Health supervision for children with neurofibromatosis type 1

COUNCIL ON GENETICS, AMERICAN COLLEGE OF MEDICAL GENETICS AND GENOMICS

Research output: Contribution to journalReview article

6 Scopus citations

Abstract

Neurofibromatosis type 1 (NF1) is a multisystem disorder that primarily involves the skin and peripheral nervous system. Its population prevalence is approximately 1 in 3000. The condition is usually recognized in early childhood, when pigmentary manifestations emerge. Although NF1 is associated with marked clinical variability, most children affected follow patterns of growth and development within the normal range. Some features of NF1 can be present at birth, but most manifestations emerge with age, necessitating periodic monitoring to address ongoing health and developmental needs and minimize the risk of serious medical complications. In this report, we provide a review of the clinical criteria needed to establish a diagnosis, the inheritance pattern of NF1, its major clinical and developmental manifestations, and guidelines for monitoring and providing intervention to maximize the health and quality of life of a child affected.

Original languageEnglish (US)
Article numberY
JournalPediatrics
Volume143
Issue number5
DOIs
StatePublished - May 1 2019

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ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

COUNCIL ON GENETICS, AMERICAN COLLEGE OF MEDICAL GENETICS AND GENOMICS (2019). Health supervision for children with neurofibromatosis type 1. Pediatrics, 143(5), [Y]. https://doi.org/10.1542/peds.2019-0660