What is Kabuki syndrome?
Kabuki syndrome causes intellectual disability and developmental delay.
Kabuki syndrome is a genetic disorder. So far scientists have discovered two gene changes or abnormalities that cause it.
Kabuki syndrome is a rare condition, which happens in 1 in 86 000 births in Australia. 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. Sometimes they might do genetic testing too, but for 20-45% of patients it isn't possible to say what gene has caused the condition.
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.
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.
Services and support for children with Kabuki syndrome
Getting information
Learning as much as possible from your specialists will help. It’s OK to ask lots of questions.
Many services and supports can help your child with Kabuki syndrome achieve her potential. But finding your way through the disability services system can be tricky. Our Disability Services Overview can help.
Financial support
If you live in a National Disability Insurance Scheme (NDIS) trial area and your child has a confirmed diagnosis of Kabuki syndrome, your child can get support under the 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.
If you don’t live in one of the NDIS trial areas, your child can get funding under the Better Start for Children with Disability initiative. If your child is eligible for the NDIS, he’ll be moved over when it becomes available in your area. Read our NDIS and Better Start FAQs for more information.
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.
Looking after siblings
Siblings of children with disability have good times and not so good times, just like everyone else. It’s important to find the right support for them too.