Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Kabuki syndrome


Other Names for this Disease
  • NKS
  • Niikawa-Kuroki syndrome
  • KMS
  • Kabuki make up syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

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 rare disorder that affects multiple parts of the body. It is present from birth. Specific symptoms and severity can vary. Features often include a characteristic facial appearance; skeletal abnormalities; short stature; heart defects; and intellectual disability.[1][2] Other signs and symptoms may include seizures, microcephaly, weak muscle tone (hypotonia), eye problems, cleft palate, and dental problems.[2] A variety of other health problems may also occur. Kabuki syndrome is most often caused by a mutation in the KMT2D gene, and inherited in an autosomal dominant manner. Some cases are due to a mutation in the KDM6A gene and are inherited in an X-linked dominant manner.[1] Treatment is focused on the specific signs and symptoms in each affected person.[3]
Last updated: 2/8/2016

What are the signs and symptoms of Kabuki syndrome?

Kabuki syndrome is present from birth (it is congenital). People with Kabuki syndrome have similar, characteristic facial features. These include arched eyebrows; wide eyes that often slant upwards; long and thick eyelashes; a blue tint to the whites of the eyes (blue sclerae); prominent ears; downward slanting corners of the mouth; 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.[4][3]

Most people with Kabuki syndrome have mild to moderate intellectual disability, although this varies considerably. Early speech and language delay is common and some language-related difficulties usually persist.[5]

Other medical problems may also be present. Congenital heart defects are common. Skeletal abnormalities may include a short and curved pinky finger (clinodactyly); spine abnormalities; and joint dislocations. Affected people often have weak muscle tone (hypotonia); feeding difficulties; seizures; and a small head size (microcephaly). Vision and hearing problems may also be present. Some affected children are more susceptible to infections, particularly ear infections.[3]
Last updated: 2/8/2016

What causes Kabuki syndrome?

Kabuki syndrome is a genetic condition that may be caused by a mutation in the KMT2D gene (in up to 80% of cases) or the KDM6A gene. In some people with Kabuki syndrome, the cause is unknown.

The KMT2D gene gives the body instructions to make an enzyme called lysine-specific methyltransferase 2D, which is present in many parts of the body. This enzyme modifies proteins called histones, which attach to DNA and give chromosomes their shape. By adding a molecule called a methyl group to histones (a process called methylation), the enzyme helps to control the activity of certain genes. It appears to activate certain genes that are important for development.

The KDM6A gene gives the body instructions to make an enzyme called lysine-specific demethylase 6A. This enzyme helps to remove methyl groups from certain histones. Like lysine-specific methyltransferase 2D, this enzyme also helps to control the activity of certain genes. Research suggests that the two enzymes work together.

Mutations in either of these genes result in the absence of the related enzyme, which disrupts histone methylation and impairs the activation of certain genes needed for normal development.[2]
Last updated: 2/8/2016

What is the long-term outlook for people with Kabuki syndrome?

Information about the long-term outlook (prognosis) for people with Kabuki syndrome is limited. It is thought that the prognosis for living into adulthood is good, particularly if congenital anomalies (such as congenital heart defects) and infections are properly managed in childhood.[5] Life expectancy is somewhat dependent on cardiac (heart) and immunologic complications.[3]
Last updated: 2/8/2016

References
Other Names for this Disease
  • NKS
  • Niikawa-Kuroki syndrome
  • KMS
  • Kabuki make up syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.