Kabuki Syndrome

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report Kabuki Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.


  • Kabuki makeup syndrome
  • KMS
  • Niikawa-Kuroki syndrome

Disorder Subdivisions

  • None

General Discussion

Kabuki syndrome is a rare, multisystem disorder characterized by multiple abnormalities including distinctive facial features, growth delays, varying degrees of intellectual disability, skeletal abnormalities, and short stature. A wide variety of additional symptoms affecting multiple different organ systems can potentially occur. The specific symptoms associated with Kabuki syndrome can vary greatly from one person to another. The exact cause of Kabuki syndrome was recently determined. It is on the basis of a mutation in a gene called MLL2. Clinical testing is not available at the time of this publication.

Supporting Organizations

Congenital Heart Information Network (C.H.I.N.)

P.O. Box 3397
Margate City, NJ 08402-0397
Tel: (609)823-4507
Fax: (609)822-1574
Email: mb@tchin.org
Website: http://www.tchin.org

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
Website: http://rarediseases.info.nih.gov/GARD/

Hearing Loss Association of America

7910 Woodmont Avenue
Suite 1200
Bethesda, MD 20814
Tel: (301)657-2248
Fax: (301)913-9413
Email: info@hearingloss.org
Website: http://www.hearingloss.org

Kabuki Syndrome Network

8060 Struthers Crescent
Saskatchewan, S4Y 1J3
Tel: 3065438715
Email: margot@kabukisyndrome.com
Website: http://www.kabukisyndrome.com

March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Website: http://www.marchofdimes.com

NIH/National Institute of Neurological Disorders and Stroke

P.O. Box 5801
Bethesda, MD 20824
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
Website: http://www.ninds.nih.gov/

Supporting Aussie Kids with Kabuki Syndrome

PO Box 90
South Australia, 5097
Tel: 0422 608 858
Email: petal@sakks.org
Website: http://www.sakks.org

The Arc

1825 K Street NW, Suite 1200
Washington, DC 20006
Tel: (202)534-3700
Fax: (202)534-3731
Tel: (800)433-5255
Email: info@thearc.org
Website: http://www.thearc.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  12/15/1969
Copyright  2010 National Organization for Rare Disorders, Inc.