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Diseases

Genetic and Rare Diseases Information Center (GARD)

Kabuki syndrome


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

Overview

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

References

  1. Lederer D, Shears D, Benoit V, Verellen-Dumoulin C, Maystadt I. A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A. Am J Med Genet A. May, 2014; 164A(5):1289-1292.
  2. Kabuki syndrome. Genetics Home Reference. October, 2013; http://ghr.nlm.nih.gov/condition/kabuki-syndrome.
  3. Margaret Adam. Kabuki syndrome. Orphanet. April, 2012; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2322.
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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

  • 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. 
    Kaubuki syndrome 1
    Kabuki syndrome 2
  • 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
  • NKS
  • Niikawa-Kuroki syndrome
  • KMS
  • Kabuki make up syndrome
  • 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.