Williams syndrome is caused by a deletion of genetic material on one copy of chromosome 7. It is usually the result of a sporadic deletion around conception. Rarely, it may be inherited from an affected parent (autosomal dominant).
Features
Key features of Williams syndrome include:
- Broad forehead
- Short nose
- Stellate iris (a star-like pattern on the iris)
- Long philtrum
- Wide mouth with small teeth
- Micrognathia (small chin)
- Very sociable and trusting personality
- Mild to moderate learning disability
TOM TIP: The key features to remember are the very sociable personality, the starburst eyes and the wide mouth with a big smile.
Associated Conditions
- Supravalvular aortic stenosis (narrowing just above the aortic valve)
- Attention-deficit hyperactivity disorder
- Anxiety
- Hypertension (often due to renal artery stenosis)
- Hypercalcaemia (particularly in infancy and early childhood)
Management
Management is supportive with input from the multidisciplinary team. Follow-up includes monitoring for:
- Cardiovascular complications, such as aortic stenosis and hypertension (echo, ECG and blood pressure)
- Hypercalcaemia (particularly in infancy)
- Kidney function
- Dental health
- Growth and development
Last updated December 2025
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