Rare Diseases Affecting the Orofacial Area in Children and Adolescents: Utilization of Noninvasive AI-Based Planning of Therapeutic Approaches

Patients with rare disease-related orofacial dysmorphic features receive more suitable long-term functional and aesthetic dental reconstruction, including implant insertions. Treatments utilizing 3D planning and implementation of AI in the process enable precise and generally noninvasive multidisciplinary therapy. This therapeutic strategy is more cost-effective and markedly improves patient adherence and, thus, the overall therapeutic outcomes. Moreover, the AI-based approach to 3D imaging processing represents a modern extension of complex therapy of rare disease-related orofacial abnormalities, which are highly heterogeneous and often patient-specific. In this regard, school-age children and adolescents could start living much fuller lives comparable to their healthy peers. The patient with the Ellis-van Creveld syndrome (EvC; MIM #225500, ORPHA:289) in the form of a case report demonstrates respective treatment strategies during their long-term therapy.