Medical Definition of Kabuki syndrome

  • Medical Author:
    Melissa Conrad Stöppler, MD

    Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.

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.

Reviewed on 9/7/2018

REFERENCE: US National Library of Medicine. Genetics Home Reference. "Kabuki syndrome." Updated: Mar 14, 2017.

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