Noonan Syndrome: Causes, Symptoms, Daignosis, Prevention and Treatment

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Noonan Syndrome
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Noonan Syndrome

• Noonan syndrome is a genetic disorder that
  prevents normal development in various parts of
  the body. A person can be affected by Noonan
  syndrome in different ways. These involve unusual
  facial characteristics, short stature, heart
  defects, other physical problems and possible
  developmental delays.The prime cause of the
  noonan syndrome is a genetic mutation and it is
  acquired when a child inherits a copy of an
  affected gene from a parent (dominant
  inheritance). It can also occur as a spontaneous
  mutation, meaning there's no family history
  involved. There's no specific treatment for
  Noonan syndrome. Management focuses on
  controlling the disease's symptoms and
  complications. To treat short stature in some
  people with noonan syndrome, growth hormone can
  be used.

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Causes of Noonan syndrome

• The mutation can be inherited from a parent who
  carries the defective gene (autosomal dominant),
  or it can develop because of a new mutation in
  children who don't have a genetic predisposition
  for the disease. Disorders in these genes cause
  them to generate proteins that are continually
  active. Because these genes play a role in the
  formation of many tissues throughout the body,
  this constant activation of their proteins
  disrupts the normal process of cell growth and
  division. 

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Complications related with Noonan syndrome

• Many of the symptoms associated with Noonan
  syndrome are treated just as they would be for
  anyone else experiencing a health problem. Taken
  together though, the many problems this disorder
  can cause require coordinated management by your
  health care team. Complications can arise that
  may require special attention, including 
• Developmental issues - If your child is affected
  developmentally, he or she may have difficulty
  with organization and spatial sense. Sometimes
  the developmental challenges are severe enough to
  require a special plan to address your child's
  learning and educational needs.

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Complications related with Noonan syndrome

• Bleeding and bruising Excessive bleeding and
  bruising can be caused by noonan syndrome. This
  can create problems at the time of surgery or
  dental work. If excess bleeding and bruising
  affects you or your child, ignore aspirin or
  aspirin-containing products as aspirin can affect
  clotting of the blood. In general, children need
  to avoid aspirin because of its association with
  Reye's syndrome.
• Complications related to lymphatic conditions
  At times, fluid can be collected in the cavity
  area around the heart and lungs, requiring a
  chest tube to drain. Sometimes, this can result
  in weight loss or infection, if the draining is
  prolonged or needs to be repeated.
• Complications related to genital and urinary
  tract - Males can surely have a low sperm count
  and other fertility problems because of
  undescended testicles (cryptorchidism).
  Structural abnormalities in the kidneys may
  increase the rate of urinary tract infections.

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Prevention

• Talk to your doctor about undergoing genetic
  counseling before you have children if you are
  having a family history of noonan syndrome. As
  many of the cases of noonan syndrome occur
  spontaneously, there's often no known way to
  prevent it.If noonan syndrome is identified
  early, it is possible that regular and
  comprehensive care can reduce some of its
  complications, like heart disease.

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