About Kabuki syndrome

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

Kabuki syndrome is a lifelong genetic condition. It’s caused by changes in at least 2 different genes. In most cases there’s no family history of the syndrome.

Kabuki syndrome is a rare condition, which happens in approximately 1 in 32,000 births. Because it can be hard to diagnose Kabuki syndrome, there might be children and teenagers who have the syndrome but who haven’t been diagnosed.

This syndrome is sometimes known as Niikawa-Kuroki syndrome.

Signs and symptoms of Kabuki syndrome

Physical characteristics
Children and teenagers 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.

They can also have:

• short fingers and prominent finger pads
• skeletal abnormalities like scoliosis and very flexible joints
• low muscle tone
• early puberty.

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

Children and teenagers 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 and teenagers 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

If your child has Kabuki syndrome, early intervention is the best way to support their 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 and other carers 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 clinical geneticists, genetic counsellors, occupational therapists, paediatricians, physiotherapists and speech pathologists.

Working in partnership with your child’s professionals is very important. 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 and teenagers with Kabuki syndrome

If your child has a confirmed diagnosis of Kabuki syndrome, you might be able to get support from the National Disability Insurance Scheme (NDIS). The NDIS can help you get services and support in your community. The NDIS might also fund things like early intervention therapies or one-off items like wheelchairs.

Looking after yourself and your family

It’s important to look after yourself physically, mentally and emotionally. 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. Your GP is there to give you and your child ongoing care and support.

A genetic counsellor might be able to help you understand how the change in your child’s genes happened. They can also help you learn about the condition and adapt to having a genetic condition in your family.

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.