European Journal of Pediatrics

, Volume 153, Issue 6, pp 438–445

The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients

  • C. Schrander-Stumpel
  • P. Meinecke
  • G. Wilson
  • G. Gilleseen-Kaesbach
  • S. Tinschert
  • R. König
  • N. Philip
  • R. Rizzo
  • J. Schrander
  • L. Pfeiffer
  • A. Maat-Kievit
  • I. van der Burgt
  • T. van Essen
  • E. Latta
  • U. Hillig
  • A. Verloes
  • H. Journel
  • J. P. Fryns
Medical Genetics

DOI: 10.1007/BF01983409

Cite this article as:
Schrander-Stumpel, C., Meinecke, P., Wilson, G. et al. Eur J Pediatr (1994) 153: 438. doi:10.1007/BF01983409

Abstract

The Kabuki (Niikawa-Kuroki) syndrome was reported in 1981 by Niikawa et al. [19] and Kuroki et al. [15] in a total of ten unrelated Japanese children with a characteristic array of multiple congenital anomalies and mental retardation. The syndrome is characterized by a distinct face, mild to moderate mental retardation, postnatal growth retardation, dermatoglyphic and skeletal abnormalities. In Japan, the syndrome appears to have an incidence of about 1∶32 000 newborns. Outside of Japan, a growing number of patients have been recognized. Clinical data are presented on 29 Caucasian patients; the patients were diagnosed over a relatively short period of time, indicating that the incidence outside of Japan is probably not lower than in Japan. A literature review of 89 patients (60 Japanese and 29 non-Japanese) is given. In 66% of the non-Japanese patients serious neurological problems were present, most notably hypotonia and feeding problems (which were not only related to the cleft palate); this was not reported in the Japanese patients. Inheritance is not clear. Most patients are isolated, sex-ratio is equal. The syndrome can be recognized in patients with cleft (lip/)palate, with mild to moderate developmental delay and in young children with hypotonia and/or feeding problems. In counselling parents, the designation “Kabuki” syndrome seems to be more appropriate than “Kabuki make-up” syndrome.

Key words

Kabuki syndrome Niikawa-Kuroki syndromeLong palpebral fissuresFetal fingertip padsKabuki make-up syndrome

Copyright information

© Springer-Verlag 1994

Authors and Affiliations

  • C. Schrander-Stumpel
    • 1
  • P. Meinecke
    • 6
  • G. Wilson
    • 11
  • G. Gilleseen-Kaesbach
    • 7
  • S. Tinschert
    • 8
  • R. König
    • 9
  • N. Philip
    • 12
  • R. Rizzo
    • 14
  • J. Schrander
    • 2
  • L. Pfeiffer
    • 8
  • A. Maat-Kievit
    • 3
  • I. van der Burgt
    • 5
  • T. van Essen
    • 4
  • E. Latta
    • 10
  • U. Hillig
    • 10
  • A. Verloes
    • 15
  • H. Journel
    • 13
  • J. P. Fryns
    • 16
  1. 1.Department of Clinical GeneticsMaastrichtThe Netherlands
  2. 2.Department of PaediatricsUniversity Hospital MaastrichtMaastrichtThe Netherlands
  3. 3.Department of Clinical GeneticsUniversity Hospital LeidenLeidenThe Netherlands
  4. 4.Department of Clinical GeneticsUniversity Hospital GroningenGroningenThe Netherlands
  5. 5.Department of Clinical GeneticsRadboud University HospitalNijmegenThe Netherlands
  6. 6.Abteilung für Medizinische GenetikAltonaer KinderkrankenhausHamburgGermany
  7. 7.Institut für HumangenetikUniversitätsklinikumEssenGermany
  8. 8.Institut für HumangenetikHumboldt UniversitätBerlinGermany
  9. 9.Institut für HumangenetikKlinikum der Johann Goethe-UniversitätFrankfurt/MainGermany
  10. 10.Medizinisches Zentrum für HumangenetikPhilipps Universität MarburgGermany
  11. 11.Department of PaediatricsUniversity of Texas Southwestern Medical CenterDallasUSA
  12. 12.Centre de Génétique MedicalHôpital d'Enfants de la TimoneMarseilleFrance
  13. 13.Department d'Information Medicale, d'Epidemiologie et de Santé PubliqueCentre Hospitalier Prosper ChubertVannesFrance
  14. 14.Università Degli Studi di CataniaCataniaItaly
  15. 15.Centre for Human GeneticsLiègeBelgium
  16. 16.Division of Human GeneticsUniversity Hospital LeuvenLeuvenBelgium