Skip to main content
SpringerLink
Log in

Kabuki Syndrome

  • Living reference work entry
  • First Online:
Atlas of Genetic Diagnosis and Counseling

  • 308 Accesses

Abstract

In 1981 and 1982, Niikawa (Niikawa et al. 1982) and Kuroki (Kuroki et al. 1981) independently described a previously unrecognized mental retardation-malformation syndrome, characterized by a unique combination of craniofacial anomalies, congenital heart defects, skeletal anomalies, persistent fetal fingertip pads, dermatoglyphic abnormalities, mental retardation, and short stature. Because the peculiar facial appearance resembles the makeup of Kabuki actors in a traditional Japanese theater, the Niikawa-Kuroki syndrome is also known as Kabuki or Kabuki makeup syndrome. The prevalence of the syndrome is estimated to be 1 in 32,000 live births in Japan (Niikawa et al. 1988). The syndrome is increasingly recognized in other parts of the world.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution

Institutional subscriptions

Similar content being viewed by others

References

  • Adam, M. P., & Hudgins, L. (2004). Kabuki syndrome: A review. Clinical Genetics, 67, 209–219.

    Article  Google Scholar 

  • Armstrong, L., El Moneim, A. A., Aleck, K., et al. (2005). Further delineation of Kabuki syndrome in 48 well-defined new individuals. American Journal of Medical Genetics, 132A, 265–272.

    Article  PubMed  Google Scholar 

  • Banka, S., Veeramachaneni, R., Reardon, W., et al. (2012). How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum. European Journal of Human Genetics, 20, 381–388.

    Article  CAS  PubMed  Google Scholar 

  • Banka, S., Lederer, D., Benoi, V., et al. (2015). Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2). Clinical Genetics, 87, 252–258.

    Article  CAS  PubMed  Google Scholar 

  • Bögershausen, B., & Wollnik, B. (2013). Unmasking Kabuki syndrome. Clinical Genetics, 83, 201–211.

    Article  PubMed  Google Scholar 

  • Courcet, J. B., Faivre, L., Michot, C., et al. (2013). Clinical and molecular spectrum of renal malformations in Kabuki syndrome. Journal of Pediatrics, 163, 742–746.

    Article  CAS  PubMed  Google Scholar 

  • Courtens, W., Rassart, A., Stene, J. J., et al. (2000). Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome. American Journal of Medical Genetics, 93, 244–249.

    Article  CAS  PubMed  Google Scholar 

  • Digilio, M. C., Marino, B., Toscano, A., et al. (2001). Congenital heart defects in Kabuki syndrome. American Journal of Medical Genetics, 100, 269–274.

    Article  CAS  PubMed  Google Scholar 

  • Frans, G., Meyts, I., Devriendt, K., et al. (2016). Mild humoral immunodeficiency in a patient with X-linked Kabuki syndrome. American Journal of Medical Genetics Part A, 170A, 801–803.

    Article  Google Scholar 

  • Halal, F., Gledhill, R., & Dudkiewicz, A. (1989). Autosomal dominant inheritance of the Kabuki make-up (Niikawa-Kuroki) syndrome. American Journal of Medical Genetics, 33, 376–381.

    Article  CAS  PubMed  Google Scholar 

  • Handa, Y., Maeda, K., Toida, M., et al. (1991). Kabuki make-up syndrome (Niikawa-Kuroki syndrome) with cleft lip and palate. Journal of Cranio-Maxillo-Facial Surgery, 19, 99–101.

    Article  CAS  PubMed  Google Scholar 

  • Kawame, H., Hannibal, M. C., Hudgins, L., et al. (1999). Phenotype spectrum and management issues in Kabuki syndrome. Journal of Pediatrics, 134, 480–485.

    Article  CAS  PubMed  Google Scholar 

  • Kobayashi, O., & Sakuragawa, N. (1996). Inheritance in Kabuki make-up (Niikawa-Kuroki) syndrome. American Journal of Medical Genetics, 61, 92–93.

    Article  CAS  PubMed  Google Scholar 

  • Kuniba, H., Yoshiura, K. I., Kondoh, T., et al. (2009). Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome. Journal of Human Genetics, 54, 304–309.

    Article  CAS  PubMed  Google Scholar 

  • Kuroki, Y., Katsumata, N., Eguchi, T., et al. (1987). Precocious puberty in Kabuki makeup syndrome. Journal of Pediatrics, 110, 750–752.

    Article  CAS  PubMed  Google Scholar 

  • Kuroki, Y., Suzuki, Y., Chyo, H., et al. (1981). A new malformation syndrome of long palpebral fissure, large ears, depressed nasal tip and skeletal anomalies associated with postnatal dwarfism and mental retardation. Journal of Pediatrics, 99, 570–573.

