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.
- characteristic facies
- feeding problems
- intellectual disability (most slight or moderate)
- growth retardation
- prominent finger pads and abnormal dermatoglyphic patterns
- seizures (32%)
- immune system dysfunction
- skeletal dysplasia (92%)
- cleft palate (less common in Japanese cases)
- non-specific cerebral atrophy
Other anomalies have been associated with the syndrome:
- congenital cardiac anomalies
- horseshoe kidney
- precocious puberty
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.
Treatment and prognosis
Variable, depending on the degree of neuromuscular dysfunction and organ dysplasia.
History and etymology
"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.
- 1. Kawame H, Hannibal MC, Hudgins L et-al. Phenotypic spectrum and management issues in Kabuki syndrome. J. Pediatr. 1999;134 (4): 480-5. Pubmed citation
- 2. Schrander-Stumpel C, Meinecke P, Wilson G et-al. The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients. Eur. J. Pediatr. 1994;153 (6): 438-45. Pubmed citation
- 3. Carcione A, Piro E, Albano S et-al. Kabuki make-up (Niikawa-Kuroki) syndrome: clinical and radiological observations in two Sicilian children. Pediatr Radiol. 1992;21 (6): 428-31. Pubmed citation