Genetic Aspects of Tooth Agenesis

Tooth agenesis is among the most prevalent congenital anomalies affecting human\r\ndentition, characterized by the developmental absence of one or more teeth. This condition\r\nmay be present in either syndromic or non-syndromic forms, with significant implications\r\nfor oral function, aesthetics, and craniofacial development. This narrative review aims to\r\nprovide a comprehensive overview of tooth agenesis, defining its classification, genetic\r\nunderpinnings, epidemiological aspects, phenotypic features, and therapeutic approaches.\r\nRecent advances in genetic research have identified numerous causative genes, notably\r\nEDA, MSX1, WNT10A, and PAX9, each associated with specific patterns of missing teeth\r\nand involved in isolated and/or syndromic forms. Additionally, genes such as TSPEAR,\r\nLRP6, PITX2, and GREM2 contribute to varying degrees of severity and tooth distribution,\r\noften blurring the lines between syndromic and isolated cases. The genotype-phenotype\r\ncorrelations underscore the complexity of the underlying molecular pathways involved in\r\nodontogenesis. From a therapeutic perspective, the management of tooth agenesis requires\r\na multidisciplinary approach, often involving orthodontic, prosthetic, and surgical interventions tailored to the severity of tooth loss and patient age. Early diagnosis represents\r\na crucial role in treatment planning, facilitating timely intervention during growth and\r\nenhancing long-term outcomes. In conclusion, tooth agenesis remains a complex clinical\r\ncondition with a strong genetic basis. A patient-centered and interdisciplinary strategy is\r\nessential to address both functional and psychosocial needs.