Genetic Diseases Project

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Genetic Diseases Project

• Lena Ladenheim

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Dandy-Walker Syndrome

• Closely associated with Corpus Callosum and
  encephalocele.
• Medical term is Hydrocephalus
• Sometimes abbreviated with DWS
• Also known as Dandy-Walker Malformation,
  Dandy-Walker Cyst, or Dandy-Walker Variant

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Clinical Description

• Can affect anyone not more prone to any group
  more than another
• Some cases are more severe than others, but this
  depends on the genes

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Graphics
All pictures are photographs of a brain infected
with DWS
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Mode of Inheritance

• Gene disorder
• Dominant disorder
• Factors of inheritance Not known but if parents
  have it or are carriers then the chance is
  increased
• 50 occurrence in births even if one of the
  parents is a carrier

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Punnett Square

• One parent is homozygous recessive, and one is
  heterozygous dominant for the Dandy-Walker
  Syndrome

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Symptoms of the Dandy-Walker Syndrome

• In infants, you will notice slow motor skills
  development
• In children you will see frequent regurgitation
  and a lump on the head.
• There will be malformations on fingers, toes,
  feet, arms
• Mental retardation and learning problems may also
  be present, and can stick with the patient
  throughout their life span

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Detection

• At times, the disorder can not be detected and
  the carrier may go through their whole life
  without even noticing any symptoms. However, they
  normally are present.
• Can only detect through tests

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Diagnostic Testing

• CAT or MR scans, otherwise nothing, and since you
  may not know that you have it you should be
  tested anyway in case that the symptoms are not
  exhibited

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Prognosis

• 35 Survival Rate
• Yes it can be treated, but if acted upon slowly,
  then the patient can die

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Treatment

• There is no single treatment option that will
  universally help victims, however long-term
  surveillance and medicine is the best choice in
  this situation

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Current Research

• Medical organizations are studying the DWS, to
  offer up new methods of treatment and to make the
  public more aware of developmental brain
  disorders such as the DWS

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Genetic Counseling

• Probability that the carriers will have a child
  with DWS is 15

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Additional Interesting Facts

• Name of disorder was because of two men with the
  last names Dandy and Walker they discovered the
  disorder
• Is more common in males than females by .46
• Is a very rare disease and occurs in every 1 per
  250,000 live births, in a case where both of the
  parents do not carry or have DWS

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Credits

• http//www.ninds.nih.gov/disorders/dandywalker/dan
  dywalker.htm
• http//chorus.rad.mcw.edu/doc/00111.html
• http//www.geocities.com/Heartland/Hills/3919/dws.
  html
• http//nyneurosurgery.org/hydrocomm.htm
• http//www.emedicine.com/radio/topic206.htm