2. This disease is also known as William-Beuren Syndrome. Alternative Names
3. People with Williams are missing a genetic material from chromosome 7. This includes the protein elastin. Elastin’s protein product gives blood vessels the stretchiness and strength to be used a whole lifetime. Elastin is made during the embryonic development and childhood, when blood vessels are formed. CAUSES
4. The deletion is caused by a break in the DNA molecule that makes up a chromosome. Most breaks occur while the spermor egg cell is developing. While the gamete is fertilized, Williams Syndrome will form.
5. Most common: mental retardation, heart defects, and unusual facial features. Other symptoms: low birth weight, failure to gain weight appropriately, kidney abnormalities, and low muscle tone. Also people with the syndrome with exhibit characteristic behaviors, like hypersensitivity to loud noises and overly outgoing personality. Symptoms
6. Most doctors diagnose the disorder by the physical features of the child. To confirm the diagnosis doctors use the special technique called FISH. FISH stands for “Fluorescent in situ hybridization” How Doctors Diagnose the Disease
7. The deletion of the chromosome that causes the disease is so small that it can’t be seen in a karyotype. The DNA sequence is labeled with a fluorescent chemical that lights up in ultraviolet light. The elastin gene is labeled with the chemical and if its there it will light up under UV light but if it isn’t then the child has Williams Syndrome. FISH
8.
9. There is no cure for Williams syndrome and people with the disease will have to be treated and monitored for symptoms for their whole life. Treatments
10. About 1 in every 8,000 children will have Williams Syndrome. There are no real risk factors but parents with the disease have about a 50% chance of passing it to their children. Incident Rate and Risk Factors
11. The Williams Syndrome Foundation (WSF) The Williams Syndrome Association (WSA) Berkshire Hill Music Academy (BHMA) Support Groups
