Kabuki syndrome is a rare genetic disease that can affect your child’s facial features, musculoskeletal system and many other organs and body systems. The symptoms of the condition vary widely from child to child, but most have distinctive facial characteristics and skeletal malformations. A genetic mutation in one of two genes causes the disease.
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Kabuki syndrome is a rare genetic condition that can affect many different parts of your child’s body. Although the disease is present from birth (congenital), your baby may or may not show any signs of the condition as a newborn. It may take several years for symptoms to develop. The specific features and the severity of your child’s condition may vary. Your child may have:
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Two Japanese scientists discovered Kabuki syndrome in 1981. One of the scientists named the disease Kabuki makeup syndrome because the facial features of many children with the condition resembled the stage makeup worn by Kabuki dancers. Kabuki is a traditional form of Japanese theater. Scientists have since dropped the word “makeup,” and the preferred name for the condition is Kabuki syndrome.
Kabuki syndrome is a genetic condition that can affect anyone. Although researchers in Japan first discovered the disease, healthcare providers now diagnose the condition in people of many different ethnicities.
Kabuki syndrome is very rare but exact numbers are unknown. Around the world, estimates range from between 1 in 32,000 and 1 in 86,000 newborns born with the condition. Scientists believe between 3,000 and 30,000 people are living with the disease in the United States.
Some Kabuki syndrome signs are present at birth (congenital). Others become more apparent as your child gets older. The specific signs and symptoms your child develops may vary. The severity of your child’s symptoms can vary as well. Kabuki syndrome can affect a wide variety of your child’s organs and body systems.
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The five most common features of Kabuki syndrome include:
Your child may develop other signs and symptoms depending on the severity of their condition.
Facial features
Some children with Kabuki syndrome may develop behavioral issues. The most common psychiatric/behavioral issues are found in a subset of children with the condition. These include ADHD/hyperactivity, anxiety disorder, self-harming behaviors, sleep disturbances and autism. Signs of these issues may include:
Kabuki syndrome can affect multiple other organs and body systems. Other signs of the condition may include:
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A genetic change or variant (mutation) in one of two genes causes Kabuki syndrome. A mutation of the KMT2D gene (formerly known as MLL2) is responsible for about 75% of all cases. This is sometimes called Kabuki syndrome type 1. A mutation of the KDM6A gene causes the condition in 3% to 5% of cases. This is called Kabuki syndrome type 2.
Both of these genes give your cells instructions to make certain enzymes that alter proteins called histones. Histones attach to your DNA and give your chromosomes their shape. By altering the histones, the enzymes can control your gene activity. These enzymes are important for development.
A mutation in either the KMT2D gene or the KDM6A gene leads to the absence of these enzymes. When your body lacks these enzymes, gene activation can’t occur. This results in the characteristics and abnormalities of development commonly seen in the condition.
In some cases, people diagnosed with Kabuki syndrome don’t have a mutation in either of these genes. The cause of the disease isn’t known in these individuals.
When a mutation in the KMT2D gene causes the condition, it’s inherited in an autosomal dominant pattern. This means one copy of the mutated gene is enough to cause the disorder.
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When a mutation in the KDM6A gene causes the condition, it’s inherited in an X-linked dominant pattern. The KDM6A gene is located on the X chromosome. The X chromosome is one of the two sex chromosomes. In people with two X chromosomes, a mutation in one of the two copies of the gene is enough to cause the disorder. In people with only one X chromosome, a mutation in the only copy of the gene causes the disorder.
Most cases of Kabuki syndrome result from a new mutation (de novo) in one of these genes. They happen for the first time in people with no biological family history of the disorder. However, there have been a few cases of a person inheriting the mutation from one affected parent.
Your child’s healthcare provider will obtain a detailed history and perform a physical examination. They’ll look for specific signs and symptoms of the condition. They’ll look for distinctive facial characteristics, musculoskeletal abnormalities and neurological disabilities. They’ll also ask about your child’s biological family history.
To confirm a diagnosis, your child’s provider will request a genetic test. To perform the test, they’ll obtain a small sample of your child’s blood to look for genetic changes in the genes that cause Kabuki syndrome.
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Some people with Kabuki syndrome don’t have a genetic mutation in either gene. Your child’s provider may request other blood tests or chromosomal studies to rule out other conditions.
There’s no cure for Kabuki syndrome. Treatment for the condition focuses on alleviating your child’s specific symptoms. It can also help reduce the risk of complications. Treatment options may include:
You can’t prevent Kabuki syndrome because it’s a genetic condition. The genetic mutation that causes this condition most often happens randomly. There’s no biological family history of the condition, which makes it difficult to predict.
The outlook for Kabuki syndrome depends on the severity of your child’s condition. The disease can affect many different parts of your child’s body, but it won’t necessarily affect all of them. Treatment for your child’s specific symptoms can help them live a normal life. You should ask your child’s healthcare provider about their specific life expectancy.
There are adults with the disease that appear to have a normal lifespan. But since the condition is so rare, there isn’t a lot of research on the life expectancy of Kabuki syndrome. One very small study found that adults with Kabuki syndrome could manage day-to-day life and hold part-time jobs. But they still needed supportive care.
If your child has Kabuki syndrome, take some time to learn everything you can about the condition. Work with your child’s healthcare provider to find out what you can do to ensure your child receives the best possible care. You may want to join a support group in your community for families of children with rare diseases.
A note from Cleveland Clinic
It’s scary to learn your baby has a genetic condition. Talk to your child’s healthcare provider to learn more about their specific case. The symptoms, treatment and outlook for the disease vary widely. Your child’s provider can help you navigate your child’s condition. Support groups for families affected by rare genetic conditions can also be a helpful resource. They can help answer your questions and provide hope for your child’s condition.
Last reviewed on 09/01/2022.
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