome are the first in their family to
have it; when this happens it is called a spontaneous mutation. There is a 50
percent chance that a person with Marfan syndrome will pass along the genetic
mutation each time they have a child. Much more detailed information is found
at this site: https://www.marfan.org/about/marfan
elongated fingers and toes (arachnodactyly), and have an arm span that exceeds
their body height. Other common features include a long and narrow face,
crowded teeth, an abnormal curvature of the spine (Scoliosis or Kyphosis), and
either a sunken chest (pectus excavatum) or a protruding chest (pectus
carinatum). Some individuals develop an abnormal accumulation of air in the
chest cavity that can result in the collapse of a lung (spontaneous
spinal cord, can be abnormally enlarged (dural ectasia) in people with Marfan syndrome. Dural ectasia can cause pain in the
back, abdomen, legs, or head. Most individuals with Marfan
syndrome have some degree of nearsightedness (myopia). Clouding of the
lens (cataract) may occur in mid-adulthood, and increased pressure within the
eye (glaucoma) occurs more frequently in people with Marfan
syndrome than in those without the condition.
can become apparent anytime between infancy and adulthood. Depending on the
onset and severity of signs and symptoms, Marfan can be fatal early in life;
however, the majority of affected individuals survive into mid- to late
adulthood. More information on this health care issue is located at this
diagnosing and caring for someone with Marfan syndrome. They include a geneticist (a doctor
who specializes in disorders of the genes), a cardiologist (heart doctor), an ophthalmologist (eye
doctor), and an orthopedist
of Marfan syndrome may be apparent when a child is very young, while
some people don’t have noticeable symptoms until their teen years or even
adulthood. But some people go through life never knowing they have the
disease, and that can be dangerous. Getting diagnosed early means doctors can
do a lot to help keep someone healthy.
Marfan syndrome must be followed closely by a team of doctors. Because teens’
bodies grow and change so quickly, most teens will need echocardiograms at
least once a year, plus frequent eye and bone exams. This helps doctors stay on
top of any new problems. Many of
the complications of Marfan syndrome can be managed with medications and, if
may prescribe special medicines called beta
blockers and ARBs (angiotensin-receptor blockers), which
work to lower blood pressure and reduce wear and tear on the blood vessels.
This can often delay the progression of aortic dilation. If the aorta does
eventually widen to a potentially dangerous size, or if valve leakage becomes a
problem, a doctor may recommend surgery to repair or replace the damaged parts
of the heart.
syndrome affects people differently, so life is not the same for all teens who
have it. Some have severe cases of Marfan syndrome and many symptoms that
require lots of medical care. Others have such a mild form that they simply
need to have a checkup once a year. There are lots of things people with Marfan
syndrome can do to help keep themselves healthy. The most important is to avoid
putting extra stress on the heart.
avoiding any sport where there’s a lot of running, physical contact, muscle
straining, or the chance of getting hit in the chest — things like basketball,
football, baseball, gymnastics, weightlifting, and track. One thing people who
have Marfan syndrome should never do is smoke or use tobacco products. More
information is available at this website: http://kidshealth.org/en/teens/marfan.html
to the March of Dimes, here’s what you need to know about Marfan syndrome:
Marfan syndrome usually is inherited. This means it’s
passed from parents to children through genes.
If you or a family member has Marfan syndrome, talk to a
genetic counselor to learn about the chances of your baby having it.
People with Marfan syndrome can have a range of health
problems and may need special medical care.
With the right treatment, people with Marfan syndrome can
live as long as people without the condition.
health conditions that are present at birth. Birth defects change the shape or
function of one or more parts of the body. They can cause problems in overall
health, how the body develops, or in how the body works. More details are
located at this website: http://www.marchofdimes.org/complications/marfan-syndrome.aspx
if you suspect that your child may be symptomatic, especially if one parent is
already suffering from this disease. Early diagnosis is key to preventing a
serious medical situation later in the child’s physical development. Consult
your doctor or a medical professional if you feel that testing should be done.