Williams Syndrome

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Williams Syndrome

• Mary Bystrek

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Williams Syndrome

• Autosomal dominant disorder
• Occurs in approximately one of every 20,000
  births
• Variability in expressivity

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Overall Cause

• Spontaneous deletion on chromosome band 7q11.23.
• Deletion removes more than 20 genes that encode
  for different functions.

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Problems associated with WS

• Heart Blood Vessel Defects
• Supravalvular aortic stenosis
• High blood pressure
• Hypertension
• Hypercalcemia

www.aic.cuhk.edu.hk/ web8/Heart20diagrams.htm
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Problems associated with WS

• Vascular Connective Tissue Deficiency
• Gene that encodes for elastin is deleted
• Kidney Defects
• Stenosis of the renal arteries
• Hernias
• Groin umbilical hernias are more frequent in WS
  patients.

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Psychological Effects

• Mental Retardation
• Behavior Characteristics
• Cocktail Party personality
• Memory loss
• Learning Disabilities
• Neurological Problems
• Auditory Verbal
• Sensitive hearing
• Amazing musical abilities

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Physical Characteristics

• Facial Characteristics
• Growth
• Voice
• Dental Abnormalities

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Diagnosis

• FISH (fluorescent in situ hybridization)
• Most common method of testing for WS
• Analyzes specialized chromosomes by using
  specially prepared elastin probes
• The FISH test will show only one copy of the
  elastin gene in patients with WS.
• Detects deletion of the gene more than 98 of the
  time

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Treatment

• No actual cure
• Support groups, including the Williams Syndrome
  Association
• Therapies (music, horseback riding, etc.)
• Special teacher parent info

www.williams.ngo.hu/ udvozlet/zsofi.jpg
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References

1. Bower, Bruce. (2004). A Very Spatial Brain
   Defect. Science News, Vol. 166, Iss. 11. 165
   167.
2. Cagle et al. (2004). Severe Infantile
   hyperclacemia Associated With Williams Syndrome
   Successfully Treated With Intravenously
   Administered Pamidronate. Pediatrics, Vol. 114
   No. 4, 1091-1095.
3. Dhillon et al. (1998). Acquired coarctation of
   the aorta in Williams Syndrome. Heart, 80,
   205-207.
4. Doyle et al. (2004). Everybody in the world is
   my friend hypersociability in young children
   with Williams syndrome. American Journal of
   Medical Genetics, 124 (3), 263-273.
5. Eronen et al. (2002). Cardiovascular
   manifestations in 75 patients with Williams
   syndrome. Journal of Medical Genetics, 39,
   554-558.
6. Fanconi et al. (1952). Chronische Hypercalcaemie.
   Helv. Paediat. Acta, 7, 314-334.
7. Kaplan et al. (1995). Cerebral artery stenoses in
   Williams syndrome cause strokes in childhood.
   Journal of Pediatrics., 126, 943 945.
8. Pasternak, J.J. An Introduction to Human
   Molecular Genetics Mechanisms of Inherited
   Diseases. 2nd ed. New Jersey Wisley, 2005. pp
   543 545.
9. Williams Syndrome Association http//www.williams
   -syndrome.org