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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.

Treatment

Newline Maker

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.


GARD Video Tutorial

  • Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.

    Finding Treatment Information

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.
  • The Kabuki Syndrome Guideline Development Group (UK) has developed clinical guidelines for the management of Kabuki syndrome. 
  • Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.

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 European clinical trials, research studies, and patient registries enrolling people with this condition. 
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.