Williams syndrome, sometimes known as Williams-Beuren syndrome, is a rare genetic condition named after the doctor who first described it.
How rare? Well, different sources estimate that it affects one in 8,000 or 25,000 births, depending on the website you read. That’s pretty weird.
It is a genetic condition, which means that it is caused by something in the affected person’s genes. This is usually a random event. It doesn’t happen because of something the mother did during the pregnancy or because of something you could have prevented. It just happens randomly from time to time, although if someone with Williams syndrome (WS) has children, there is a 50% chance of passing the condition on to one of her children. More information on the genetic basis of WS can be found in other articles in this series and on various websites on the Internet.
The syndrome was first named in 1961 by a New Zealand-based Dr. Williams. The fact that this is a “syndrome” means that there are several characteristics and that not all affected people show all the symptoms of Williams Syndrome or to the same degree. I guess this also emphasizes that affected people are also unique individuals who have some things in common. Today it is possible to carry out a genetic test to confirm any diagnostic suspicion of Williams Syndrome.
Some of the things you may notice are that children often show developmental delay and perhaps feeding problems such as colic or vomiting. This is often described as a failure to thrive.
Parents may also be concerned that children learn to walk later than most toddlers and are slow to develop speech. However, they do catch up later, so this delay is just a sign to watch out for, as it often raises concerns.
As they get a little older, you may notice that Williams children have a fascination with music, listening to it, singing or playing instruments; listening to music can affect them deeply. Their speech also develops fluently after a slow start and children with WS are often described as being overly friendly and very comfortable in the presence of adults, even strangers.
Most people with symptoms of Williams Syndrome have some degree of learning difficulty, particularly with regard to math or numbers, and whether they are children or adults, they often have a characteristic “look”. They are often shorter than their siblings, and their faces display common features including slightly prominent eyes, a smaller, snubbed nose, a longer-than-average space between the nose and upper lip, and small or widely spaced teeth that are often they are visible through the open mouth. The overall effect is sometimes described as a “pixie face”.
If you suspect symptoms of Williams Syndrome in a child or adult, it’s worth seeing a doctor and perhaps seeking genetic testing. You only need a small blood sample to be taken and tested. There are a number of medical conditions associated with Williams syndrome, probably directly related to the genetic deletion. These medical conditions will appear at different times and should be monitored in a person with WS to ensure good health throughout life.
Someone with this syndrome can live a full and happy life if given the right support and I am happy to start sharing some of the information you need to make this happen.