Spectrum of Craniofacial and Oral Malformations in China, a Multicenter Study

Craniofacial and oral malformations (COMs) represent an important class of human developmental disorders with profound implications on the anatomical structure, appearance, and various physiological functions. In this study, we aimed to define the spectrum of COMs and analysis its features or possible influencing factors to improve the surveillance and control of the disease.

We organized a multicenter survey of COMs from 19 hospitals in 14 provinces. The clinical data of COM cases were collected from the electronic medical records system, cleaned and aggregated for analysis.

A total of 90,895 COM cases with 76 types of diseases were identified from 34,649,545 hospital population. The four most common COMs were supernumery teeth (62.64%), cleft lip and palate (28.53%), microdontia (2.86%), and tooth agenesis (1.70%). The remaining 72 diseases were detected in 3881 cases and were considered to be rare COMs. Moreover, 84.72% of rare COMs also manifested as other malformations or dysfunctions of the bone, skin and other tissues.

COMs exhibit age and gender distribution patterns, have multiple types, and significant dental malformations. The diagnostic criteria and registration practices for COMs influence their reported prevalence and temporal trends, necessitating future improvements.