Williams Syndrome

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Williams Syndrome
By A.S.
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Williams Syndrome

• What is Williams Syndrome?
• A rare, congenital (present at birth) disorder
  characterized by physical and developmental
  problems. Many who have this disorder suffer
  from mild mental retardation. People who have
  this disorder have 15 genes missing from one copy
  of chromosome 7.
• occurs 1 out of 20,000 births.

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Who discovered this disorder?

• Dr. J.C.P Williams discovered it while working in
  a New Zealand Hospital
• He noticed children coming for heart surgery
  were extremely friendly
• So he did more research, and published some work.
• After this, he disappeared and no one heard from
  him again.

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Cause of Williams Syndrome?

• not caused by anything parents did or did not do
  before or during pregnancy
• Individuals are missing genetic material on
  chromosome 7, including gene that makes the
  protein elastin- (a protein that provides
  elasticity to vessel walls.)
• some medical problems are caused by deletion of
  additional genetic material near elastin gene on
  chromosome 7.
• have 50 of passing on to children

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What are the Symptoms?

• Heart and Vessel Problems
• Hypercalcemia (elevated blood calcium levels)
• Low birth-weight/low weight gain
• Overly friendly
• Developmental Delay

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Minor Symptoms

• Feeding Problems
• Dental abnormalities
• Kidney abnormalities
• Musculoskeletal problems

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Is There Any Treatment?

• There is not a cure for Williams Syndrome or
  even a standard course treatment.
• Individuals need regular monitoring for medical
  problems and specialized services.

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Pictures of ChildrenWho Suffered From Williams
Syndrome
Facial Features include wide mouth full
lips puffiness around the eyes
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Adults with Williams Syndrome
majority of adults-master self-help skills and
complete school. employed in various setting
ranging from supervised to independent
jobs. many live with their parents or if
possible are able to live on their own.
Adults with Williams Syndrome
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Links To Research more..

• www.wsf.org
• www.medstudents.com.br/raredi/raredi1.htm
• www.ninds.nih.gov/health_and medical_/disorders/w
  illiams.htm