Kabuki syndrome: an uncommon genetic disorder that affects many parts of the body. The name comes from characteristic facial features of affected individuals that resemble those of the stage makeup used in Japanese Kabuki theater. Signs and symptoms include long eyelashes, long openings of the eyelids (long palpebral fissures), arched eyebrows, everted (turned out) outside edges of the lower eyelids, large, protruding earlobes, and a flat, broadened tip of the nose. People with Kabuki syndrome typically have some degree of developmental delay and intellectual disability. Other characteristics and birth defects that may occur are microcephaly (small head size), weak muscle tone, seizures, eye movement problems, short stature, scoliosis, cleft palate, dental problems, and others.
Kabuki syndrome occurs in about 1 out of ever 32,000 newborn infants. Kabuki syndrome is caused by mutations in the KMT2D gene (also known as MLL2) or the KDM6A gene. Most cases occur as a result of a new mutation and are not inherited from a parent.
Also known as Kabuki make-up syndrome, Kabuki makeup syndrome, KMS, or Niikawa-Kuroki syndrome.
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