Kabuki Syndrome
Kabuki syndrome (also known as Niikawa-Kuroki syndrome) is a rare disorder. There are more than 300 individual cases published worldwide, but many more that are not published. It was first described in 1981 by Niikawa and Kuroki who observed several children with similar characteristics.
Signs and symptoms
There are many features which can occur in children with Kabuki syndrome. Not all these features are seen in every child. Features seen in Kabuki syndrome are:
Distinctive facial features, such as
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Wide eyes with arched, interrupted eyebrows.
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Large and low-set ears.
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Depressed nasal tip (or squashed nose).
Short stature
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Most children with Kabuki syndrome are below the 50th percentile of height for their age. Some children will have growth hormone deficiency.
Skeletal abnormalities
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Short fingers
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Loose joints
Neurological abnormalities
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Almost all individuals with Kabuki syndrome have intellectual disability, varying from mild to moderate.
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It is common for young infants to seem 'floppy'.
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Some children may have seizures that require epilepsy medication to control.
Other abnormalities are sometimes seen:
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Cleft lip and palate
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Ear infections and hearing loss
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Problems with the heart, urinary tract (including kidneys) and genitals
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Digestion problems
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Problems with their immune systems
Key points to remember
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The cause of Kabuki syndrome is not known. It is thought to be a genetic problem and research is ongoing to try to identify the cause. In most cases of Kabuki syndrome, there is no family history of the syndrome. Kabuki syndrome is found in males and females equally.
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There is no cure for Kabuki syndrome but there is a lot that can be done to ensure good health in a person with Kabuki syndrome and to make sure that each person achieves their full potential.
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Health care professionals that are likely to be involved include a paediatrician, geneticist and other specialists depending on the problems in the child. Most children will require the input of speech therapists, physiotherapists and other allied health professionals.
For more information
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SAKKS support group www.sakks.org (A support group for Aussie Kids with Kabuki Syndrome).
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Genetic Health Victoria www.genetichealthvic.net.au/
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Many thanks to SAKKS parent support group for helping develop this factsheet. Produced in consultation with Genetic Health Victoria. First published in May 2007. |