    Article  CAS  PubMed  Google Scholar 

  • Lederer, D., Grisart, B., Digilio, M. C., et al. (2012). Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. American Journal of Human Genetics, 90, 119–124.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Lin, J. L., Lee, W. I., Huang, J. L., et al. (2015). Immunologic assessment and KMT2D mutation detection in Kabuki syndrome. Clinical Genetics, 88, 255–260.

    Article  CAS  PubMed  Google Scholar 

  • Lindsley, A. W., Saal, H. M., Burrow, T. A., et al. (2015). Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome. Journal of Allergy and Clinical Immunology, 137, 179–187.

    Article  PubMed  Google Scholar 

  • Lodi, M., Chifari, R., Parazzini, C., et al. (2010). Seizures and EEG pattern in Kabuki syndrome. Brain & Development, 32(10), 829–834.

    Article  Google Scholar 

  • Makrythanasis, P., van Bon, B. W., Steehouwer, M., et al. (2013). MLL2 mutation detection in 86 patients with Kabuki syndrome: A genotype–phenotype study. Clinical Genetics, 84, 539–545.

    Article  CAS  PubMed  Google Scholar 

  • Martinez-Lage, J. F., Felipe-Murcia, M. F., Nvarro, E. G., et al. (2010). Craniosynostosis in Kabuki syndrome. Journal of Neurosurgery. Pediatrics, 6, 198–201.

    Article  PubMed  Google Scholar 

  • Matsumoto, N., & Niikawa, N. (2003). Kabuki make-up syndrome: A review. American Journal of Medical Genetics, 117C, 57–65.

    Article  PubMed  Google Scholar 

  • Micale, L., Augello, B., Maffeo, C., et al. (2014). Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients. Human Mutation, 35, 841–850.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Michot, C., Corsini, C., Sanlaville, D., et al. (2013). Finger creases lend a hand in Kabuki syndrome. European Journal of Medical Genetics, 56, 556–560.

    Article  PubMed  Google Scholar 

  • Milunsky, J. M., & Huang, J. M. (2003). Unmasking Kabuki syndrome: Chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH. Clinical Genetics, 64, 509–516.

    Article  CAS  PubMed  Google Scholar 

  • Miyake, N., Harada, N., Shimokawa, O., et al. (2004). On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS. American Journal of Medical Genetics, 128, 170–172.

    Article  Google Scholar 

  • Niikawa, N., Kuroki, Y., & Kajii, T. (1982). The dermatoglyphic pattern of the Kabuki make-up syndrome. Clinical Genetics, 21, 315–320.

    Article  CAS  PubMed  Google Scholar 

  • Niikawa, N., Kuroki, Y., Kajii, T., et al. (1988). Kabuki make-up (Niikawa-Kuroki) syndrome: A study of 62 patients. American Journal of Medical Genetics, 31, 565–589.

    Article  CAS  PubMed  Google Scholar 

  • Niikawa, N., Matsuura, N., Fukushima, Y., et al. (1981). Kabuki make-up syndrome: A syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. Journal of Pediatrics, 99, 565–569.

    Article  CAS  PubMed  Google Scholar 

  • Schrander-Stumpel, C., Meinecke, P., Wilson, G., et al. (1994). The Kabuki (Niikawa-Kuroki) syndrome: Further delineation of the phenotype in 29 non-Japanese patients. European Journal of Pediatrics, 153, 438–445.

    Article  CAS  PubMed  Google Scholar 

  • Stagi, S., Gulino, A. V., Lapi, E., et al. (2016). Epigenetic control of the immune system: a lesson from Kabuki syndrome. Immunologic Research, 64, 345–359.

    Article  CAS  PubMed  Google Scholar 

  • Tsukahara, M., Kuroki, Y., Imaizumi, K., et al. (1997). Dominant inheritance of Kabuki make-up syndrome. American Journal of Medical Genetics, 73, 19–23.

    Article  CAS  PubMed  Google Scholar 

  • Wessels, M. W., Brooks, A. S., Hoogeboom, J., et al. (2002). Kabuki syndrome: A review study of three hundred patients. Clinical Dysmorphology, 11, 95–102.

    Article  PubMed  Google Scholar 

  • Yang, P., Tan, H., Xia, Y., et al. (2016). De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review. American Journal of Medical Genetics Part A, 170A, 1613–1621.

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, Shreveport, LA, USA

    Harold Chen

  2. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

Authors
  1. Harold Chen
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Harold Chen .

Rights and permissions

Reprints and permissions

Copyright information

© 2016 Springer Science+Business Media New York

About this entry

Cite this entry

Chen, H. (2016). Kabuki Syndrome. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_138-2

Download citation

  • DOI: https://doi.org/10.1007/978-1-4614-6430-3_138-2

  • Received:

  • Accepted:

  • Published:

  • Publisher Name: Springer, New York, NY

  • Online ISBN: 978-1-4614-6430-3

  • eBook Packages: Springer Reference Biomedicine and Life SciencesReference Module Biomedical and Life Sciences

Publish with us

Policies and ethics

Search

Navigation