Dental agenesis: From molecular diagnosis to multidisciplinary management

Dental agenesis is the most common dental developmental anomaly. Its clinical presentation is highly heterogeneous, ranging from the isolated absence of one or more teeth to complex syndromic forms associated with ectodermal or craniofacial abnormalities. Etiological diagnosis, particularly genetic diagnosis, is now a key factor in understanding these anomalies and determining treatment.

The diagnostic process is based on an integrated approach combining a detailed medical history, clinical and radiological examination, detailed analysis of the oral-dental phenotype, and referral for genetic testing. Data from next-generation sequencing (NGS) enable the identification of the genetic variants involved. This approach is implemented within specialized networks, in particular the O-Rares Reference Center for Rare Oral and Dental Diseases, a member of the TeteCou network, and European Reference Networks (ERN Cranio).

The integration of clinical, radiological, and molecular data improves diagnostic accuracy and distinguishes isolated forms from syndromic forms of dental agenesis. Genetic analyses thus contribute to identifying etiological mechanisms and better characterizing phenotypes. Clinical cases from expert centers illustrate the contribution of genetic sequencing to understanding anomalies and developing treatment plans.

The management of dental agenesis requires close collaboration between different specialties: orthodontists, general and specialist dentists, maxillofacial surgeons, pediatricians, geneticists, biologists, radiologists, and psychologists, among others. This multidisciplinary approach allows for the integration of diagnostic, therapeutic, and psychosocial dimensions. Molecular diagnosis also provides important information for prevention, genetic counseling, and follow-up of patients and their families.

Advances in molecular genetics techniques and the organization of referral networks have greatly improved the diagnosis and management of dental agenesis. The multidisciplinary approach, combined with high-throughput sequencing tools, is now an essential lever for refining diagnosis, optimizing therapeutic strategy, and improving patient care.