Williams syndrome Dr Rob Hicks Only one in every 30 GPs will encounter a patient with Williams syndrome.

In this article

What is Williams syndrome?

Symptoms

Treatment and recovery

Williams syndrome is a rare congenital abnormality, which is caused by deletion of the gene that makes the protein elastin from chromosome 7. This protein is responsible for providing strength and elasticity to blood vessel walls.

The syndrome leads to medical and developmental problems. It's not thought to be inherited, as the chromosome abnormality occurs randomly and is unpredictable.

Children with Williams syndrome usually have distinctive physical characteristics. These include 'elfin' facial features, such as:

• Upturned nose
• Widely spaced eyes
• Wide mouth with full lips
• Small chin
• Slightly puffy cheeks
• Irregular, widely spaced teeth

Babies with Williams syndrome may have a low birth weight and experience difficulty feeding and gaining weight. It's usually clear there are developmental problems - children with the syndrome may not talk until the age of three.

There may be some degree of learning disability and problems with coordination and balance. High energy levels mean children with the syndrome talk excessively, often in an inappropriate, adult manner (referred to as ‘cocktail party’ personality), and will be overactive, making sleep a real challenge.

Children and adults with Williams syndrome are very sensitive and extremely polite. In particular, children tend not to fear strangers, show a great interest in contact with adults and may have problems forming relationships with their peers.

They have very sensitive hearing, so they may be startled easily by loud noises.

One of the first signs of Williams syndrome is some type of heart or blood vessel problem. Usually, this is because part of the aorta or the pulmonary arteries has narrowed, causing a heart murmur.

Sometimes this narrowing isn't severe and simply needs regular monitoring. At other times, surgery may be necessary. It's important blood pressure is checked regularly because it's more likely to be raised when the blood vessels are narrowed.

Calcium levels can be high in babies, but rarely persists beyond 3 years.

Diagnosing Williams syndrome is confirmed by a blood test, which identifies that part of chromosome 7 is missing.

Most adults and children with Williams syndrome lead full, active and healthy lives, but it's important to be aware of the possible problems that may arise and to address them as soon as possible. For this reason, an expert team is needed that includes doctors and nurses, as well as the skills of occupational speech therapists, physiotherapists and teachers.

This article was last medically reviewed by Dr Orlena Kerek in March 2009