Gowrie Shelleen, Omosebi Opeyemi, Veith Philip, Agarwal Neil, Shah Sameer, Montalbano Michael, Tubbs R Shane, Loukas Marios
Anatomical Sciences, St. George's University, School of Medicine, St. George's, GRD.
Medicine, Danbury Hospital, Danbury, USA.
Cureus. 2025 Apr 9;17(4):e81943. doi: 10.7759/cureus.81943. eCollection 2025 Apr.
Hand syndactyly is a congenital malformation resulting from the failure of differentiation between two or more digits, resulting in a subsequent fusion. This systematic review aims to comprehensively analyze the genetic and embryological mechanisms underlying both syndromic and non-syndromic variants of hand syndactyly, as well as evaluate the effectiveness of surgical interventions utilized in the correction of this congenital anomaly to improve patient outcomes and reduce complications. The review follows Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines and systematically searched PubMed, Google Scholar, ScienceDirect, and Cochrane databases without time restrictions up to August 2024. Studies included in this review examined (1) genetic and embryological mechanisms of syndactyly; (2) classification systems; and (3) surgical treatment outcomes. Reference lists of identified articles were manually screened for additional studies. Exclusion criteria included (1) conference papers, letters to the editor, reviews, and video articles; (2) studies on congenital hand malformations other than syndactyly; (3) studies involving animal subjects; (4) studies with updated reviews from the same authors; (5) preliminary studies; and (6) studies with duplicate information. Out of 3015 initial records and 212 additional sources, 88 studies met the inclusion criteria, providing insights into the genetics, embryology, and surgical management of hand syndactyly. Risk of bias was assessed using the traffic light plot within the Robvis risk-of-bias framework. While many studies demonstrated methodological rigor based on the key domains assessed, limitations included recall bias in retrospective cohort studies, inconsistent stratification of surgical outcomes, and inadequate control for confounding factors. The findings emphasize the importance of early diagnosis and intervention, particularly surgical correction between 18 and 24 months, to improve functional and aesthetic outcomes. Various surgical techniques have been explored, each with distinct benefits depending on the type and extent of malformation. Patient-reported outcomes show higher satisfaction with upper extremity function and reduced pain interference, highlighting the value of personalized treatment approaches. Despite expanded classification systems and improved surgical techniques, the multifactorial etiology of hand syndactyly requires further investigation to refine diagnostic strategies and enhance treatment protocols, ultimately improving patient care.
手指并指是一种先天性畸形，是由于两个或多个手指之间分化失败，继而导致融合。本系统评价旨在全面分析综合征型和非综合征型手指并指的遗传和胚胎学机制，以及评估用于矫正这种先天性畸形的手术干预措施的有效性，以改善患者预后并减少并发症。本评价遵循系统评价和Meta分析的首选报告项目（PRISMA）指南，并在没有时间限制的情况下系统检索了PubMed、谷歌学术、ScienceDirect和Cochrane数据库，检索截至2024年8月。本评价纳入的研究考察了：（1）并指的遗传和胚胎学机制；（2）分类系统；以及（3）手术治疗结果。对已识别文章的参考文献列表进行人工筛选以寻找其他研究。排除标准包括：（1）会议论文、给编辑的信、综述和视频文章；（2）关于除并指以外的先天性手部畸形的研究；（3）涉及动物受试者的研究；（4）同一作者的更新综述研究；（5）初步研究；以及（6）有重复信息的研究。在3015条初始记录和212个其他来源中，88项研究符合纳入标准，为手指并指的遗传学、胚胎学和手术管理提供了见解。使用Robvis偏倚风险框架内的交通灯图评估偏倚风险。虽然许多研究基于所评估的关键领域显示出方法学的严谨性，但局限性包括回顾性队列研究中的回忆偏倚、手术结果分层不一致以及对混杂因素控制不足。研究结果强调了早期诊断和干预的重要性，特别是在18至24个月之间进行手术矫正，以改善功能和美学效果。已经探索了各种手术技术，每种技术根据畸形的类型和程度都有不同的益处。患者报告的结果显示对上肢功能的满意度更高，疼痛干扰减少，突出了个性化治疗方法的价值。尽管分类系统有所扩展，手术技术有所改进，但手指并指的多因素病因仍需要进一步研究，以完善诊断策略并加强治疗方案，最终改善患者护理。
