Kabuki Syndrome

Kabuki syndrome (KS; also known as Kabuki make-up syndrome and Niikawa-Kuroki syndrome) is a rare inherited genetic syndrome first diagnosed in Japan in 1981 and is caused by mutations in an H3 lysine 4 methylase (KMT2D) or an X-linked histone H3 lysine 27 demethylase (KDM6A) gene. The syndrome has a heterogeneous phenotype and affects multiple organ systems. The cardinal features of S include characteristic facial features (long palpebral fissures, eversion of the lateral one-third of the lower eyelid, arched eyebrows with lateral sparseness or notching, short nasal columella, large prominent or cupped ears, and cleft lip/palate), skeletal anomalies, dermatoglyphic anomalies, mild to moderate intellectual disability, and postnatal growth restriction. There is no treatment other than symptomatic management and prevention of complications. Kabuki syndrome is largely unknown to many clinicians.