Kabuki syndrome (Niikawa-Kuroki syndrome) is a rare polydysplasia that is thought to be more common in Japan.
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Epidemiology
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.
Clinical presentation
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characteristic facies
long palpebral fissures
eversion of the lower eyelid
arched eyebrows
the sparseness of the lateral half of the eyebrows
epicanthal folds
protruding ears
missing and widely-spaced teeth
"trapezoid philtrum"
hypotonia
feeding problems
intellectual disability (most slight or moderate)
growth restriction
prominent finger pads and abnormal dermatoglyphic patterns
seizures (32%)
immune system dysfunction
Pathology
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 an autosomal dominant manner and KDM6A inherited in an X-linked dominant manner 2.
Radiographic features
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skeletal dysplasia (92%)
clinodactyly of the fifth digit of the hand
spinal deformities
sagittal cleft of the vertebral bodies
cleft palate (less common in Japanese cases)
non-specific cerebral atrophy
Other anomalies have been associated with the syndrome:
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congenital cardiac anomalies
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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