Orthopaedic Manifestations of Neurofibromatosis Type I

Abstract

Neurofibromatosis type 1 (NF1) is a congenital disease which is caused by mutations in the NF1 gene on chromosome 17, resulting in an altered function of the neurofibromin protein. Owing to the ubiquitous expression of this protein, this syndrome is associated with pathology in many organ systems of the body, especially the central and peripheral nervous, musculoskeletal, and integumentary systems. This review outlines the common sequelae related to a diagnosis of NF1 and the common treatment approach to each.