Recording of orofacial manifestations associated to rare diseases: development of a relational database

A rare disease is any condition that affects no more than one in every 2.000 individuals in a given population. These diseases have varied causes, which, in many cases, hinders early diagnosis and results in a poor quality of life. Due to their low incidence, the information available on these conditions is limited, highlighting the need to expand knowledge regarding rare diseases. The purpose of this study was to create a relational database containing information orofacial manifestations associated to rare diseases.

Medical literature was systematically assessed to identify clinical signs and symptoms affecting the orofacial region. The findings were clustered to identify orofacial manifestations with common characteristics. In order to map the RDs and the related orofacial manifestations, the primary data source was the platform Orphanet, from which information about rare diseases, medical terminologies, and "Human Phenotype Ontology" (HPO) identifiers was retrieved. Data retrieval and wrangling were conducted in Python using the Spyder integrated development environment (IDE) within the Anaconda distribution. The relational data frame was modeled using MySQL Workbench.

In total, 258 oral manifestations were classified in 11 groups. From all rare diseases, 863 presented at least one orofacial manifestation. Bone/skeletal manifestations were the conditions mostly associated with rare diseases, followed by oral mucosal manifestations, dental manifestations, craniofacial anomalies, and neoplasic manifestation.

Within the limitations of this study, it was possible to map rare diseases presenting orofacial manifestations. Further development of the database is required to provide technical and scientific support to professionals.