Analyze the national directory of rare diseases, define the diagnostic role of the stomatologists / 中华口腔医学杂志

ABSTRACT

A rare disease, also referred to as an orphan disease, is defined as the disease with a low prevalence or that affects a small percentage of the population. It is a well model of human disease, which can facilitate the in-depth study and understanding of related diseases. Therefore, five Chinese governmental authorities, including the National Health Commission of the People′s Republic of China, jointly issued the "First National Directory of Rare Diseases" (the First List) on May 11, 2018. The First List covers 121 rare indications. In the analysis of the directory, we found that among the 121 diseases, there are 51 (42.2%) with oral characterization. Oral manifestations mainly include craniofacial abnormalities, dentition (dental) abnormalities, oral soft tissue lesions, jaw bone lesions, salivary gland related diseases, etc., even some of them are the first, earliest and inevitable clinical manifestations of some patients with rare diseases. In order to strengthen the understanding of stomatological counterparts on the importance of the national directory of rare diseases and deeply understand the important and irreplaceable role of stomatologists in the diagnosis and treatment of rare diseases, the present review article is specifically written to introduce the oral characterization of the rare diseases listed in the catalogue, aiming at improving the diagnosis and treatment capabilities of these diseases by peers and benefiting the public.