Kids Health Info

Kabuki syndrome

  • Kabuki syndrome is a rare genetic disorder that occurs in around one in 32,000 births. It was first described in 1981 by scientists Norio Niikawa and Yoshikazu Kuroki who observed several children with similar characteristics. Kabuki syndrome is also known as KMS or Niikawa–Kuroki syndrome.

    Children with Kabuki syndrome may have a number of features in common, including distinctive facial features, skeletal (bone) abnormalities, neurological (brain) abnormalities and various health problems.

    There is no cure; however, a range of health professionals can help manage your child's health challenges and help them reach their full potential.

    Signs and symptoms of Kabuki syndrome

    There are many characteristics that can occur in children with Kabuki syndrome, but not all of these are seen in every child. If your child has Kabuki syndrome, they may have:

    • wide eyes with arched, interrupted eyebrows (a gap in the eyebrows)
    • large and low-set ears
    • a flat nasal tip (or squashed-looking nose)
    • short stature (most children with Kabuki syndrome are below the 50th percentile of height for their age)
    • skeletal abnormalities (e.g. short fingers, loose joints, 'floppiness' when they are infants)
    • intellectual disability, varying from mild to moderate 
    • cleft lip and palate
    • frequent ear infections and hearing loss
    • problems with the heart, urinary tract (including kidneys), digestion and genitals
    • weaker than normal immune systems
    • seizures that need to be controlled with epilepsy medication.

    When to see a doctor

    Often, children with Kabuki syndrome will display some of the medical problems at birth. For some children, the condition becomes more apparent over time, and you (or your Maternal and Child Health Nurse) may notice that your baby is not developing normally.

    If your child has some of the signs of Kabuki syndrome or you are worried at all, see your GP. You may be referred to a geneticist.

    Treatment for Kabuki syndrome

    Treatment for Kabuki syndrome depends on the symptoms and needs of the child. There are a lot of things that can be done to ensure your child is in good health if they have Kabuki syndrome, and to help them reach their full potential.

    Health care professionals that are likely to be involved in your child's care include a paediatrician, geneticist and other specialists depending on the problems your child experiences. Most children will require the input of speech therapists, physiotherapists and other allied health professionals.

    What causes Kabuki syndrome?

    The cause of Kabuki syndrome is not known, and research is ongoing to try to find the cause. It is thought to be a genetic problem. Parents of affected children are seldom affected themselves, meaning it is usually a new genetic change. Kabuki syndrome is found in males and females equally.

    Key points to remember

    • Kabuki syndrome is a rare genetic disorder characterised by a range of features.
    • It may be diagnosed soon after birth, or it may become more apparent over time as the child shows some developmental problems.
    • Common characteristics include distinctive facial features, short stature and skeletal abnormalities, and mild to moderate intellectual disability.
    • Your child may be treated by a paediatrician, geneticist and other specialists depending on the problems they experience.

    For more information

    Common questions our doctors are asked

    If my child has Kabuki syndrome, how likely is it that any future children I have will also be affected?

    It is very unlikely as the genetic abnormality that causes Kabuki syndrome is usually a new change, where the parents are not affected. This is something you should discuss with your child's geneticist. Genetic testing is available for adults.

    What is the long-term outlook for children with Kabuki syndrome?

    Because Kabuki syndrome is so rare, it is difficult to know what the long-term outlook will be. Every child is affected in different ways. Generally, people with Kabuki syndrome have a normal life-span, but require ongoing medical supervision and support.

    What support can I access for my child?

    Your paediatrician or geneticist can provide you with support, and there are online forums and groups dedicated to parents of children with Kabuki syndrome.


    Developed by The Royal Children's Hospital and SAKKS, in consultation with the Victorian Clinical Genetics Service. We acknowledge the input of RCH consumers and carers. 

    Reviewed June 2018. 

    Kids Health Info is supported by The Royal Children’s Hospital Foundation. To donate, visit www.rchfoundation.org.au

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Disclaimer
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.