The second edition of oral rare diseases list
10.3760/cma.j.cn112144-20250604-00203
- VernacularTitle:《口腔罕见病名录》（第二版）
- Author:
Xiaohong DUAN
1
Author Information
1. 空军军医大学口腔医学院口腔生物学教研室/口腔罕见病与遗传病门诊 口颌系统重建与再生全国重点实验室 国家口腔疾病临床医学研究中心 陕西省口腔医学重点实验室，西安 710032
- Publication Type:Journal Article
- Keywords:
Rare diseases;
Genetic diseases;
Oral;
Craniofacial
- From:
Chinese Journal of Stomatology
2025;60(9):959-970
- CountryChina
- Language:Chinese
-
Abstract:
The low prevalence and complex clinical characteristics of oral rare diseases make their diagnosis and treatment difficult in clinical practice. The publication of "The first edition of oral rare diseases list" in 2020 provides the important references for the diagnosis and treatment of such diseases. In order to further expand and improve the scope of oral rare diseases, this second version of oral rare diseases list has newly included 9 groups and 454 types of diseases with different degrees or kinds of oral craniofacial features, and provides the Chinese and English disease names and online Mendelian Inheritance in Man classification numbers,as well as short descriptions. We also revised eight items in the first edition. The whole contents have been reviewed by the committee members of the Society of Oral Genetic Diseases and Rare Diseases, Chinese Stomatological Association. The diseases on the first and second list together forms the whole system of oral rare diseases.
