William's Syndrome

Science Period 8 Amanda Molina

William's Syndrome was discovered by Dr. J.C.P. Williams in New Zealand in 1961

William's Syndrome

- A rare genetic disorder characterized by mild to moderate delays in cognitive development or learning disabliities, a distinctive facial appearance, and a unique personality that combines over-friendliness and high levels of empathy with anxiety.

Side effects or Symptoms

-Delayed speech

-Attention Defecit Disorder (ADD)

-Fear of physical contact

-Interest in music

-Over friendly

-Fear of loud noises

-Difficulty in weight gain

-Mental retardation

-Feeding problems

-High blood pressure

-Farsightedness

-High anxiety

-Gastrointestinal problems

-Hormone problems

-Diabetes in adults

Learning disorder

Heredity Facts

-William's Syndrome is about equal between male and female

- It is a dominant trait

-WS affects 1 in every 7500-20000 people

-WS is located on the 7th chromosome

Tests used to determine if an individual has William's Syndrome

A technique called FISH is used to diagnose William's Syndrome. FISH stands for fluorescent un situ hybridization. FISH analyzes chromosomes using specially prepared elastin probs. They check to see how many copies of the elastin genes the patient has on chromosome 7. If they have two they do not contract the syndrome, if they only have one copy thenthe patient does have William's Syndrome.

Can you prevent William's Syndrome?

Even though WS has a genetic link present, a person can be born with the syndrome without a family history of it. Affected individuals have a 50% chance of passing it on to their children. There is not cure for William's Syndrome. Patients can go through physical and speech therapy or can get their narrowed blood vesseld treated but they will not be completely normal. There is no standard treatment protocal. They should avoid taking extra calcium and Vitamin D because of the high blood levels. In conclusion, you cannot be fully sure that your child will not have William' Syndrome but there are many ways to reduce the risk of giving your child the syndrome.

Support Groups

A good support group for an idividual with William's Syndrome is The Arc. The Arc is a national organization for people with intellectual and development disabilities.