Current research landscape of oral rare diseases
10.3760/cma.j.cn112144-20250607-00211
- VernacularTitle:口腔罕见病研究现状分析
- Author:
Yaling SONG
1
Author Information
1. 武汉大学口腔医（学）院 口颌系统重建与再生全国重点实验室 口腔生物医学教育部重点实验室 口腔医学湖北省重点实验室，武汉 430079
- Publication Type:Journal Article
- Keywords:
Mutation;
Oral rare disease;
Genetics;
Diagnosis;
Treatment
- From:
Chinese Journal of Stomatology
2025;60(9):943-950
- CountryChina
- Language:Chinese
-
Abstract:
Oral rare diseases are a group of disorders characterized by distinct oral and craniofacial manifestations. These conditions are featured by low prevalence, high genetic and clinical heterogeneity, and great challenges in diagnosis and treatment. They can severely impair the development and physiological functions, posing substantial risks to both physical and mental health. In recent years, rapid advancements in genetics, molecular biology, and regenerative medicine have led to notable progress in the research of oral rare diseases. This review summarizes the current research landscape in this field, focusing on causative genes and mechanisms, diagnostic technologies, therapeutic approaches, clinical research, and digital innovations. It also discusses the existing challenges, aiming to promote further research and clinical translation in the field of oral rare diseases.
