Definition of Kabuki syndrome
Kabuki syndrome (previously known as Kabuki-makeup syndrome (KMS) or Niikawa–Kuroki syndrome) is a rare congenital disorder of genetic origin. It affects multiple parts of the body, with varying symptoms and severity, although the most common is the characteristic "kumadori-like" facial appearance.
Kabuki syndrome (KS) affects roughly one in 32,000 births. It was first identified and described in 1981 by two Japanese groups, led by scientists Norio Niikawa and Yoshikazu Kuroki. It is named Kabuki syndrome because of the facial resemblance of affected individuals to stage makeup used in kabuki, a Japanese traditional theatrical form.
There are two types of Kabuki syndrome. Type 1 is caused by pathogenic variants in KMT2D and Type 2 is caused by pathogenic variants in KDM6A.
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Frequently asked questions
What is Kabuki syndrome?
Kabuki syndrome (previously known as Kabuki-makeup syndrome (KMS) or Niikawa–Kuroki syndrome) is a rare congenital disorder of genetic origin.
Sources & credits
- Wikipedia: Kabuki syndrome – CC BY-SA 4.0
- Image by Kirsty Bird – CC BY-SA 4.0