This syndrome is very rare. In fact there’s only one reported case of it in the UK and the USA. A person with SWS is born with the condition and it affects their skeleton.

What are the signs and symptoms of SWS?

A person with SWS is usually shorter than most people, the long bones in their arms and legs are bowed, and their fingers and toes may be flexed all the time.

A baby with SWS can have life-threatening complications, like a very high temperature and pneumonia, and usually die within the first 18 months. The baby can also have abnormal sweating when cold and not sweating when hot. This is due to an abnormal autonomic nervous system (the part of the nervous system that controls involuntary actions of the smooth muscles, heart and glands) and this is called dysatonomia. Also a person with SWS doesn’t always sense pain properly so they have to be careful not to get burned or let an infection go untreated for lack of symptoms.

What causes SWS?

It’s inherited as an autosomal recessive trait – this is where both parents carry one copy of a gene mutation for SWS.

How is it diagnosed and treated?

X-rays can show up the bowing of the bones in the arms and legs, but it can take some time to get a diagnosis. Unfortunately, SWS cannot be treated – only managed. Patients have physiotherapy, and operations to help correct the shape and growth of their bones.

What is the outlook for the future?

The syndrome does affect a person’s quality of life and might limit their life span. In the past it was thought that babies would not survive being born with SWS, but many do now.

For more help and information

The National Organisation for Rare Disorders (US) has some information on SWS at www.rarediseases.org

Last reviewed by Great Ormond Street Hospital: 6 September 2006

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