Oral and craniofacial manifestations in patients with Axenfeld-Rieger syndrome

The present work focuses on the clinical features, inheritance patterns, pathogenesis, diagnosis and management of Axenfeld-Rieger Syndrome. This is a rare genetic disorder characterized by a spectrum of dental, craniofacial, ocular, and other systemic anomalies. Common manifestations include oligodontia, hypodontia, microdontia, enamel hypoplasia, delayed eruption, taurodontia, misshapen teeth, shortened roots, hyperplastic frenulum, hypertelorism, telecanthus, a broad flat nose, short stature, a characteristic redundant periumbilical skin, and a high incidence of secondary glaucoma, typically difficult to control, often leading to significant optic nerve damage. Maxillary hypoplasia with flattening of the midface, promotes a mild prognathic profile and a characteristic facies displaying an old appearance. The dental diagnostician might be able to detect this hereditary disease and prevent progressive visual loss. These genetic birth defects need a multidisciplinary approach that permits the synergism of each different discipline’s specialized expertise and skills into a comprehensive therapy, that consistently delivers optimal patients care.