Kabuki syndrome

Definition:

Kabuki syndrome, or Kabuki make-up syndrome, is a multiple malformation/mental retardation syndrome that is inherited in an autosomal dominant manner. Patients often have long palpebral fissures with eversion of the lateral one-third of the lower eyelids and arched and broad eyebrows that resemble the make-up of actors in Kabuki, the traditional Japanese play. Other features include postnatal growth delay during the first year of life, persistent fetal fingertip pads, congenital heart defects, and skeletal anomalies such as the absence of digital triradius c and/or d.

References:

[1]. M P Adam, et al. Kabuki syndrome: a review. Clin Genet. 2005 Mar;67(3):209-19. [Content Brief]

[2]. Marja W Wessels, et al. Kabuki syndrome: a review study of three hundred patients. Clin Dysmorphol. 2002 Apr;11(2):95-102. [Content Brief]

[3]. Peter M Van Laarhoven, et al. Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development. Hum Mol Genet. 2015 Aug 1;24(15):4443-53. [Content Brief]

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