Get access

Congenital corneal staphyloma as a complication of Kabuki syndrome


  • How to Cite this Article: Tanaka R, Takenouchi T, Uchida K, Sato T, Fukushima H, Yoshihashi H, Takahashi T, Tsubota K, Kosaki K. 2012. Congenital corneal staphyloma as a complication of kabuki syndrome. Am J Med Genet Part A. 158A:2000–2002.


Kabuki syndrome has long been clinically defined based mainly on its characteristic eye features. The recent discovery of MLL2 as a causative gene of Kabuki syndrome has enabled the extreme end of the phenotype to be explored. We herein report on two patients with striking visible congenital staphyloma at birth. A diagnosis of Kabuki syndrome was subsequently made in both patients based on a constellation of characteristic eye features, cardiac abnormalities and severe developmental delay, and finally by the confirmation of MLL2 mutations. In conclusion, congenital corneal staphyloma is a complication of Kabuki syndrome with MLL2 mutations. © 2012 Wiley Periodicals, Inc.

Get access to the full text of this article