Kabuki Syndrome

Abstract

In 1981, Niikawa and Kuroki independently described a previously unrecognized mental retardation-malformation syndrome, characterized by a unique combination of craniofacial anomalies, congenital heart defects, skeletal anomalies, persistent fetal fingertip pads, dermatoglyphic abnormalities, mental retardation, and short stature. Because the peculiar facial appearance resembles the makeup of Kabuki actors in a traditional Japanese theater, the Niikawa-Kuroki syndrome is also known as Kabuki or Kabuki makeup syndrome. The prevalence of the syndrome is estimated to be 1 in 32,000 live births in Japan. The syndrome is increasingly recognized in other parts of the world.