Williams Syndrome

Luis Hernandez Period 1

What is the Disorder?

This disease is a rare genetic disorder that affects kids in multiple ways. It affects a child's growth, physical appearance, and cognitive development. Most people will inherit Williams Syndrome when a chromosome break occurs while the sperm or egg cell is developing. Also, when the gamete is fertilized the child will develop this disease. Also, it's possible for offspring to inherit a broken chromosome from a parent who has the disorder. It was discovered in 1961 by Williams and Beuren while testing 4 patients and found the symptoms in them.

Chromosome

This chromosome is the broken one that causes the disease. The chromosome in the picture is known as chromosome 7.

Symptons/Diagnosis

Some of the most common symptoms for Williams Syndrome are intellectual disability, heart defects, and unusual facial features. The unusual facial features include small upturned nose, wide mouth, full lips, small chin, and widely spaced teeth. Some other symptoms that occur are low birth weight, kidney abnormalities, low muscle tone, hypersensitivity to loud noises, and an outgoing personality. Doctors find Williams Disease by the physical characteristics of the person, and they also use a special technique called FISH. This stands for fluorescent in situ hybridization.

Prognosis/Treatment

The prognosis for Williams Syndrome is different in various situations. For instance, some people are able to function independently, and live by themselves. Some people need to live with a caretaker, and will need a lot of help throughout their whole life. People do not have a certain time to live because they won't die from the disease. Currently right now there is no cure for Williams Syndrome, but patients are consistently watched and treated for symptoms throughout their lives. Also, gene therapy is not a possibility.