Williams Syndrome is a rare congenital disorder that occurs randomly and affects around one in 18,000 people in the UK. It is non-hereditary and causes distinctive facial characteristics and a wide range of learning difficulties. Infants often have delayed development and can develop physical and mental health problems, including anxiety and depression in later life. WS people tend to be talkative and excessively friendly towards adults.
Clinical diagnosis is not always easy as the effects can vary considerably but the different clues can be added up to produce a near-certain diagnosis. The cause of Williams Syndrome is a tiny deletion of part of chromosome 7, which includes the elastin gene. A simple blood test can establish whether the elastin gene and other genes are missing.
People with WS share certain facial similarities, typically including a wide mouth, with a pronounced bottom lip; an upturned nose with flattened bridge; slightly high, rounded cheeks; irregular and/or widely-spaced teeth; starburst eyes; and a squint.
Any or all of the following symptoms may be found: low birth weight followed by slow weight gain and/or weight loss; poor feeding and excessive vomiting; sleep problems and irritability; delayed growth and delay in meeting developmental targets; raised calcium level; dehydration, constipation and hernias.
Most WS individuals have a slight narrowing of the aorta above the aortic valve. In many cases this is insignificant but it can be detected on cardiac ultrasound and should be monitored. Other more serious heart and vascular abnormalities can occur.
These may include hyperactivity in the early years and high verbal ability, leading to excessive talking and uninhibited behaviour, over-friendliness with strangers and a compulsion to talk to adults, often in an inappropriate manner. Contrarily, WS people find it hard to make or sustain friendships with people their own age. They often have obsessional interests (cars, trains, vacuum cleaners) but low cognitive ability and a short attention span. Many have hypersensitive hearing, with fears of loud noises, heights and open stairs/escalators/lifts, and often exhibit exaggerated reactions to happiness and excitement, fear and sadness.
There is no cure for Williams Syndrome because it is not an illness, and there is no way to prevent the genetic abnormality that causes it. Early diagnosis will not prevent potential problems but can lead to a better understanding and better assistance for the child. There may be raised levels of calcium (hypercalcaemia) in the blood within the first two years of life – in these cases, a low-calcium diet can stabilise the situation. Some WS children are educated in mainstream schools with assistance but the majority require the support offered in specialist schools.
The Williams Syndrome Foundation was formed as a Registered Charity in 1980, with the aims of promoting research and providing help and support for families with affected children. The Foundation acts as an information and advisory service and keeps parents in touch through magazines, events and a nationwide regional network, as well as funding holidays for WS people every year. It also keeps a register of all known WS cases and provides access to professionals to promote research to improve the lives of the WS population.
The WS Foundation is run by families for families and is funded entirely through voluntary donations. All income goes directly to research and welfare, apart from minimal administrative expenses. The Foundation is supported by a panel of eminent medical/professional advisors.