Symptoms and their severity can vary widely between individuals. Some of the most common symptoms are visualized here.5, 6, 7 Kabuki syndrome was first described in 1981 by Japanese researchers, Dr. Norio Niikawa and Dr. Yoshikazu Kuroki.1,2 A list of the cited publications can be viewed here.
KSF has also summarized select tables, including recommended evaluations following diagnosis, from GeneReviews: Kabuki syndrome. They are intended to be provided to healthcare professionals for review and implementation, where appropriate. Additional diagnostic and management considerations are available at GeneReviews.