Global research status and trends in macrodactyly research: Bibliometric and visualized analysis from 2005 to 2025

To provide a comprehensive bibliometric and visualized analysis of global macrodactyly research from 2005 to 2025, identify publication trends, leading contributors, research hotspots, and emerging directions in this rare congenital disorder.

Publications from January 1,2005 to November 31,2025 were retrieved from the Web of Science Core Collection. English-language articles and reviews were included using the search terms "macrodactyly," "megalodactyly," "digital gigantism," and "giant digit." After removing duplicates, retracted items, and non-relevant records, eligible studies were analyzed. Microsoft Excel, VOSviewer, and CiteSpace were used to evaluate publication trends, geographic distribution, collaboration networks, and keyword co-occurrence patterns.

A total of 162 publications met the inclusion criteria. Annual output increased steadily, with peaks in 2014 and 2020, and a strong upward cumulative trend (R2 = 0.9933). Research was mainly concentrated in the USA, China, and Europe, with limited intercontinental collaboration. Author and institutional analyses revealed several distinct collaboration clusters. Keyword co-occurrence and temporal mapping demonstrated a shift from early clinical and surgical topics toward molecular and genetic research, particularly involving PIK3CA-related mechanisms.

Macrodactyly research has expanded over the past 2 decades, evolving from clinical descriptions to mechanistic studies driven by advances in molecular genetics. The identification of PIK3CA mutations has reshaped the field and introduced opportunities for targeted therapy. Despite increasing output, international collaboration remains limited. Future work should focus on multicenter studies, precision medicine approaches, and the development of evidence-based treatment strategies.