What is Williams syndrome?

January 17, 2017 | By 456@dmin | Filed in: Uncategorized.

Williams Syndrome, also known as Williams-Beuren syndrome, a rare genetic disease named after the doctor who first described it.

How rare? Well, according to various sources it affects between one in every 25,000 births, or 8,000, depending on which website read. It & # 39; It s pretty rare.

It & # 39; and the genetic condition, which means that some of the genes causing the person concerned. This is usually a random event. This does not happen because of something the mother did in pregnancy or something that you could have been avoided. It just happens at random times, but if somebody Williams syndrome (WS) is children themselves, there is a 50% chance of passing the condition on one of their children. More information about the genetic basis of WS can be found in other articles in this series, and a number of websites on the Internet.

The syndrome was first named in 1961, Dr. Williams based in New Zealand. The fact that it is a "syndrome" means that more features, and it does not show all the people involved and the Williams Syndrome symptoms or to the same degree. I think this also shows that single people is the people involved who have some things in common. Today it is possible that a genetic test to confirm the diagnosis of any suspected Williams Syndrome.

Some things you might notice is that children often exhibit delayed development and maybe feeding problems like colic and vomiting. This is often described as a failure to thrive.

The parents are also worried that children learn to walk later than most toddlers and are slow to develop speech. They catch up later, though, so the delay is a sign that looks as it often raises concerns.

As a little older you may find that the Williams children a glamorous music, listening to it, singing or musical instruments; Hearing music can affect them deeply. The speech also develops fluently after a slow start and WS children is often described as overly friendly and very comfortable in the presence of adults, even strangers.

Most people have symptoms of Williams syndrome is a certain degree of learning, especially math or numbers used, and whether children or adults, often have a distinctive "look" about them. They are often shorter height than his brothers, and their faces show common features including slightly prominent eyes, a small nose up, nose longer than average and the gap between the upper lip and small or large circle surrounding the teeth can often be seen in the open mouth. The overall effect is sometimes described as a "mischievous face."

If you think Williams Syndrome symptoms in a child or adult, it is worth getting medical attention, and perhaps seeking a genetic test. It just needs a bit of blood samples to be taken and analyzed. A number of medical conditions related to Williams syndrome, a genetic deletion is probably directly related. These diseases appear at different times and to check a person WS to be sure to maintain good health throughout life.

Someone with this syndrome can live a full and happy life, if supported properly, I & # 39; m happy to begin to share some information you need to make this happen.

Source by Meg Collins, Ph.D.


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