Orthodontist’s role in Axenfeld-Rieger Syndrome: Early diagnosis and multidisciplinary approach.

AIM The aim of this study is to describe the clinical characteristics, inheritance patterns, pathogenesis, diagnostic criteria and therapeutic management of Axenfeld-Rieger Syndrome (ARS), a rare genetic disorder affecting ocular, dental, craniofacial, and systemic structures. The focus is on the pivotal role of the orthodontist in the early recognition of clinical signs, contributing to the prevention of severe ocular complications and improving overall patient outcomes. MATERIALS E METHODS Thirteen patients affected by ARS, aged between 5 and 21 years (4 females, 9 males), underwent multidisciplinary evaluation and treatment. Common oral manifestations included oligodontia involving both deciduous and permanent dentitions (most frequently maxillary incisors and canines), anodontia, hypodontia, microdontia, enamel hypoplasia, conical-shaped teeth, delayed eruption, taurodontism, shortened roots, and hyperplastic labial frena. Craniofacial features frequently observed were maxillary hypoplasia, retrusive upper lip, prominent lower lip, hypertelorism, telecanthus, broad flat nasal bridge, and short stature, often associated with redundant periumbilical skin. Ocular findings included bilateral anterior segment dysgenesis, with a high incidence of secondary glaucoma, typically resistant to therapy and leading to progressive optic nerve damage. Each patient was managed through a multidisciplinary collaboration among orthodontists, ophthalmologists, geneticists, and maxillofacial surgeons, with early referrals when ocular involvement was suspected. RESULTS AND CONCLUSIONS Early diagnosis of ARS was achieved in five patients aged between 5 and 9 years, through orthodontic examination identifying characteristic dental and craniofacial anomalies. Immediate referral to ophthalmology enabled timely management and prevention of irreversible visual loss. The orthodontist plays a crucial role in the early identification of this congenital disorder, as dental and skeletal findings often represent the first diagnostic clues. Effective management of ARS requires a multidisciplinary and preventive approach, integrating dental, ophthalmologic, and genetic expertise to ensure functional, aesthetic, and systemic stability and to preserve patients' visual and craniofacial health.