Journal of Interdisciplinary Genomics

Interdisciplinary Society of Genetic & Genomic Medicine (유전의학융합회)
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KBG Syndrome: Review of the Literature

  • Jisun Park (Songdo Miso Children's Hospital) ;
  • Ji Eun Lee (Department of Pediatrics, Inha University Medical College, Inha University Hospital)
  • Received : 2023.07.07
  • Accepted : 2023.08.08
  • Published : 2023.10.31
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Abstract

KBG syndrome (KBGS) is a multisystem disorder characterized by short stature, distinctive facial features including macrodontia of upper central permanent incisors, and developmental/cognitive delay. It is caused by variants or deletion of Ankyrin Repeat Domain 11 (ANKRD11) located in chromosome 16q24.3. Since its initial report in 1975, KBG syndrome has been recognized as an exceedingly rare disorder. However, recent advancements in genetic diagnostic techniques have led to an increase in both the diagnosis rate and the number of reported cases, contributing to a rapid increase in its global prevalence. We review the clinical aspects of KBGS, including previously reported and newly reported cases, as well as the related genetic patterns discovered so far.

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Acknowledgement

This research received no specific grant from any funding agency in the public, commercial, or not-for-profit sectors.

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