Williams Syndrome

Alternative Names

Williams Syndrome or WS, Beuren syndrome or BS, Williams-Beuren syndrome or WBS, Elfin Facies syndrome

What is Williams Syndrome

Williams syndrome is a genetic disorder that is present at birth and can affect anyone. The most popular characteristics are medical problems which cannot be predicted. They are cardiovascular disease, developmental delays and learning disabilities. In other words, 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.

The scientists found out that Williams syndrome affects only one child out of approximately 7500 children, in both males and females and in every culture.

People with Williams syndrome are often isolated and that can lead to depression. They want to communicate with others, because they are extremely sociable; however people with Williams syndrome often aren’t in course about nuanced social cues and this makes it difficult to have lasting relationships.

Signs and symptoms

The most common symptoms of Williams Syndrome are :

• cardiac problems
• mental disability
• unusual features of the face
• low toning of muscles
• some difficulties in gaining weight during infancy
• extremely highly verbal
• very social (cocktail- party syndrome)
• weakness
• widely placed teeth
• flattened nasal bridge
• long philtrum
• puffy under eye area
• intolerance of ordinary levels of sound
• phonophobia (abnormal sensitivity to hearing)
• prevalence of left eye dominance and left-handedness
• anxiety
• difficulties in learning and paying attention

Possible complications

Possible Complications could be:

• Calcium deposits in the kidney and other kidney problems
• There have been rare cases of children with Williams syndrome having complications, including death, with anesthesia
• Blood vessel narrowing can cause heart failure
• Abdominal pain

What causes

The main causes of Williams syndrom are:

The causes of Williams syndrome are based on the deletion of some genetic material from the chromosome no.7. A particular gene by name ELN gene codes for the protein Elastin. Any absence of this gene can result in the abnormalities of connective-tissue and cardiovascular disease. Some other genes are responsible for visual-spatial activities also get deleted causing visual and visual-spatial processing problems. Even genes coding for cognitive and behavioural skills are also affected.

Prevention

The scientists didn't find out yet the way to prevent the genetic problem that causes Williams syndrome. There is a Prenatal testing for couples with a family history of Williams syndrome who want to conceive.

Treatment

There is no cure for Williams syndrome. Treatments depend on an individual’s particular symptoms. There are some multidisciplinary clinics at several centres in the USA. Patients are kept under constant cardiovascular monitoring so that there are any complications such as narrowing of blood vessels or increase in blood pressure or heart failure, medicals can act immediately. There are also numerous special schools in which kids are taught to carry on with their life like normal people.

There are some researches going on to find out a treatment for Williams Syndrome.