What are congenital anomalies?

The March of Dimes defines a congenital anomaly, or birth defect, as follows: "any structural or functional anomaly [problem] manifesting at any age of environmental or genetic nature (inherited or not) due to causes acting before birth." [23]

Congenital anomalies are grouped into three major categories:
  • structural/metabolic
  • congenital infections
  • other conditions
Structural/metabolic anomalies may involve the:
  • Cardiovascular system ( Tetrology of Fallot, single ventricle, persistent truncus arteriosus)
  • Musculoskeletal system (club foot, cleft lip, cleft palate)
  • Reproductive and urinary systems (hypospadias, urinary fistula, hermaphrodism, horseshoe kidney)
  • Nervous system and eye (anencephaly, spina bifida)
  • Gastrointestinal system (duodenal atresia, intestinal atresia, hypertrophic pyloric stenosis)
  • Chromosomal problems (Down Syndrome)
Congenital (inborn) infections include:
  • Congenital syphilis
  • Congenital HIV
  • Congenital rubella
Congenital anomalies are the leading cause of infant mortality in the United States, accounting for more than 20% of all infant deaths. [1]