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Diagnosis of Williams Syndrome

My little girl is happy, positive, loving, caring and well-adjusted. She’s very social, and everyone adores her. She hugs you if you’re sad, and she tries to engage anybody. To know her is to love her. She’s our little ray of sunshine, and she touches so many lives. She has Williams Syndrome.

Diagnosis of Williams Syndrome


Diagnosis is not easy as effects vary considerably but the different clues can be added up to produce a near-certainty. The cause of Williams Syndrome is a micro deletion of part of chromosome 7 which includes the Elastin Gene. A blood test (called the FISH technique) can establish if the Elastin Gene is in fact missing.


What are the clues: Physical

  1. Facial Features. All the children have a facial similarity, referred to as 'elfin' features. They include a wide mouth, with large, slack bottom lip; very retrousse nose with flattened bridge; slightly 'bulgy' cheeks; irregular teeth widely spaced; sometimes a squint.

  2. Early Problems. These can include low birth weight, often after being 'late for dates', slow weight gain - sometimes weight loss; below average growth; very slow feeding, restless sleeping and irritability; sometimes a hernia, a squint and excessive vomiting leading to dehydration and constipation. A raised calcium level is found in some babies.

  3. Heart Problems. All Williams Syndrome individuals appear to have a slight narrowing of the aorta above the valve, in many cases insignificant but occasionally leading to more serious heart defects.


What are the clues: Psychological

  1. Hyperactivity in early years; extreme uninhibited behaviour, excessive talking, in an inappropriate and 'adult' manner, over-friendliness with strangers; compulsion to talk to adults, while being unable to make friends with peers. High verbal ability leading to artificial expectations of matching mental ability. Obsessional interest in certain things: e.g. cars, trains, hoovers, wheels, etc. Fear of heights, open stairs, uneven surfaces. Very short concentration span adding to learning difficulties, high distractibility. Emotional immaturity exhibited by over-reaction to events, and exaggerated displays of fear, excitement, sadness, happiness etc.

  2. Hypersensitivity to Noise. This is the clue most common to all Williams Syndrome children: about 90% show great distress on hearing sudden loud noises, such as guns firing, balloons bursting, Christmas crackers, fireworks, etc.



WS Insights
Sep, 2023   2023 Ignatian Children's Holiday Camp Learn More  

Sep, 2023   On Sunday 24th September, 2023 my preschool will be taking part in a “WALK-A-THON” to help raise awareness and funds for Williams Syndrome. Learn More  

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Williams Syndrome Australia is a non-profit organization that strives to enrich the lives of individuals and families affected by Williams syndrome and similar conditions through support, research and education.

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