A congenital condition (OMIM:147920) that primarily affects the Japanese, which is characterised by a typical facial dysmorphia–long palpebral fissures, eversion of the lateral lower eyelids, arched eyebrows, a broad depressed nose, fancifully likened to masks worn in Kabuki theatre. Further changes include prominent ears, recurrent otitis, hearing loss–50%, a high arched or cleft palate, growth retardation–83%, skeletal defects–e.g., bradydactyly, spinal deformity including scoliosis, ± sagittally cleft vertebrae, unusual dermatoglyphic patterns,
heart defects–30%, urinary tract disorders, hypotonia, joint laxity, short stature. In terms of neuropsychological development, most have–92%–mild to moderate intellectual disability. These children are distinctive behaviourally: 87% are happy; 75% prefer routines; 50% are unusually sociable; 30% engage in only minimal interaction with others. They often have defects in fine motor skills, speech, and memory
Molecular pathology A loss-of-function mutation in KMT2D (formerly, MLL2,) which encodes Lysine (K)-Specific Methyltransferase 2D, an enzyme that plays a key role in epigenetic programming during development, has been found in more than half of cases of Kabuki syndrome.
Synonyms Kabuki make up syndrome, Kabuki mask syndrome, Niikawa-Kuroki syndrome