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
- epicanthal folds
- protruding ears
- missing and widely-spaced teeth
- "trapezoid philtrum"
- 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:
- congenital cardiac anomalies
- horseshoe kidney
- precocious puberty
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.
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