Kabuki syndrome

Last revised by Bálint Botz on 20 Jun 2022

Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare polydysplasia that is thought to be more common in Japan.

The estimated incidence is 1:32.000 in Japan. It is sporadically seen elsewhere in the world. The reason for the disparity in incidence is controversial.

  • characteristic facies
    • long palpebral fissures
    • eversion of the lower eyelid
    • arched eyebrows
    • the sparseness of the lateral half of the eyebrows
    • hypertelorism
    • epicanthal folds
    • protruding ears
    • missing and widely-spaced teeth
    • "trapezoid philtrum"
  • hypotonia
  • feeding problems
  • intellectual disability (most slight or moderate)
  • growth retardation
  • prominent finger pads and abnormal dermatoglyphic patterns
  • seizures (32%)
  • immune system dysfunction

Other anomalies have been associated with the syndrome:

In the majority of the patients with Kabuki syndrome, a genetic mutation of MLL2 is identified 1. Other gene mutations causing Kabuki syndrome are reported in the literature including KMT2D inherited in the autosomal dominant matter and KDM6A mutation which displayed X-linked dominant inheritance 2.

Variable, depending on the degree of neuromuscular dysfunction and organ dysplasia.

"Kabuki" refers to a type of Japanese drama in which the players appear in stylized makeup. Kabuki syndrome was first reported in 1981 by Niikawa and Kuroki in a total of ten unrelated Japanese children with a similar presentation of multiple congenital anomalies and neurologic abnormalities. 

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