What is the prevalence of neurofibromatosis (Von Recklinghausen disease)?

Updated: Jan 30, 2020
  • Author: Ginard I Henry, MD; Chief Editor: Gregory Gary Caputy, MD, PhD, FICS  more...
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Also known as Von Recklinghausen disease, this is a relatively common disorder with a frequency of approximately 1 in 3000. [34] Nearly 50% of patients with neurofibromatosis have a definable autosomal dominant transmission pattern. [34] The remaining cases appear to be due to mutations. While the penetrance is 100%, the expressivity is variable.

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