Kabuki Syndrome

Kabuki syndrome is a rare genetic condition that can affect many different parts of your child’s body. Most children will develop distinctive facial characteristics, minor skeletal abnormalities, intellectual disability and growth problems after birth. Facial features may include a long opening between their eyelids, arched or broad eyebrows, a flat tip of their nose or large, cupped ears. But the specific features and the severity of your child’s condition may vary.

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. You may also see it referred to as:

• Kabuki disease
• KMS
• Niikawa-Kuroki syndrome

Symptoms of Kabuki syndrome

Although Kabuki syndrome 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 signs and symptoms your child develops and their severity may vary.

Kabuki syndrome can affect a wide variety of your child’s organs and body systems. Common Kabuki syndrome characteristics include:

• Distinctive facial features. These may include arched, broad eyebrows with less hair at the ends, abnormally long openings between your child’s eyelids (palpebral fissures), a flat tip of their nose and large, cupped ears.
• Skeletal abnormalities. These may include abnormalities of the bones of their spine, a bent fifth (pinky) finger (clinodactyly), and short fingers and toes (brachydactyly).
• Neurological features. These may include mild to moderate intellectual disability, seizures, speech delays and weak muscle tone (hypotonia).
• Growth and gastrointestinal issues. Height and weight are typically normal at birth. There may be some difficulty with growth, often by about 12 months. Other symptoms may include small head size, feeding or swallowing issues, and obesity in their teen and adult years.

Kabuki syndrome can affect multiple other organs and body systems. Other signs of the condition may include:

• Congenital heart defects
• Gastrointestinal issues
• Problems with kidneys and reproductive organs
• Cleft lip and/or palate
• Crossed eyes or drooping eyelids
• Widely spaced teeth
• Increased risk of infections or development of autoimmune disorders
• Hearing loss
• Precocious (early) puberty

Kabuki syndrome causes

A genetic change, or variant, in one of two genes causes Kabuki syndrome. A variant in the KMT2D gene (formerly known as MLL2) is responsible for about 75% of all cases. This is sometimes called Kabuki syndrome type 1. A variant in 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 variation 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 Kabuki syndrome.

In some cases, people diagnosed with Kabuki syndrome don’t have a variation in either of these genes. Experts don’t know the cause of the disease in these cases.

How doctors diagnose Kabuki syndrome

Your child’s healthcare provider will ask you about your child’s medical history and perform a physical examination. They’ll look for specific signs and symptoms of Kabuki syndrome, including distinctive facial characteristics, musculoskeletal abnormalities and neurological disabilities. They’ll also ask about your child’s biological family history.

Tests that are used to diagnose Kabuki syndrome

To confirm a diagnosis, your child’s healthcare provider will request genetic testing. To perform this testing, they’ll obtain a small sample of your child’s blood to look for genetic changes in the genes that cause Kabuki syndrome.

Some people with Kabuki syndrome don’t have a genetic variation in either gene. Your child’s provider may request other blood tests or chromosomal studies to rule out other conditions.

How is Kabuki syndrome treated?

There’s no cure for Kabuki syndrome. Treatment for the condition focuses on relieving your child’s specific symptoms and reducing the risk of complications. Treatment options may include, but aren’t limited to:

• Early interventions. Enrolling your child in supportive services and specialized education can help improve their cognitive development.
• Sensory integration therapy. This type of therapy exposes your child to sensory activities to help them regulate their responses to stimuli.
• Various other therapies. Physical therapy can help strengthen your child’s muscles. Occupational therapy helps improve their fine motor skills. Speech therapy enhances their speech and language capabilities.
• Thickened feeds and/or placement of a gastronomy tube. If your child has feeding difficulties, their provider may recommend one of these options.
• Supplemental growth hormone therapy. Your child may respond to growth hormone to treat growth hormone deficiency and short stature.
• Hearing aids or pressure-equalizing tubes. Assisted medical devices like these can help improve hearing loss.
• Medication. Certain medications can help manage seizures, gastrointestinal reflux, ADHD and other symptoms.
• Surgery. Surgery is an option to treat scoliosis, heart defects, cleft lips and palates, and other surgical needs.

Your child’s exact treatment will depend on their affected body parts and symptoms. They may work with many specialists, including a:

• Cardiologist
• Dentist
• Endocrinologist
• Gastroenterologist
• Immunologist
• Neurologist
• Ophthalmologist
• Urologist

Clinical trials and other research are ongoing to find a treatment that addresses the root cause of Kabuki syndrome.

How do I take care of my child?

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.

What is the life expectancy for someone with Kabuki syndrome?

The outlook (prognosis) 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 and prevention of complications will play a key role in improving your child’s prognosis.

There are adults with the disease who appear to have a normal lifespan. They can manage day-to-day life and hold part-time jobs. But they still need supportive care. Since the condition is so rare, there isn’t a lot of research on the life expectancy of Kabuki syndrome. You should ask your child’s healthcare provider about their specific life expectancy.