Neurofibromatosis type 1: update on a common genetic condition

Minn Med. 2009 Mar;92(3):49-52.

Abstract

Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic condition affecting the skin, peripheral nervous system, and skeletal system. Half of all cases are inherited from a parent. The disease, which often manifests in childhood, affects an estimated 1 in 3,000 people, making it likely that physicians in Minnesota will encounter a patient with NF1.This article describes the diagnostic criteria for NF1 and the use of genetic testing for diagnosis; it also includes information about resources for diagnosing and treating children with the condition.

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Cross-Sectional Studies
  • Diagnosis, Differential
  • Follow-Up Studies
  • Genetic Counseling
  • Humans
  • Infant
  • Minnesota
  • Neurofibromatosis 1 / diagnosis*
  • Neurofibromatosis 1 / epidemiology
  • Neurofibromatosis 1 / genetics
  • Neurofibromin 1 / genetics

Substances

  • Neurofibromin 1