• Skip to content
  • Skip to navigation
Raising Children Network
  • Pregnancy
  • Newborns
  • Babies
  • Toddlers
  • Preschoolers
  • School age
  • Pre-teens
  • Teens
  • Grown-ups
  • Autism
  • Disability

About Kabuki syndrome

Kabuki syndrome causes mild to moderate intellectual disability and developmental delay.

Kabuki syndrome is a genetic disorder. It’s caused by changes in at least 2 different genes.

Kabuki syndrome is a rare condition, which affects approximately 1 in 32 000 children. In most cases there’s no family history of the syndrome.

Because it can be hard to work out whether a child has Kabuki syndrome, there might be children who have the syndrome but who haven’t been diagnosed.

This syndrome is sometimes known as KMS or Niikawa-Kuroki syndrome.

Signs and symptoms of Kabuki syndrome

Physical characteristics
Children with Kabuki syndrome can have:

  • distinctive facial features like a flattened nose, long eyelids, wide-apart eyes, arched and often interrupted eyebrows, a small mouth or jaw, and prominent, low-set ears
  • short fingers and prominent finger pads
  • skeletal abnormalities like scoliosis and very flexible joints
  • low muscle tone
  • early puberty.

Cognitive signs
Most children with Kabuki syndrome have mild to moderate intellectual disability.

Children with Kabuki syndrome who have typical intelligence can have problems with fine motor skills, speech skills and memory.

Medical concerns linked to Kabuki syndrome
Children with Kabuki syndrome can have other medical concerns like:

  • heart problems
  • urinary tract problems
  • frequent ear infections
  • diabetes and other endocrine system problems
  • hearing loss
  • problems with their immune systems
  • epilepsy and seizures
  • digestion problems.

Diagnosis and testing for Kabuki syndrome

Kabuki syndrome can be hard to diagnose, partly because symptoms can appear over time and doctors might not be familiar with the condition.

On top of this, every child with Kabuki syndrome has a slightly different set of signs and symptoms.

Health professionals usually diagnose Kabuki syndrome by looking for the distinctive facial features of the syndrome, as well as other characteristics. Genetic testing can confirm the diagnosis.

Early intervention services for children with Kabuki syndrome

Early intervention is the best way to support your child’s development. Early intervention includes therapies, education and other supports that will help your child reach their full potential.

Early intervention should also include helping you learn how to spend time with your child in ways that support their development. Children learn the most from the people who care for them and with whom they spend most of their time, so everyday play and communication with you can help your child a lot.

You and your child will probably work with many health and other professionals as part of your child’s early intervention. These professionals include paediatricians, speech pathologists, occupational therapists, physiotherapists, clinical geneticists and genetic counsellors.

It’s good to see yourself as working in partnership with your child’s professionals. When you combine your deep knowledge of your child with the professionals’ expertise, you’re more likely to get the best outcomes for your child.

Financial support for children with Kabuki syndrome

If your child has a confirmed diagnosis of Kabuki syndrome, your child can get support under the National Disability Insurance Scheme (NDIS). The NDIS helps you get services and support in your community. It also gives you funding for things like early intervention therapies or one-off items like wheelchairs.

Looking after yourself and your family

Although it’s easy to get caught up in looking after your child with Kabuki syndrome, it’s important to look after your own wellbeing too. If you take care of yourself, you’ll be better able to care for your child.

If you need support, you could start by talking with your GP or a genetic counsellor. You can also get support from organisations like Genetic Alliance Australia and Genetic Support Network of Victoria.

Talking to other parents can be a great way to get support too. You can connect with other parents in similar situations by joining a face-to-face or an online support group.

If you have other children, they might have a range of feelings about having a sibling with disability. They need to feel that they’re just as important to you as your child with disability – that you care about them and what they’re going through. It’s important to talk with your other children, spend time with them, and find the right sibling support for them.

Supported By

  • Department of Social Services

Raising Children Network is supported by the Australian Government. Member organisations are the Parenting Research Centre and the Murdoch Childrens Research Institute with The Royal Children’s Hospital Centre for Community Child Health.

Member Organisations

  • Parenting Research Centre
  • The Royal Children's Hospital Melbourne
  • Murdoch Children's Research Institute

Follow us on social media

  • Facebook
  • Instagram
  • YouTube
  • Twitter
Sign up now to get free parenting news delivered to your inbox.
Aboriginal flag (c) WAM Clothing
Torres Strait Islands flag
At raisingchildren.net.au we acknowledge the traditional custodians of the land on which we live, gather and work. We recognise their continuing connection to land, water and community. We pay respect to Elders past, present and emerging.
  • Privacy statement
  • Terms of use

© 2006-2023 Raising Children Network (Australia) Limited. All rights reserved.

Warning: This website and the information it contains is not intended as a substitute for professional consultation with a qualified practitioner.

This website is certified by Health On the Net Foundation (HON) and complies with the HONcode standard for trustworthy health information.