SYNDACTYLY SYNDROME IN ASIAN POPULATIONS: GENETIC IDENTIFICATION AND PROGNOSTIC PERSPECTIVES

Quan Quoc Dang 1, 2 , , Le Quang Tri 3
1 Trường Đại học Khoa học Tự nhiên, Đại học Quốc gia Thành phố Hồ Chí Minh image/svg+xml
2 Bệnh viện Thống Nhất image/svg+xml
3 Military Hospital 175, Viet Nam
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DOI
10.63947/bvtn.v2i7.15
Xuất bản
27-02-2026
Số Tập 2 Số 7 (2026): Multimodal approaches in geriatrics
Chuyên mục
Nghiên cứu gốc
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Nghiên cứu khoa học

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1.
Quoc Dang Q, Quang Tri L. SYNDACTYLY SYNDROME IN ASIAN POPULATIONS: GENETIC IDENTIFICATION AND PROGNOSTIC PERSPECTIVES. JHA [Internet]. Vietnam; 2026 tháng 2 27 [cited 2026 tháng 2 28];2(7):117–124. https://tcsuckhoelaohoa.vn/bvtn/article/view/183 doi: 10.63947/bvtn.v2i7.15
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Tóm tắt

Syndactyly is among the most common congenital limb malformations and is characterized by substantial genetic and clinical heterogeneity. Although its global incidence is well recognized, accumulating evidence indicates that Asian populations exhibit distinct mutational spectra and variable prognostic profiles. This review systematically summarizes recent molecular and clinical findings from Asian cohorts, with emphasis on pathogenic variants, modifier effects, surgical outcomes, and advances in prenatal diagnostics. Literature published between 2008 and 2023 was retrieved from major biomedical databases following PRISMA-guided principles. Studies from Chinese, Mongolian, and Vietnamese families have repeatedly identified pathogenic variants in key developmental genes, including HOXD13, GLI3, GJA1, and FGFR2, highlighting the central role of convergent signaling pathways such as Hedgehog, WNT/BMP, and FGF in digit morphogenesis and interdigital apoptosis. Asian cohort data further demonstrate incomplete penetrance and intrafamilial variability, suggesting contributions from modifier gene networks and epigenetic influences. Clinically, the integration of next-generation sequencing into surgical planning and prenatal counseling has improved diagnostic precision and prognostic stratification, although molecular evidence remains uneven across Southeast Asia. Asian-specific syndactyly research provides critical insights into population-adapted genetic counseling and emerging precision medicine strategies. Future multi-center genomic studies with standardized clinical reporting will be essential to refine genotype–phenotype correlations and advance individualized management across diverse Asian populations.

 

Từ khóa

Syndactyly Asian populations HOXD13 GLI3 GJA1 FGFR2 genotype–phenotype correlation prenatal diagnosis precision medicine

Tài liệu tham khảo

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