Kabuki Syndrome

Abstract

Kabuki syndrome (Kabuki makeup syndrome, Niikawa‐Kuroki syndrome) is a multiple‐malformation syndrome characterized by distinctive facial features (long palpebral fissures, eversion of the lower lateral eyelid, arched eyebrows with sparse or dispersed lateral one third, depressed nasal tip, and large, prominent ears), mental retardation, and postnatal growth deficiency. The etiology is unknown, however, it is suspected to be an autosomal dominant disorder. Malformations involving almost every system have been described. The various manifestations of this disorder are described and suggested evaluations and treatment are reviewed.