Recent Advances in Syndactyly: Basis, Current Status and Future Perspectives.

ABSTRACT: A comprehensive summary of recent knowledge in syndactyly (SD) is important for understanding the genetic etiology of SD and disease management. Thus, this review article provides background information on SD, as well as insights into phenotypic and genetic heterogeneity, newly identified gene mutations in various SD types, the role of HOXD13 in limb deformities, and recently introduced modern surgical techniques for SD. This article also proposes a procedure for genetic analysis to obtain a clearer genotype-phenotype correlation for SD in the future. We briefly describe the classification of non-syndromic SD based on variable phenotypes to explain different phenotypic features and mutations in the various genes responsible for the pathogenesis of different types of SD. We describe

SUBMITTER: Zaib T 

PROVIDER: S-EPMC9141913 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature