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What is Kabuki syndrome?
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.
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Symptoms
People with the syndrome have an unusual facial appearance, characterised by large eyes, long and thick eyelashes and arched eyebrows.
Infants 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.
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Causes and risk factors
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.
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Treatment and recovery
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.
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.
Top
Symptoms
People with the syndrome have an unusual facial appearance, characterised by large eyes, long and thick eyelashes and arched eyebrows.
Infants 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.
Top
Causes and risk factors
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.
Top
Treatment and recovery
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.