Williams Syndrome
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Williams Syndrome: The Basic Facts

 Williams syndrome is a rare genetic disorder that has the characteristic feature of distinctive, "elfin" like facial appearance and a low nasal bridge. These include upturned nose, Wide mouth with full lips, slightly puffy cheeks, widely spaced eyes, Small chin and Irregular and widely spaced teeth. The disorder is seen in about 1 in 7,500 persons. Dr. J. Williams of New Zealand identified the syndrome in 1961.

In person with this syndrome, the gene, which helps in the production of the protein elastin from chromosome 7, is missing. This particular protein is the cause of giving strength and elasticity to the different blood vessel walls. The syndrome is not found to be inherited as the abnormality of the chromosome 7 is seen to be occurring randomly.

The syndrome could be detected in 1 in 25,000 persons. The person with this syndrome is likely to have medical as well as developmental problems.

 What Causes Williams Syndrome

The cause for Williams syndrome is found to be the removal of genetic material from q11.23 of chromosome 7. There are over 20 genes, which are deleted from the region, which is believed to be contributing to the person getting the characteristic features. People having Williams syndrome are found to be having the genes CLIP2, , GTF2I, LIMK1, ELN and GTF2IRD1 missing from their region. ELN loss is found to be responsible for connective-tissue abnormalities and also different cardiovascular disease of the person. These include supravalvular aortic stenosis and supravalvular pulmonary stenosis. Studies have shown that removal of LIMK1, GTF2I, GTF2IRD1 as well as some other genes are the cause of problems with visual–spatial tasks. The other loses of genes like CLIP2 is responsible for learning disabilities and having the unique behavioral characteristics along with other cognitive difficulties seen in these people.

 Williams Syndrome Symptoms

The symptoms of the Williams syndrome are an unusually cheerful demeanor with easiness with strangers, along with unpredictably negative outbursts. The person shows mental retardation with unusual language skills, though he or she loves music. There could be cardiovascular problems like transient hypercalcaemia and supravalvular aortic stenosis.

 Williams syndrome shows symptoms that are in many respect similar to autism (like difficulty understanding the mind of the conversational partners) as well as fetal alcohol syndrome (like some unique facial features, learning disabilities, negative potential outbursts). But these persons have very good social ability that has made the syndrome to be also called "cocktail-party syndrome". People with this syndrome seem to be having high prevalence of left-handedness and also left-eye dominance and the persons have absolutely higher pitch. Children born with the syndrome are found to have low birth weight. These babies also find it difficult to breast feed and gain weight.

These persons show lack of perception of depth and also they are incapable to picture the way different parts can be assembled into larger objects. This is duet to a brain defect in which there is sparseness of tissue in the visual part of the brain. If these people are asked to do tasks in which one has to find the spatial relationship and the brain is scanned by fMRI, they show weaker dorsal area activity found in the top and back part of the brain. This area is responsible for vision and spatial relations.

In an experiment in which both persons with Williams Syndrome and Down Syndrome were asked to copy picture, it was found that the first type of persons drew all the smaller details and those of the later type drew only the big picture.

Treatment of Williams Syndrome

Williams syndrome is diagnosed using blood test to identify the missing of the part of chromosome 7. Persons with Williams syndrome lead full and active life in their entire course of living. But one has to remain alert about the possible problems that may crop up in their life and be ready to address the same immediately. An expert team is needed to be formed of doctors, nurses and occupational speech therapists.

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