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Diseases

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
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Treatment


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How might Kabuki syndrome be treated?

Because Kabuki syndrome affects many parts of the body, affected individuals may require the care of different medical specialists. Clinical Guidelines for Kabuki syndrome are available that describe the management of this syndrome.[1]
Last updated: 10/1/2010

References
  1. DYSCERNE— Kabuki Syndrome Guideline Development Group. Management of Kabuki Syndrome: A Clinical Guideline. Dyscerne. August 3, 2010; http://www.dyscerne.org/dysc/digitalAssets/0/264_Kabuki_Guidelines.pdf. Accessed 9/27/2010.


Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
  • The Kabuki Syndrome Guideline Development Group (UK) has developed clinical guidelines for the management of Kabuki syndrome. 

Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied Kabuki syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
  • Orphanet lists clinical trials, research studies, and patient registries enrolling people with this condition. Click on Orphanet to view the list.