Overview
Williams syndrome describes a set of features seen due to the deletion of around 1.5-1.8 million bases on chromosome 7q11.23. It is rare and autosomal dominant, but most cases occur de novo.
Epidemiology
- Williams syndrome is thought to affect around 2 in 100,000 births
Presentation
- ‘Elfin-like facies’ – facial features similar to the appearance of elves
- Short stature
- Learning difficulties
- ‘Starburst pattern’ – a white, lacy pattern seen if the person has blue or green eyes
- Extroverted, very social, and friendly personality
- Hypercalcaemia
- Supravalvular aortic stenosis
