Kids Health Info

Kabuki Syndrome

  • Kabuki syndrome (also known as Niikawa-Kuroki syndrome) is a rare disorder. There are more than 300 individual cases published worldwide, with many more that are not. 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 include:

    Distinctive facial features, such as:

    • Wide eyes with arched, interrupted eyebrows.
    • Large and low-set ears.
    • Depressed nasal tip (or squashed nose).

    Short stature 

    • Most children with Kabuki syndrome are below the 50th percentile of height for their age. Some of these children will have growth hormone deficiency.

    Skeletal (bone) abnormalities

    • Short fingers.
    • Loose joints.

    Neurological abnormalities

    • Almost all individuals with Kabuki syndrome have intellectual disability, varying from mild to moderate. 
    • It is common for young infants to seem 'floppy'.
    • Some children may have seizures that need to be controlled with epilepsy medication.

    Other abnormalities include:

    • Cleft lip and palate.
    • Ear infections and hearing loss.
    • Problems with the heart, urinary tract (including kidneys) and genitals.
    • Digestion problems.
    • Problems with their immune systems.

    Key points to remember

    • The cause of Kabuki syndrome is not known. It is thought to be a genetic problem and research is ongoing to try to find 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.
    • While there is no cure for Kabuki syndrome, 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.
    • Health care professionals that are likely to be involved include a paediatrician, geneticist and other specialists depending on the problems experienced by the child. Most children will require the input of speech therapists, physiotherapists and other allied health professionals.

    For more information

    Many thanks to SAKKS parent support group for helping develop this factsheet. 
    Produced in consultation with Victorian Clinical Genetics Service (VCGS)
    First published in May 2007. Updated October 2010.

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This information is intended to support, not replace, discussion with your doctor or healthcare professionals. The authors of these consumer health information handouts have made a considerable effort to ensure the information is accurate, up to date and easy to understand. The Royal Children's Hospital, Melbourne accepts no responsibility for any inaccuracies, information perceived as misleading, or the success of any treatment regimen detailed in these handouts. Information contained in the handouts is updated regularly and therefore you should always check you are referring to the most recent version of the handout. The onus is on you, the user, to ensure that you have downloaded the most up-to-date version of a consumer health information handout.