Williams Syndrome is a genetic condition that affects between one in every 8,000 or 25,000 births, depending on which part of the world you live in or which website you get your information from.
Either way, it’s pretty rare and most people won’t personally know someone who has Williams Syndrome or WS. The fact that you’re searching for this information suggests that you probably do know such a person!
I can offer you a long or a short version of the answer to this question… I guess I’ll post the short answer in this blog and save the long answer for my updated review of Williams Syndrome – so if you have any unanswered questions, just let me know and I’ll try to include an answer especially for you.
The syndrome was first described in 1961 by a Dr Williams based on a number of characteristics in people affected; basically four children all with aortic stenosis, learning difficulties and particular facial features.
The fact that this is a “syndrome” means that there are several features and that not all affected people show all of the symptoms or to the same degree. I guess this also emphasises that people with Williams Syndrome are also unique individuals who have some things in common.
Some of the things you might notice are that children often show delayed development, feeding problems and are slow to develop speech.
As they get a little older you might notice that they 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.
Children may show signs of hyperactivity, they – and WS adults – are often easily distracted, and may be spooked by loud noises such as sirens or thunder. You’ll often notice that they are quite happy talking to themselves!
Most people with WS 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.
There are many ongoing health and medical implications associated with a diagnosis of Williams Syndrome so you might want to check out some of the other blog posts.
In the mid 1990s researchers were able to confirm that the root cause of WS was a small deletion on chromosome 7, that means, in people with WS, a piece of genetic material that contains about 25 different genes, is missing from one of their chromosomes.