Picture this: A young boy who can recite all the classic novels word for word but can’t add ten and five. A middle aged woman who can’t tell right from left but can play the toughest classical music without missing a beat. A teenager who can speak twenty different languages but can’t understand the usual slang of their age group. All three of these people have Williams syndrome, a rare genetic disorder that can cause this unusual varying of skills.

Named after Dr. JCP Williams of New Zealand, the discovery of Williams syndrome (WS) occurred in the early 1950s when Williams noticed an unusually high rate of children having heart surgery for very similar conditions. Upon further investigation, he also found that all the children also seemed to have very similar physical features. Williams’ discoveries were printed in medical journals in the early 1960s, prompting several offers to work in American clinics. He declined, and instead moved to London to work in another hospital. Not long later, in events that remain unexplained, Williams went missing and was never found. Nonetheless, research into WS has continued and thrived over the years.

WS is a complicated disorder in that it presents with so many different symptoms, ranging from physical features to behavioural and chronic medical conditions. The most common characteristic in all WS patients is their unique facial features. Often called pixieism or elfin-face syndrome, people with WS have features that most would say look like those of fairytale elves or pixies. Some of these characteristics include a wide mouth, full lips and cheeks, broad forehead, sharp chin, depressed nasal bridge and sometimes a star shaped pattern in the iris of their eye. They are also fairly short in stature, and fine-boned.

WS also presents itself in a variety of unusual behavioural skills and issues. Like the fairytale folk with whom they are associated, children with WS are very cheerful and social. They will have no problem with meeting new people or going up to strangers just to chat. Though their language skills are often slow to develop at first, once started, a WS child quickly becomes very articulate and incredibly outgoing, so much so that the syndrome is often called “cocktail-party syndrome”.

Unfortunately, along with the over-friendliness, WS patients have a hard time following directions and applying things learned to situations, making it hard to teach children not to talk to strangers.

WS shares many symptoms with autism, which is another development disorder, though it is not genetic, while WS is. Attention deficit disorder (ADD), difficulty understanding the mindset of conversational partners, sudden tantrums, sensitivity to noise, many phobias and anxieties, and the increased possibility of savantism (a condition whereby individuals have social difficulties making it challenging to function in society, but have extremely high level abilities in specific fields such as math or music) are just some of the similarities between the two disorders. One major difference, however, is social interaction – the ways in which WS patients engage with others is often significantly different from the ways in which individuals with autism will interact.

Musical savantism is a very common “symptom” among WS patients. Many researchers connect this to the expert hearing that in seen in so many people with the disorder. Other research shows that there is a higher percentage of people with the syndrome that have absolute or perfect pitch compared to the general population. Music is also commonly used as a type of therapy for children with WS, as it often helps them keep their attention on the task at hand.

Though the above symptoms are somewhat manageable and are not life threatening, the more medical aspects of WS cannot be said to be the same. As infants, WS children are often colicky, irritable, have feeding problems causing insufficient weight gain, and suffer from a general failure to thrive. The most common and most harmful health issues pertaining to WS are cardiovascular problems, particularly aortic and pulmonary stenosis, a narrowing of the aortic and pulmonary valves which impedes blood flow to the lungs and rest of the body. WS patients often have to go through several heart surgeries during their lifetimes.

WS is a completely genetic disorder, though there is a 50 per cent chance that someone with WS could pass it on if they decided to have children. Research has revealed that WS is caused by missing genetic material on chromosome seven. Often, there are more than 20 genes missing, several of which could contribute to the physical characteristics of the disorder. The only sure way of knowing whether your child has WS is through the FISH test, or fluorescent in situ hybridization. This technique detects the presence - or in the case of WS, the absence - of a specific DNA sequence or chromosome. With WS, the FISH test is used to see if the patient is missing the elastin gene on chromosome seven. Researchers believe that it is the absence of the elastin gene that causes such frequent heart problems.

Unfortunately, there is no known cure for WS; rather, specific treatments for each symptom can be used to help WS patients. Cardiovascular monitoring is most important when it comes to the medical side of WS, and early intervention programs are the main focus with regard to the behavioural side. Though most people with WS never become fully self-sufficient, associations like the Canadian Association for Williams Syndrome and their programs help to teach people with WS how to use their variety of skills to their advantage so they can live as independantly as possible.