Rare diseases are genetic, chronic, and incurable disorders with relatively low prevalence. Thus, diagnosis and management strategies for such diseases are currently limited. This situation is exacerbated by insufficient medical sources for these diseases. The National Health and Health Committee of China recently first provided a clear definition of 121 rare diseases in the Chinese population. In this study, we summarize several dental-craniofacial manifestations associated with some rare diseases to provide a reference for dentists and oral maxillofacial surgeons aiming at fast-tracking diagnosis for the management of these rare diseases.
