What Every Internist Should Know About Rare Genetic Syndromes in Order to Prevent Needless Diagnostics Missed Diagnoses and Medical Complications: Five-Year Experience of Internal Medicine for Complex Rare Genetic Syndromes

摘要

Introduction: Patients with complex rare genetic syndromes (CRGS) have, by definition, combined medical problems affecting multiple organ systems. Intellectual disability (ID) is often part of the syndrome. During childhood, most patients with CRGS receive multidisciplinary (MD) and specialized pediatric care in tertiary centers. As improvement of medical care has improved life expectancy, more and more patients are now reaching adult age. While the complexity of the syndromes persist into adulthood, adequate multidisciplinary syndrome-specific care is rarely available for adults with CRGS. Although multiple organ systems are usually affected, internists are rarely involved. Pediatricians have expressed the urgent need for adequate, syndrome-specific, MD tertiary healthcare for adults with CRGS.