Abstract:

Orofacial genetic and rare diseases, characterized by low prevalence and complex manifestations, represent a “niche yet critical”challenge in precision diagnosis and treatment within the field of dentistry. In recent years, artificial intelligence technology has been reshaping traditional medical diagnosis and treatment processes, and its involvement has provided an innovative approach to addressing these challenges. For instance, it assists in disease imaging analysis, facial feature assessment, and gene mutation screening, thereby improving the accuracy and timeliness of diagnosis. Meanwhile, it also innovates surgical navigation pathways and personalized treatment strategies. However, multiple barriers remain before such advances can be fully translated into clinical practice. This article summarizes the recent progress of research on the application of artificial intelligence to the diagnosis and treatment of oral genetic and rare diseases, discusses its advantages and challenges, and provides scientific evidence for future clinical research and practice.

Key words: artificial intelligence, deep learning, rare diseases, genetic diseases, dentofacial deformities, precision medicine