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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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

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

References

  1. Kabuki syndrome. Genetics Home Reference. March 2011; http://ghr.nlm.nih.gov/condition/kabuki-syndrome. Accessed 9/8/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Kabuki syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Kabuki syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Kabuki make up syndrome
  • KMS
  • Niikawa-Kuroki syndrome
  • NKS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.