Williams Syndrome

What is Williams Syndrome ?

Williams syndrome is a genetic disorder which is not confined to a particular gender or race. It is rare but can be found in all parts of the world, in fact it has been found out that Williams syndrome affects only one child out of approximately seven thousand five hundred children. Presence of this syndrome leads to developmental and medical problems, which cannot be predicted. To put it in a simple way Williams Syndrome is caused by the absence of the gene that makes elastin, which is a protein that supplies strength and elasticity to the walls of the blood vessels.
Picture

Share with Us

Picture
Lace up your sneakers and get ready to walk! The Remedy Band will be participating in the ‘Walk For Williams’ charity event on May 15th, 2010 at Willis Road Elementary School in Sharpsburg, GA.Registration for the event will take place at 9 AM, with the walk getting underway at 10 AM.
In addition to the walk for charity, there will be a silent auction that includes, among other items, 4 sets of two Atlanta Braves Tickets with Diamond Preferred Valet Parking passes.  There will also be a 50/50 raffle and games and activities for kids and adults alike.
Along with heightening awareness about Williams Syndrome, the goal of the event is to raise $2,000 and all proceeds from the event will be donated to the Williams Syndrome Association. In addition to making a donation at the event, organizers have set up a 
web page to allow for contributions to be made prior to the event as well. Remedy is thrilled to be able to participate in kind to support this outstanding cause look and forward to adding a little extra inspiration to the participants as they ‘Walk For Williams!’
Williams Syndrome is a genetic disorder that is present at birth and can affect anyone. Medical and developmental problems such as cardiovascular disease, developmental delays and learning disorders occur side by side with strong verbal skills, highly social personalities and an affinity for music.
We hope to see you out at this event and encourage you to spread the word. Thank you for your support!
Date: Saturday, May 15th @ 9 AM
Location: Willis Road Elementary School
Address: 430 Willis Road, Sharpsburg, GA 30277, Website: www.williams-syndrome.org Cost: Charity Event – Make your donation today!
Registration: Download the registration form and bring it to the event


Characteristics of Williams Syndrome

Children suffering of Williams Syndrome shoe very characteristic features that make it evident like facial peculiarities and mental retardation. The facial features of such kids are often referred to as "Elfin" features which include the following:
  • Long Philtrum
  • Wide mouth and full lips
  • Puffy under eye area
  • Small chin
  • Low weight
  • Feeding problems in case of babies.
  • Irritable when infants
  • Problems in the kidney structure and function
  • Very social (Cocktail- party syndrome)
  • Difficulties in learning and paying attention
  • Upturned Nose
Apart from these distinct structural features, there are other symptoms as well which might not show but they are still there and are abnormal like their inability to understand the depth and inability to understand the assembling of small parts to form another objects. This kind of problem arises due to slow activity in the dorsal part of the brain.

Causes of Williams Syndrome 

As stated earlier Williams Syndrome is caused due to the absence of a gene. In case of Williams Syndrome a very small chromosomal deletion occurs from the q11.2 part of chromosome 7. The zone, which is deleted, consists of approximately 20-25 genes. Out of these genes one has the ability to produce elastin, which is a protein that gives elasticity to the blood vessels and the other tissues of the body. This protein is made during the development of the fetus and during early infancy when even the blood vessels are being made. Since the body of the people who have Williams syndrome does not have elastin, they suffer from Vascular disorders. There are other parts of the chromosome that are also deleted which lead to the physical and mental retardation.
Picture

Treatment Of Williams Syndrome

Since this a genetic disorder and occurs in the prenatal stage there is no cure for this disorder. Since every individual has his or her own way of coping with it treatments are also dependent on the individual. Patients are kept under constant cardiovascular monitoring so that in case of any other complication like narrowing of blood vessels or increase in blood pressure or heart failure, medical steps can be taken immediately. There are numerous special schools, which are being established to teach these kids the way to carry on with their life like normal people. They are taught self help skill and some who can grasp it are also provided exposure vocational and educational designs. There are researches going on to find out a treatment for Williams Syndrome.