Unraveling the Genetic Basis of Omphalocele: A Systematic Review

jpedsurg.org

Omphalocele is one of the most common congenital defects of the abdominal wall. Although a genetic contribution is strongly suspected, the underlying mechanisms remain poorly understood. The aim of this study was to systematically review and analyze genes potentially involved in omphalocele formation, with the objective of clarifying its pathophysiology and identifying key embryological stages.

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Article · Feb 2026 · 1 min read

In brief

This systematic review examines the genetic underpinnings of omphalocele, a common congenital abdominal wall defect. The study analyzes candidate genes and embryological pathways to advance understanding of disease mechanisms and inform clinical management of this birth anomaly.

Omphalocele has a suspected genetic basis, but underlying mechanisms remain poorly understood despite being a common abdominal wall defect.
Systematic gene analysis may clarify omphalocele pathophysiology and identify critical embryological stages of abdominal wall closure.
Understanding genetic contributors could improve prenatal counseling and guide future targeted diagnostic or therapeutic approaches.

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