Williams Syndrome Symptoms

If you’re searching for this information the chances are that you know someone who has, or may have Williams Syndrome.

My sister was only diagnosed in her 40s. My parents struggled to understand what was happening with their child…  I hope most people are now diagnosed as children and have much better support from various medical professionals.

Just in case you don’t here’s a list of some of the things to look out for:

Williams Syndrome Symptoms include:

As parents, things that you tend to notice first are that very young children can have problems feeding (colic, reflux, vomiting) and they may “fail to thrive”.

As an 8 year old sister to a new baby in the house I just remember the seemingly constant crying…

Childrens development is often delayed in many ways, they are often slow to speak and can be slow to learn to walk. Once mobile, they are often highly active and into everything. Even when she could only crawl you couldn’t take your eyes of Linda for a moment as she literally was into everything! I guess that’s why it’s said many Williams children may show signs that would be associated with hyperactivity syndromes like ADHD.

Most people with Williams Syndrome (WS), have a characteristic “look” about them, a Williams Syndrome appearance. They are often shorter in height, smaller than any siblings and their faces show common features including slightly prominent or puffy 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. A small, slightly pointed chin completes this “elfin-face” appearance.

Teeth, when they erupt, can be unevenly spaced, some may be missing and they can have weak or damaged enamel. The teeth are usually very visible through that infectious, wide-mouthed smile.

Less visible symptoms of Williams Syndrome are medically every bit as important.

The genetic deletion removes one copy of the gene for elastin, a protein which occurs in many places but particularly in the muscles lining our arteries. This elastin deficiency may contribute to problems with blood vessels (aortic stenosis or renal artery stenosis) which can be too narrow or to heart murmurs. These should be actively monitored throughout life.

Some children are more susceptible to hernias and as adults, Williams people are more likely to develop diverticulitis at an earlier age than expected, again possibly related to the elastin deficiency.

Some affected children also show hypercalcaemia, that is, too much calcium which can lead to deposits of calcium in the kidneys. This can be monitored though it is sometimes good to avoid giving children with WS calcium supplements.

Many Williams people also have issues with urination and/or constipation, conditions which again need monitoring and management. Toilet training can be a real issue for parents or carers of affected children and these problems can affect adults too. It’s one of those things that’s not nice to talk about but is a real issue to be dealt with by many familes. Living with Linda it’s all too apparent that she sometimes needs several changes of clothes each day… we can’t go out of the house without being prepared to deal with “an accident”.

You’ll probably notice your Williams person being very sensitive to certain types of sound… sirens, motors, thunder… much more than your average child.

On the positive side, Williams children do learn to talk, even if this is delayed. They are often very skilled, appearing very friendly and talkative. They connect well with people, particularly adults, even strangers. They have conversations that are both delightful and surprising as they often talk in a way that seems unusual for children. While this often makes them very likeable, they sometimes ask inappropriate or persistent questions as they don’t quite understand social boundaries and it can also make them vulnerable as they are so trusting of strangers.

Even as children, Williams people often have a real love for music and can enjoy performing. They certainly seem to enjoy being at the center of attention. They often show a surprising degree of proficiency, maybe intuitively playing a musical instrument or remembering tunes and words of songs almost effortlessly. Music seems to have deep emotional effects on many Williams children and adults.

Most Williams people have some degree of learning difficulty, particularly as applied to math or numbers. Some children can enter mainstream schools with some degree of support but a majority will need more specialised educational support or schooling.

While many are very able to speak fluently and some develop good, or acceptable reading and writing skills, their numeracy skills are often poor in comparison. Even simple arithmetic can be very difficult and many WS children have great difficulty counting money or telling the time.

As adults, Williams people are more likely to show signs of some type of psychosis, frequently anxiety. Again, this is something not talked about much but has certainly played a very large part in our lives.

Williams people also seem to age prematurely. Certainly their hair goes grey at a very early age. Although longer term studies on Williams Syndrome adults are few, it seems likely that there is a higher incidence of diabetes and maybe a greater tendancy to being overweight… is this due to a hormone – thyroid deficiency or a greater tendancy to tire and fatigue quickly so exercise less??

This list isn’t an exhaustive list of the possible symptoms, just the common ones and particularly, ones we are most familiar with.

Fortunately, not all people are affected by all symptoms and the only way to be certain of a diagnosis of Williams Syndrome is to genetically test someone who you suspect is affected.

We’ll talk more about the Williams Syndrome FISH test in another article so you can get the detail there.

We also have other articles explaining the genetic causes of Williams Syndrome and how these relate to the Williams Syndrome symptoms you see.

The really good news is that most of the physical symptomes can be actively managed and monitored or even treated successfully – it’s ignorance that is most likely to lead to major problems.

Do let us know if there’s anything else you think we should be adding to our WIlliams Syndrome watch list!