Williams syndrome

The number of conditions, diseases, syndromes and medical maladies out there at any given time can seem overwhelming. Should we worry about bird flu swine flu? SARS or small pox? Fortunately for most people, they will never come into contact with the majority of identified medical conditions. And it is a credit to our fine medical institutions, doctors and researchers today that we have been able to identify and begin to research, contain and cure all of the various syndromes, diseases and conditions that people all over the world suffer from. One such syndrome that most of us will never come into contact with is called Williams Syndrome (WS).

Williams syndrome is a congenital disease. It’s a neurodevelopmental disorder caused by the fact that about 26 genes from the long arm of chromosome 7 are not present at birth. If this seems dense or unfamiliar, note that Down’s syndrome, another congenital syndrome, is also characterized by a chromosomal abnormality. Beyond that, Williams syndrome is a peculiar condition that presents itself in many unusual ways.

For example, people suffering from Williams syndrome are said to be very sociable and outgoing, more so than the average person. They are comfortable with strangers and wonderful conversationalists. People with Williams syndrome have been shown to focus, or hyperfocus, on the eyes of people they are conversing with. This skill at conversation is highly unusual, more unusual than it would normally be, because people with Williams syndrome are also often diagnosed with mental retardation. The fact that, though their IQs may be low, they can converse so beautifully is just one of the aspects of Williams syndrome that puzzles scientists and may hold a clue to unlocking the mysteries of the condition. Those with Williams syndrome are also said to lack common sense and display other signs of inhibited intelligence and intellectual development.

Those suffering from Williams syndrome, like those suffering from its cousin chromosomal abnormality, Down’s Syndrome, are also known for their distinctive physical appearance. People with Williams have been described as “fey” or “elfin.” They generally have a low nasal bridge and widely spaced teeth, as well, which contributes to their elfin appearance. Unfortunately, Williams syndrome does not stop at altering appearance and social and mental skills. Those suffering from Williams syndrome are also at increased risk for cardiovascular difficulties which can lead to heart murmurs, constriction of the blood vessels, and eventual heart failure. Heart problems are not the Williams syndrome sufferer’s only problem. They have also been shown to suffer from elevated calcium levels in the blood, gastrointestinal problems, and hormone problems like hyperthyroidism (where the thyroid works overtime, increasing the metabolism.)

Interestingly enough, people with Williams syndrome also appears to have aural abnormalities. Those with Williams syndrome have shown symptoms of audio induced hearing loss even when that does not seem possible. Case studies have also shown that people with Williams syndrome love music more than average, and often demonstrate the rare phenomenon known as perfect pitch when singing.

Intriguingly, those with Williams syndrome also seems to be left-handed more often than not. This, combined with the fact that they excel at music and social skills – “left brain activities” – may provide a clue as to the causes of Williams syndrome.

Unfortunately, there is no cure for Williams syndrome. Instead, treatment is mostly supportive to make sure that Williams sufferers live long, happy and healthy lives. Williams syndrome was first identified by Dr. J. C. P. Williams, a New Zealand doctor practicing in 1961, though it is unknown when Williams syndrome first appeared among humans. Because it is a chromosomal disorder, Williams syndrome may very well have been around as long as mankind.

Last updated on Feb 1st, 2010 and filed under Neurological Disorders. Both comments and pings are currently closed.

1 Response for “Williams syndrome”

  1. shashank says:

    Here is a link to more information about the genetics of Chromosome Abnormalities that was prepared by our genetic counselor and which has links to some useful resource for those dealing with this condition: http://www.accessdna.com/condition/Chromosome_Abnormalities/159. There is also a number listed for anyone who wants to speak to a genetic counselor by phone. I hope it helps. Thanks, AccessDNA

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