Orthodontist’s role in the Axenfeld-Rieger Syndrome: early diagnosis and therapy

Aim: The aim is to focus on the clinical features, inheritance patterns, pathogenesis, diagnosis and management of Axenfeld-Rieger Syndrome (ARS), a rare genetic disorder characterized by a spectrum of dental, craniofacial, ocular, and others systemic anomalies. Methods: 13 Axenfeld-Rieger patients aged 5 to 21 years old, 4 female and 9 males, had undergone a multidisciplinary treatment. Common oral manifestations include oligodontia (in deciduous and permanent dentition, with maxillary incisors and canines missing), anodontia, hypodontia, microdontia, enamel hypoplasia, conical-shaped teeth, delayed eruption, taurodontia, misshapen teeth, shortened roots, hyperplastic fraena. Other clinical features are maxillary hypoplasia, receding upper lip and a prominent lower lip, hypertelorism, telecanthus, a broad flat nose, short stature, a characteristic redundant periumbilical skin, a bilateral developmental disorder of the eyes, and a high incidence of secondary glaucoma, typically difficult to control, often leading to significant optic nerve damage. Results: Early diagnosis of ARS has been done on 5 patients (aged 5 to 9 old) by orthodontists. Immediately, patients were immediately sent to oculistic department to prevent loss of sight. Conclusion: Early identification of this hereditary disease and prevention of vision loss can be aided by an orthodontist. This congenital genetic defect requires a multidisciplinary approach, synergizing specialized expertise for comprehensive and optimal patient care.