Unraveling the Genetic Basis of Omphalocele: A Systematic Review

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.

Written by the GCMD Library team from the article.