Oral features in Kabuki make-up Syndrome

Eur J Paediatr Dent. 2008 Sep;9(3):149-52.


Aim: Kabuki make-up Syndrome is so named because of the characteristic facies of the affected patient. The face is similar to a Kabuki actor's mask. The main aim of this report was to describe the oral features in Kabuki Syndrome, focusing on the tooth anomalies.

Patients and methods: Five subjects with Kabuki Syndrome, identified by the Child Neuropsychiatric Clinic of the University of Sassari, Italy, were enrolled. Their medical records were reviewed and oral and dental examinations were completed. The diagnosis was based upon the typical pattern of malformations and dysmorphic features reviewed by Matsumoto and Niikawa.

Results: All patients showed typical characteristics of the Syndrome such as a long palpebral fissure, lower palpebral eversion, arched eyebrows, short nasal septum, prominent and large ears, fingertip pads, mental retardation, and paramedian elevation of the lower lip.

Conclusion: Kabuki make-up Syndrome is of unknown origin but a genetic aetiopathogenesis has been proposed. It is extremely rare; in Japan, where it is most frequent, it affects 1:32000 newborns. The typical facies of the syndrome, combined with general medical and dental examinations, are very important for diagnosis confirmation.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple
  • Adolescent
  • Adult
  • Anodontia / pathology
  • Child
  • Dental Enamel Hypoplasia / pathology
  • Face / abnormalities*
  • Facies
  • Female
  • Humans
  • Male
  • Malocclusion / pathology
  • Retrognathia / pathology
  • Syndrome
  • Tooth Abnormalities / pathology*