What is the prevalence of Chédiak-Higashi syndrome (CHS)?

Updated: Aug 08, 2019
  • Author: Roman J Nowicki, MD, PhD; Chief Editor: Dirk M Elston, MD  more...
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Answer

Chédiak-Higashi syndrome (CHS) is rare, with fewer than 500 cases published worldwide over the last 20 years. [11, 8] In a nationwide survey in Japan, 15 patients were diagnosed during a period of 11 years (2000-2010), indicating that one or two patients with CHS were diagnosed each year. [5] The exact prevalence is difficult to determine as some individuals are reported in the literature more than once. In addition, the phenotypic variability that has more recently been appreciated suggests that many mildly affected individuals may be unrecognized or unreported.


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