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Definition of Congenital malformation

Medically reviewed by Min Clinic Staff | Updated: January 2026

Congenital malformation: A physical defect present in a baby at birth that can involve many different parts of the body, including the brain, heart, lungs, liver, bones, and intestinal tract. Congenital malformation can be genetic, it can result from exposure of the fetus to a malforming agent (such as alcohol), or it can be of unknown origin. Congenital malformations are now the leading cause of infant mortality (death) in the US and many other developed nations. Examples include heart defects, cleft lip and palate, spina bifida, limb defects, and Down syndrome.