National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Kabuki Syndrome is not the name you expected.
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. To date, mutation in one of two genes leads to Kabuki syndrome. The first gene is KMT2D (formerly MLL2) and the second gene, which accounts for fewer cases of Kabuki syndrome, is KDM6A. Clinical genetic testing is available for both genes.
Kabuki syndrome was first reported in the medical literature in 1981 by Japanese physicians. The disorder was originally called Kabuki-makeup syndrome because the facial features of many affected children resembled the makeup used by actors in kabuki, a form of Japanese theater. The term "makeup" has since been dropped and the preferred term for the disorder is Kabuki syndrome.
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: email@example.com
- 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: firstname.lastname@example.org
- Website: http://www.hearingloss.org
Kabuki Syndrome Network
- 8060 Struthers Crescent
- Saskatchewan, S4Y 1J3
- Tel: 3065438715
- Email: email@example.com
- Website: http://www.kabukisyndrome.com
March of Dimes
- 1275 Mamaroneck Avenue
- White Plains, NY 10605
- Tel: (914)997-4488
- Fax: (914)997-4763
- Email: AskUs@marchofdimes.org or firstname.lastname@example.org
- Website: http://www.marchofdimes.org and nacersano.org
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: email@example.com
- Website: http://www.sakks.org
- 1825 K Street NW, Suite 1200
- Washington, DC 20006
- Tel: (202)534-3700
- Fax: (202)534-3731
- Tel: (800)433-5255
- Email: firstname.lastname@example.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). For a full-text version of this report, 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.
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.
Last Updated: 6/22/2016
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