Rare diseases are usually genetic, chronic and incurable disorders with a relatively low incidence. Developments in the diagnosis and management of rare diseases have been relatively slow due to a lack of sufficient profit motivation and market to attract research by companies. However, due to the attention of government and society as well as economic development, rare diseases have been gradually become an increasing concern. As several dental-craniofacial manifestations are associated with rare diseases, we summarize them in this study to help dentists and oral maxillofacial surgeons provide an early diagnosis and subsequent management for patients with these rare diseases.

罕见病通常是遗传性、慢性且无法治愈的疾病，发病率相对较低。由于缺乏足够的利润动力和市场来吸引企业的研究，罕见病的诊断和管理的发展相对缓慢。然而，由于政府和社会的重视以及经济的发展，罕见病逐渐受到人们的关注。由于多种牙颌面表现与罕见疾病相关，我们在本研究中对其进行总结，以帮助牙医和口腔颌面外科医生为这些罕见疾病患者提供早期诊断和后续治疗。