Kabuki Syndrome Overview
Learn About Kabuki Syndrome
Kabuki syndrome is a disorder that can affect many parts of the body. It is characterized by distinctive facial features including arched eyebrows; long eyelashes; long openings of the eyelids (long palpebral fissures) with the lower lids turned out (everted) at the outside edges; a flat, broadened tip of the nose; and large protruding earlobes. The name of this disorder comes from the resemblance of its characteristic facial appearance to stage makeup used in traditional Japanese Kabuki theater.
Kabuki syndrome is caused by variants (also known as mutations) in the KMT2D gene (also known as MLL2) or the KDM6A gene.
Kabuki syndrome occurs in approximately 1 in 32,000 newborns.
When Kabuki syndrome is caused by variants in the KMT2D gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Siddharth Banka practices in Manchester, United Kingdom. Mr. Banka is rated as an Elite expert by MediFind in the treatment of Kabuki Syndrome. His top areas of expertise are Kabuki Syndrome, Increased Head Circumference, Robinow Syndrome, and Cortical Dysplasia.
Giuseppe Merla practices in Foggia, Italy. Mr. Merla is rated as an Elite expert by MediFind in the treatment of Kabuki Syndrome. His top areas of expertise are Kabuki Syndrome, Williams Syndrome, Supravalvular Aortic Stenosis, and Pulmonary Supravalvular Stenosis.
Dina Schott practices in Heerlen, Netherlands. Ms. Schott is rated as an Elite expert by MediFind in the treatment of Kabuki Syndrome. Her top areas of expertise are Kabuki Syndrome, Pediatric Growth Hormone Deficiency, Growth Hormone Deficiency (GHD), Hypopituitarism, and Hormone Replacement Therapy (HRT).
Published Date: November 01, 2022
Published By: National Institutes of Health