What is Williams Syndrome?
This is a developmental disorder that does not affect any particular race or gender and can be found around the world. In the United States alone there are approximately twenty to thirty thousand people with this disorder. It usually affects one in out of eight thousand births and is present when the baby is born. It is also referred to as Williams-Beuren Syndrome. Children with Williams Syndrome are usually endearing, friendly, and sociable. Many of these children have cardiovascular problems that are life-threatening. As they get older they find themselves struggling with such things as abstract reasoning, numbers, and spatial relations.
- Speech that is display although later in life this could turn into strong learning by listening and hearing and strong speaking ability.
- Developmental delays
- Attention deficit disorder (ADD) causing them to be easily distracted.
- Problems with feeding such as vomiting, colic, and reflux
- Clinodactyly which is the inward bend of the little finger
- Although they have learning disorders they can usually learn some with repetition
- Mental retardation that can range from mild to moderate
- Various personality traits such as trusting strangers, being interest in music, fearing loud sounds, being very friendly, fearing physical contact.
- Being short in stature compared to the rest of the family members.
- Having pectus excavatum which is sunken chest.
- Low weight and muscle tone at birth.
- Irritable when they are babies
- Problems with the kidney function and structure.
- Having specific phobias
- Being farsighted
Unusual facial appearances
- Small upturned nose with a nasal bridge that is flattened
- Having long ridges in their skin from the nose to the upper lip called philtrum.
- Open mouth with prominent lips
- Epicanthal folds which is when the skin covers the inner corner of your eye.
- Defective tooth enamel, teeth that are widely spaced and small, or teeth that are partially missing or crooked
- Having a broad forehead
- Full cheeks
- In adults their face appears more gaunt and longer
In addition to all the symptoms that you can see there are some symptoms that you cannot see but are abnormal. These symptoms can include:
- The inability to understand the depth.
- The inability to understand how to assemble small parts in order to form other things.
These types of symptoms occur because there is slow activity in the dorsal part of their brain.
They may also have connective tissue abnormalities in which they may have loose, soft skin and joint problems. They may also have an increase in the calcium levels in their blood when they are babies.
This rare genetic disorder is caused by genes that are missing. There may be not family history with anyone having Williams Syndrome but if a person has this syndrome there is a fifty-fifty chance their children inheriting this syndrome. This does not happen that often. There are approximately twenty-five genes in the chromosome that is affected. One gene that is missing in Chromosome 7 is the one that produces "elastin". It is a protein that will allow tissues and blood vessels in your body to stretch. If you have Williams Syndrome and have only one copy this particular gene it can cause your blood vessels to narrow. Many with Williams Syndrome will have vascular disorders because of this missing gene. Chromosome 7 is the one that is responsible for this syndrome.
Williams Syndrome is normally diagnosed by the physical characteristics that people with this disorder display.
Some of the tests that are used are:
- Fluorescent in situ hybridization (FISH) - this type of lab tests will label with a particular chemical, which under ultraviolet light will light up, the DNA sequences. This test will let scientists check to observe if that particular gene is there or not.
- Doing an ultrasound on their kidneys
- Taking their blood pressure to see if they have high blood pressure
- Check to see if they have a high calcium level in their blood.
- Checking to see if they have slack joints
- Checking to see if the iris of their eyes has any patterning that is unusual.
Because this genetic disorder occurs during the prenatal stage there is cure for this syndrome at this time so the only treatment given involves easing any of the symptoms they have that are connected to this disorder. Sometimes having speech and physical therapy is helpful and beneficial.
Basically the physician will base the treatment done on the person’s symptoms. It is necessary for a person with Williams Syndrome to have regular checkups in order to monitor any problems and evaluate their cardiovascular system to monitor for heart failure, or increase in blood pressure. When a person has Williams Syndrome they need to avoid taking any extra Vitamin D and calcium because of the possibility of already having a high level of calcium in their blood.
Because children with Williams Syndrome have learning disabilities and some degree of mental retardation there are a number of special schools being established to help teach them how to live their lives like a normal person. They are especially being taught self help skills. There is also ongoing research in hopes of one day finding a treatment for this genetic disorder.
The life expectancy of a person with this syndrome varies due to the variety of medical conditions they can develop. Heart failure can be caused by narrowed blood vessels and high blood pressure. Kidney problems can be caused by calcium deposits. Because Williams Syndrome can cause mild to moderate mental retardation may need to live in supervised homes or with a caretaker.
sam on October 16, 2014:
i have williams syndrome and 38 years old what age will i live to