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Williams Syndrome

Williams Syndrome. Click the picture!. Rebecca Kallas Biology II . What is Williams Syndrome?.

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Williams Syndrome

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  1. Williams Syndrome Click the picture! Rebecca Kallas Biology II

  2. What is Williams Syndrome? Williams Syndrome is a rare genetic disease (occurs in about 1 in 20,000 births) characterized by mild to moderate mental retardation or learning difficulties, a distinctive facial appearance, and a unique personality that combines overfriendliness and high levels of empathy with anxiety.

  3. Causes of Williams Syndrome • Deletion of a specific region of chromosome 7 (confirmed by a blood test) • Deleted region includes more then 20 genes • Usually a random mutation, but a person with Williams Syndrome has a 50% chance of passing the disease on to their children (dominant) Chart

  4. Symptoms of Williams Syndrome? • Mild to moderate mental retardation • Short stature compared to family • Attention deficit (ADD) • Heart and blood vessel problems • Hypercalcemia (elevated blood calcium levels) • Joint stiffness • Dental abnormalities • Personality traits include being overly friendly trusting strangers, fear of loud sounds or physical contact, and an affinity for music

  5. Treatment of Williams Syndrome? • No cure • Heart and blood vessel problem should be treated on bases of their severity • Physical therapy is helpful to those with joint stiffness • Developmental and speech therapy

  6. What to Expect • Most master self help skills and complete academic and/or vocational schools • Some are employed • Many live with their parents, while some are able to live in supervised housing or on their own • Adult’s often acquire gray hair early (age 20-30 years) • life expectancy is normal unless there is a serious heart defect.

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