title: The Team-Based Approach to Undiagnosed and Rare Diseases.
abstract: Patients with undiagnosed or rare diseases often remain without a diagnosis for many years. Many are misdiagnosed or treated symptomatically without having an identified underlying disease process. Health care providers in general practice and subspecialists are equipped to diagnose diseases commonly seen. Most practitioners are unlikely to be familiar with uncommon manifestations of a common disorder and have little or no experience with rare diseases. Multidisciplinary teams are effective in reviewing patients with undiagnosed and rare diseases and in developing a new diagnostic strategy for appropriate evaluation. A medical librarian and an access coordinating navigator are essential members of the team.
authors.affiliation: Department of Pediatrics, Medical College of Wisconsin, Children's Hospital of Wisconsin, 999 North 92nd Street, Suite C450, Milwaukee, WI 53226, USA. Electronic address: rkliegma@mcw.edu.
authors.forename: Robert M
authors.initials: RM
authors.lastname: Kliegman
authors.affiliation: Department of Pediatrics, Medical College of Wisconsin, Children's Hospital of Wisconsin, 999 North 92nd Street, Suite C450, Milwaukee, WI 53226, USA.
authors.forename: Barbara E
authors.initials: BE
authors.lastname: Ruggeri
authors.affiliation: Department of Pediatrics, Medical College of Wisconsin, Children's Hospital of Wisconsin, 999 North 92nd Street, Suite C450, Milwaukee, WI 53226, USA.
authors.forename: Molly Marquardt
authors.initials: MM
authors.lastname: Smith
mesh_terms: D002648:Child; D003937:Diagnosis, Differential; D003951:Diagnostic Errors; D006801:Humans; D016245:Librarians; D010348:Patient Care Team; D062526:Patient Navigation; D035583:Rare Diseases / Q000175:diagnosis*
keywords: Multidisciplinary; Team approach; Undiagnosed or rare diseases