Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature

Am J Med Genet A. 2004 Aug 15;129A(1):64-8. doi: 10.1002/ajmg.a.30144.


Kabuki syndrome (KS) is a rare multiple congenital anomaly/mental retardation syndrome with an estimated frequency of 1/32,000 in Japan. Five major criteria delineate KS namely postnatal short stature, skeletal anomalies, moderate mental retardation, dermatoglyphic anomalies, and a characteristic facial dysmorphism. Here we report on a series of 20 sporadic KS patients and we focus on some rare and atypical features that we have observed: chronic and/or severe diarrhea (4/20) including celiac disease, diaphragmatic defects (3/20), pseudarthrosis of the clavicles (2/20), vitiligo (2/20), and persistent hypoglycemia (2/20). Other occasional findings were severe autoimmune thrombopenia, cerebellar vermis atrophy, and myopathic features. Interestingly, one of our KS patients presented with a clinical overlap with CHARGE syndrome (right eye microphtalmia with optic nerve coloboma, VSD, bilateral cryptorchidism, and severe deafness). Because these features are more frequent in our series than previously described, we propose to carefully investigate these manifestations during KS patient survey in an attempt to determine their real frequency and in order to improve clinical management.

Publication types

  • Review

MeSH terms

  • Abnormalities, Multiple / pathology*
  • Celiac Disease / pathology
  • Child
  • Child, Preschool
  • Diarrhea / pathology
  • Face / abnormalities*
  • Female
  • Humans
  • Infant
  • Intellectual Disability / pathology*
  • Male
  • Syndrome