Modafferi Clarissa, Tucci Ilaria, Bogliardi Francesco Maria, Gimondo Elena, Chiurazzi Pietro, Tabolacci Elisabetta, Grippaudo Cristina
UOC Genetica Medica, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.
Dipartimento Universitario Testa Collo ed Organi di Senso, Università Cattolica del Sacro Cuore, 00168 Rome, Italy.
Genes (Basel). 2025 May 15;16(5):582. doi: 10.3390/genes16050582.
Tooth agenesis is among the most prevalent congenital anomalies affecting human dentition, characterized by the developmental absence of one or more teeth. This condition may be present in either syndromic or non-syndromic forms, with significant implications for oral function, aesthetics, and craniofacial development. This narrative review aims to provide a comprehensive overview of tooth agenesis, defining its classification, genetic underpinnings, epidemiological aspects, phenotypic features, and therapeutic approaches. Recent advances in genetic research have identified numerous causative genes, notably , , , and , each associated with specific patterns of missing teeth and involved in isolated and/or syndromic forms. Additionally, genes such as , , , and contribute to varying degrees of severity and tooth distribution, often blurring the lines between syndromic and isolated cases. The genotype-phenotype correlations underscore the complexity of the underlying molecular pathways involved in odontogenesis. From a therapeutic perspective, the management of tooth agenesis requires a multidisciplinary approach, often involving orthodontic, prosthetic, and surgical interventions tailored to the severity of tooth loss and patient age. Early diagnosis represents a crucial role in treatment planning, facilitating timely intervention during growth and enhancing long-term outcomes. In conclusion, tooth agenesis remains a complex clinical condition with a strong genetic basis. A patient-centered and interdisciplinary strategy is essential to address both functional and psychosocial needs.
牙齿发育不全是影响人类牙列的最常见先天性异常之一，其特征是一颗或多颗牙齿在发育过程中缺失。这种情况可能以综合征或非综合征形式出现，对口腔功能、美观和颅面发育有重大影响。本叙述性综述旨在全面概述牙齿发育不全，定义其分类、遗传基础、流行病学特征、表型特征和治疗方法。基因研究的最新进展已确定了许多致病基因，特别是 、 、 和 ，每个基因都与特定的缺牙模式相关，并涉及孤立性和/或综合征形式。此外， 、 、 和 等基因在不同程度上影响严重程度和牙齿分布，常常模糊综合征和孤立病例之间的界限。基因型-表型相关性强调了牙胚发生所涉及的潜在分子途径的复杂性。从治疗角度来看，牙齿发育不全的管理需要多学科方法，通常涉及根据牙齿缺失的严重程度和患者年龄量身定制的正畸、修复和手术干预。早期诊断在治疗计划中起着关键作用，有助于在生长期间及时干预并改善长期预后。总之，牙齿发育不全仍然是一种具有强大遗传基础的复杂临床病症。以患者为中心的跨学科策略对于满足功能和心理社会需求至关重要。
