Kabuki syndrome Dr Trisha Macnair An unusual facial appearance is common in people with the syndrome.

In this article

What is Kabuki syndrome? Symptoms

Causes and risk factors Treatment and recovery

Kabuki syndrome is a rare condition that produces characteristic physical features, developmental abnormalities and learning difficulties. It is named after a Japanese traditional theatrical form because the visual symptoms are similar to the actors' make-up.

In Japan, it has been estimated that about one in 32,000 babies is born with Kabuki syndrome (which could mean about 50 cases a year in the UK). Although originally reported in Japan, cases have now been described around the world.

People with the syndrome have an unusual facial appearance, characterised by large eyes, long and thick eyelashes and arched eyebrows.

Infants are usually have normal birth weight, but most will not grow as quickly as expected. Delay in speech and language development is very common. Many infants also have problems feeding.

Kabuki syndrome is very complex and there are many other manifestations.

The cause is unknown - a genetic abnormality is suspected but has not yet been identified.It's likely that if a gene is involved it's a rare and random mutation that occurs sporadically.

There's no cure but medical procedures and therapies can often help symptoms, and support at school and at home can help the children reach their full potential. Life expectancy is probably normal, although as it is such a newly recognised disease there is little data available. No prenatal test is currently available.

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