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Kabuki Syndrome

Abstract

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NORD is very grateful to Louanne Hudgins, MD, FAAP, FACMG, Professor of Pediatrics, Chief, Division of Medical Genetics, Stanford University School of Medicine; Director, Perinatal Genetics, Lucile Packard Children's Hospital, for assistance in the preparation of this report.

Synonyms of Kabuki Syndrome

  • Kabuki makeup syndrome
  • KMS
  • Niikawa-Kuroki syndrome

Disorder Subdivisions

  • No subdivisions found.

General Discussion

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. The exact cause of Kabuki syndrome was recently determined. It is on the basis of a mutation in a gene called MLL2. Clinical testing is not available at the time of this publication.

Organizations related to Kabuki Syndrome

Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder (e.g., heart disease, intellectual disability, etc.)

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

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