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

Area of Science:

• Genetics and Developmental Biology
• Orthopedic Surgery

Background:

• Syndactyly (SD) is a common congenital limb malformation.
• Understanding its genetic basis and phenotypic variability is crucial for effective management.

Purpose of the Study:

• To provide a comprehensive review of current knowledge on syndactyly.
• To explore genetic heterogeneity, gene mutations, and surgical advancements in SD.
• To propose a genetic analysis framework for improved genotype-phenotype correlations.

Main Methods:

• Literature review of recent advancements in syndactyly research.
• Analysis of phenotypic classification and genetic mutations in SD.
• Discussion of novel surgical techniques and their clinical outcomes.

Main Results:

• Identified significant genetic heterogeneity and novel gene mutations in various SD types.
• Highlighted the critical role of HOXD13 mutations in limb deformities and differential phenotypes.
• Reviewed successful modern surgical techniques including free skin grafting and Z-method incision.

Conclusions:

• Genetic factors, particularly HOXD13 mutations, play a key role in syndactyly pathogenesis and variability.
• Modern surgical interventions offer promising outcomes with minimal complications.
• A standardized genetic analysis approach is needed to refine genotype-phenotype correlations in syndactyly.