Overview

A Brief Glance at Kabuki

Kabuki syndrome is a rare genetic syndrome. Current statistics indicate somewhere between 1 and 10,000 and 1 in 32,000 people have Kabuki syndrome. ‘Genetic’ means the individual is born with a condition and the cause of that condition resides in his or her genetic makeup. Genetic disorders can be passed down from one generation to the next (like Muscular Dystrophy) or could be a spontaneous genetic mutation caused by an error in DNAi replication. Genetic disorders like Down syndrome can occur with abnormalities at the chromosomal level, whereas other syndromes, like Kabuki syndrome, reside at the specific gene level.

History

KurokiNiikawaIn 1968 Dr. Yoshikazu Kuroki and colleagues examined a boy in Fukuoka, in the southern part of Japan, with a unique set of malformations that did not fit into known syndromes.  Ten years later another child with similar characteristics was examined in Kanagawa, followed with three others in the ensuing two years. At the same time, in 1967 Dr. Norio Niikawa and colleagues discovered a female infant with an unusual set of characteristics that, again, did not fit into known syndromes. They found four other individuals from Hokkaido, an island north of Japan. In 1981 the combined findings of these individuals were presented as a new malformation syndrome. The name "Kabuki make-up" was selected because of the facial resemblance to the makeup of actors in Kabuki, traditional Japanese theatre. The arched eyebrows, thick eyelashes, eversioni of the laterali lower lid, and long palpebral fissuresi all contributed to this resemblance, especially in children of Asian descent. It has also been referred to as Niikawa-Kuroki syndrome. It is now more commonly known as Kabuki Syndrome.

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