Noonan Syndrome: Causes, Symptoms, Daignosis, Prevention and Treatment - PowerPoint PPT Presentation

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

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Noonan Syndrome is a form of genetic disorder that prevents normal development in various parts of the body. The main 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. – PowerPoint PPT presentation

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


1
Noonan Syndrome
2
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.

3
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. 

4
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.

5
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.

6
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.

7
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