Kabuki syndrome is a rare genetic disorder first described in 1981 by Japanese researchers, Dr. Norio Niikawa and Dr. Yoshikazu Kuroki.1,2 In 2010, researchers at the University of Washington discovered the first gene responsible for Kabuki syndrome: KMT2D, formerly known as MLL2.3 In 2012, KDM6A was confirmed as the second gene to cause Kabuki syndrome.4
Kabuki syndrome occurs in approximately 1:32,000 births and is believed to occur equally across all ethnicities and both sexes. Symptoms and their severity can vary widely between individuals. Some of the most common symptoms are included here.5, 6, 7