Edwards' syndrome Dr Rob Hicks This rare genetic chromosomal disorder occurs when a child is born with three copies of chromosome 18, rather than the usual two. It's also known as trisomy 18.

In this article

What are the symptoms? Who's affected?

How is it diagnosed? What's the treatment?

The features and problems that develop in children with Edwards' syndrome vary from child to child.

Typically, a child will have a small head with characteristic facial features including a small jaw and mouth, upturned nose, widely spaced small eyes with narrow eyelid folds and drooping of the upper eyelids, and low-set, malformed ears.

The hands may be clenched, with the second and fifth fingers overlapping the other fingers, and the thumbs may be underdeveloped or absent. Webbing of the second and third toes may also occur.

In addition to these features, all systems of the body may be affected. Structural malformations of the heart, kidneys, brain, digestive tract and genitals may be present and cause the child difficulties. For example, children with the syndrome often have trouble feeding and breathing, and experience delay in growth and development. Infections of the lungs and urinary system are also common.

Edwards' syndrome occurs in around one in 6,000 live births and around 80 per cent of those affected are female. However, the majority of babies with the syndrome die before birth.

It affects people from all cultural backgrounds and becomes more likely with increasing maternal age.

At birth, if physical characteristics suggest the possibility of Edwards' syndrome, this can be confirmed with genetic testing.

An ultrasound during pregnancy can often identify foetal abnormalities, providing the opportunity for genetic testing by amniocentesis.

There's no cure for Edwards' syndrome, but medical treatment of symptoms is provided as required.

Treatment focuses on providing good nutrition, tackling infections - which arise frequently - and helping the heart to function better.

Many babies with Edwards' syndrome have difficulties with feeding, so food may be given via a nasogastric tube or directly into the stomach through a gastrostomy. Where limb abnormalities affect movement, physiotherapy and occupational therapy can help.

Emotional support for parents and other members of the family is vital, as babies with Edwards' syndrome have a shortened life expectancy. Few survive beyond their first year.

This article was last medically reviewed by Dr Rob Hicks in February 2008