What is Kabuki syndrome?

Kabuki syndrome causes intellectual disability and developmental delay.

Kabuki syndrome is a genetic disorder. So far scientists have discovered changes in two different genes that cause it.

Kabuki syndrome is a rare condition, which affects approximately in 1 in 30 000 children. It affects boys and girls equally. 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 was first described in Japan.

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, and prominent low-set ears
• short stature
• short fingers and prominent finger pads
• skeletal abnormalities like a curved spine (scoliosis) and loose joints
• early puberty
• substantial weight gain at puberty.

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

Children with Kabuki syndrome who have normal 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
• hearing loss
• problems with their immune systems
• epilepsy
• 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

There’s no cure for Kabuki syndrome. But health professionals can treat the medical issues that come with the syndrome. For example, children with Kabuki syndrome can have medication to manage seizures.

Early intervention can make a difference. Through early intervention services, you can work with health professionals to choose treatment and therapy options to support your child, improve outcomes for your child and help your child reach her full potential.

If your child has Kabuki syndrome, several different health professionals might be able to help improve his quality of life. These professionals include paediatricians, speech pathologists, occupational therapists and physiotherapists.

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, and gives you funding for things like early intervention therapies or one-off items like wheelchairs.

Looking after yourself and your family

If your child has Kabuki syndrome, it’s easy to get caught up in looking after her. But it’s important to look after your own wellbeing too. If you’re physically and mentally well, you’ll be better able to care for your child.

If you need support, a good place to start is with your GP and genetic counsellor. You can also get support from organisations like Genetic Alliance Australia.

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, these siblings of children with disability need to feel that they’re just as important to you – that you care about them and what they’re going through. It’s important to talk with them, spend time with them, and find the right support for them too.