Kabuki syndrome

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

Estimated incidence of 1:32,000 in Japan. Sporadically seen elsewhere in the world. The reason for the disparity in incidence is controversial.

The cause for the syndrome is uncertain. If there is a method of inheritance, it is obscure. Most cases are isolated. Sex incidence is equal.

  • characteristic facies
    • long palpebral fissures
    • eversion of lower eyelid
    • arched eyebrows
    • sparseness of lateral half of the eyebrows
    • hypertelorism
    • epicanthal folds
    • protruding ears
    • missing and widely-spaced teeth
    • "trapezoid philtrum"
  • hypotonia
  • feeding problems
  • mental retardation (most slight or moderate)
  • growth retardation
  • prominent finger pads and abnormal dermatoglyphic patterns
  • seizures (32%)
  • immune system dysfunction
  • skeletal dysplasia (92%)
    • clinodactyly of the fifth digit of the hand
    • short digits
    • spinal deformities
    • sagittal cleft of the vertebral bodies
  • cleft palate (less common in Japanese cases)
  • nonspecific cerebral atrophy

Other anomalies have been associated with the syndrome:

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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Article Information

rID: 33240
System: Paediatrics
Section: Syndromes
Synonyms or Alternate Spellings:
  • Kabuki makeup syndrome
  • Niikawa Kuroki syndrome
  • Niikawa-Kuroki syndrome
  • Kabuki's syndrome

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