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Genetic and Rare Diseases Information Center (GARD)

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Kabuki syndrome

Other Names for this Disease
  • Kabuki make up syndrome
  • KMS
  • Niikawa-Kuroki syndrome
  • NKS
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Your Question

My child was diagnosed with Kabuki Syndrome. What is the life expectancy of this condition? How will the recent discovery of the gene related to Kabuki syndrome affect her?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Kabuki syndrome?

Kabuki syndrome is a condition, present at birth, which affects many parts of the body. Affected individuals have facial features that resemble the make-up worn by actors of Kabuki, a Japanese theatrical form. Facial characteristics of Kabuki syndrome may include long eye openings that slant upwards, arched eyebrows, prominent ears, and corners of the mouth that turn downwards. This syndrome typically causes mild to moderate intellectual disability as well as problems involving the heart, skeleton, teeth, and immune system. Kabuki syndrome is inherited in an autosomal dominant pattern. Most causes are caused by mutations in the MLL2 gene.[1]
Last updated: 9/8/2011

What are the signs and symptoms of Kabuki syndrome?

Individuals with Kabuki syndrome have similar facial features, which include arched eyebrows, long eye openings that often slant upwards, prominent ears, downward slanting corners of the mouth, long and thick eyelashes, a blue tint to the whites of the eyes (blue sclerae), and a depressed tip of the nose. People with Kabuki syndrome may also have cleft lip; a highly arched or cleft palate; and widely spaced, irregular teeth. [2]

Most individuals with Kabuki syndrome have mild to moderate intellectual disability although the degree of learning disability varies considerably. Early speech and language delay is common and some language-related difficulties usually persist. [3]

Individuals with Kabuki syndrome can also have a wide range of medical problems. About 50 percent of children with this syndrome are born with heart defects. [4] Skeletal abnormalities may include a short and curved pinky finger (clinodactyly), scoliosis, and dislocation of the hip or knee cap. Affected individuals frequently have low muscle tone (hypotonia), feeding difficulties, seizures, and small head size (microcephaly).  They may also have vision problems such as nystagmus and crossed-eyes (strabismus).  Over 50% of individuals with Kabuki experience hearing loss. [4]  Some children are susceptible to infections when they are young, especially ear infections.  A few affected individuals develop obesity in adolescence.

Additional features that have been reported in children with Kabuki syndrome include fingertip pads, slow growth, kidney or urinary tract abnormalities, widely spaced nipples, premature breast development, early puberty, undescended testes, and hernias in the groin (inguinal) or around the belly button (umbilical), generalized hairiness (hirsutism), and abnormal skin pigmentation. [4]
Last updated: 10/14/2010

What causes Kabuki syndrome?

Researchers have recently identified changes (mutations) in a gene called MLL2 in the majority of cases of Kabuki syndrome. This gene provides instructions for making a protein that is important for regulating chromatin, which works to keep DNA tightly packed into the nuclei of our cells. Mutations in the MLL2 gene result in the production of a protein that is unable to properly perform its job within the body. In some people with Kabuki syndrome, mutations have not been found in the MLL2 gene. In these cases, the cause of Kabuki syndrome remains unknown.[5][6]
Last updated: 10/1/2010

Is genetic testing available for Kabuki syndrome?

Yes, clinical genetic testing for Kabuki syndrome is currently available. GeneTests lists the names of laboratories that are performing genetic testing for Kabuki syndrome.

Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. In the Services section, we provide a list of resources that can assist you in locating a genetics professional near you.
Last updated: 9/8/2011

How might Kabuki syndrome be treated?

Because Kabuki syndrome affects many parts of the body, affected individuals may require the care of different medical specialists. Clinical Guidelines for Kabuki syndrome are available that describe the management of this syndrome.[7]
Last updated: 10/1/2010

What is the life expectancy for individuals with Kabuki syndrome?

There is relatively little information about long term outcome for individuals with Kabuki syndrome.  Kabuki syndrome may not cause a shortened lifespan if potential medical complications, such as heart and kidney defects, are responsive to treatment. [3]
Last updated: 10/1/2010