What Is Williams Syndrome?


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 between one in every 8,000 or 25,000 births, depending on which website you read. That’s pretty rare.

It’s a genetic condition, meaning it is caused by something in the genes of the person affected. This is usually a random event. It doesn’t happen because of something a mother did in pregnancy or something you could have avoided. It just happens at random every now and then, though if someone with Williams Syndrome (WS) has children themselves, there is a 50% chance of passing the condition onto one of their children. More information on the genetic basis of WS can be found in other articles in this series and on a number of websites on the internet.

The syndrome was first named in 1961 by a Dr Williams based New Zealand. The fact that this is a “syndrome” means that there are several features and that not all affected people show all of the Williams Syndrome symptoms or to the same degree. I guess this also emphasises that people affected are also unique individuals who have some things in common. Today it is possible to have a genetic test to confirm any suspected Williams Syndrome diagnosis.

Some of the things you might notice are that children often show delayed development and maybe feeding problems such as colic or vomiting. This is often described as a failure to thrive.

Parents may also be worried that children learn to walk later than most toddlers and are slow to develop speech. They do catch up later though so this delay is just a sign to watch out for as it often raises concerns.

As they get a little older you might notice that Williams children have a fascination for music, listening to it, singing along or playing instruments; hearing music can affect them deeply. Their speech also develops fluently after a slow start and children with WS are often described as over-friendly and are very comfortable with the presence of adults, even strangers.

Most people with Williams Syndrome symptoms have some degree of learning difficulty, particularly as applied to math or numbers, and whether as children or adults, they often have a characteristic “look” about them. They are often shorter in height than any siblings and their faces show common features including slightly prominent eyes, a smaller upturned nose, a longer than average gap between nose and upper lip and small or widely spaced teeth are often visible through an open mouth. The overall effect is sometimes described as an “elfin face”.

If you suspect Williams Syndrome symptoms in a child or adult, it is worth getting medical advice and maybe seeking a genetic test. It only needs a small blood sample to be taken and analyzed. There are a number of medical conditions associated with Williams Syndrome, probably related directly to the genetic deletion. These medical conditions will appear at different times and should be monitored in a person with WS to ensure they maintain good health throughout life.

Someone with this syndrome can live a full and happy life if supported appropriately and I’m happy to begin to share some of the information you need to make this happen.