Williams Syndrome

Get Inside of the Disorder

Williams Syndrome: what is it?

Williams Syndrome is a rare genetic disorder that can affect an individual's development and cause many unique symptoms including learning problems, abnormal facial appearance and over-friendliness. It is caused by missing genes in chromosome 7. Williams Syndrome is present at birth and anybody can get it. It is considered a dominant trait. One of the most known symptoms is cardiovascular disease or the narrowing of arteries and blood vessels. Many organizations take time to help treat patients with the disorder and help their families like Williams Syndrome Association or the WSA.

(The picture shown here is of the Williams Syndrome Association, a dedicated organization that wants to help people with Williams syndrome.)

Symptoms

People with Williams Syndrome can get any of the many symptoms caused by the disorder. When a child with WS is born, you can look for the common symptoms. Toddlers tend to be moody and irritable and usually have eating/feeding problems. They'll have a strange facial structure compared to someone without it. People can have different symptoms depending on their age. The symptoms can include the following.



  • Facial: short/upturned nose with wide mouth, full cheeks and lips, puffy eyes, starburst eyes, and a small chin
  • Body: long neck,sloping shoulders, curved spin, and short stature
  • Health: abdominal pain, diabetes, low muscles tone, ADD or ADHD, anxiety(can be extreme), hearing loss, issues reading, writing and drawing, over-friendliness, heart and artery problems, hernias, high blood calcium levels, and slow weight gain



There are ways to try to lessen the symptoms the individual may have.


  • Try to avoid extra calcium and vitamin D
  • Check with heart doctors if you notice any heart troubles
  • Go to special programs and therapy for help in development
  • Check other treatments based on their current symptoms.



(The picture shown above is a list of the common symptoms of people with Williams syndrome.)

Examples of people with the disorder

Cures and Treatments

There currently isn't any known cure for the disorder or any standard treatments. Treatments are based on the person's individual symptoms, but there are none for the entire disorder. Clinics have been set up all across the U.S. helping people with William's Syndrome. People with it need cardiovascular monitoring for any problems with blood vessels or arteries narrowing, heart failure, or high blood pressure. Physical therapy helps joint issues. There are also no ways to prevent the disorder from happening. If a person with William's Syndrome has children there is a 50% chance the child would get it too, but most people with it don't have kids. Tests can be done to see if a person has the disorder including blood pressure tests, missing chromosome tests, kidney and heart ultrasounds, and looking for the physical traits of it.


(This is a picture of a young girl at one of the Williams Syndrome centers across the U.S.)

Research Being Done

The disorder was first discovered in the 1990's by the National Institute of Neurological Disorders and Stroke. Few studies have been done to determine if the disorder causes people to live longer or shorter. However, it seems most don't live to be very old, but some may live to be over 60. It's been found it can physically age your appearance making them look older. Research has found that about every 1 of 8,000 babies can get it. Most individuals with Williams Syndrome need full time caregivers or supervised houses. There doesn't appear to be a connection between environmental factors and the disorder though. More research is still being done to make sure we know everything we can about it. Organizations that are helping people with the syndrome include Williams Syndrome Association, National Organization for Rare Disorders, National Heart, Lung and Blood Institute, and National Institute of Neurological Disorders and Stroke.


(Here we have a picture of the National Institute of Neurological Disorders and Stroke, a program that researches disorders and learns about them.)

Big image
This picture illustrates that in Williams Syndrome there are genes are missing from chromosome 7 which causes the disorder to occur.