Get access

Kabuki syndrome: a review

Authors

  • MP Adam,

    Corresponding author
    1. Division of Medical Genetics, Stanford University, Stanford, CA, USA
      Margaret Adam, M.D., Stanford University, Pediatrics/Medical Genetics, 300 Pasteur Drive, H-315, Stanford, CA 94305-5208, USA.
      Tel.: +1 650 723 6858;
      fax: +1 650 498 4555;
      e-mail: mlp@stanford.edu
    Search for more papers by this author
  • L Hudgins

    1. Division of Medical Genetics, Stanford University, Stanford, CA, USA
    Search for more papers by this author

Margaret Adam, M.D., Stanford University, Pediatrics/Medical Genetics, 300 Pasteur Drive, H-315, Stanford, CA 94305-5208, USA.
Tel.: +1 650 723 6858;
fax: +1 650 498 4555;
e-mail: mlp@stanford.edu

Abstract

Kabuki syndrome (KS) (Kabuki make-up syndrome, Niikawa–Kuroki syndrome) is a multiple malformation/mental retardation syndrome that was described initially in Japan but is now known to occur in many other ethnic groups. It is characterized by distinctive facial features (eversion of the lower lateral eyelid, arched eyebrows with the lateral one-third dispersed or sparse, depressed nasal tip, and prominent ears), skeletal anomalies, dermatoglyphic abnormalities, short stature, and mental retardation. A number of other manifestations involving other organ systems can aid in the diagnosis and management of KS. This review will focus on the diagnostic criteria, the common and rare features of KS by organ system, and the possible etiology of this interesting condition.

Get access to the full text of this article

Ancillary