Congenital Malformations & Birth Complications

A congenital disorder, also known as a congenital disease, deformity, birth defect, or anomaly, is a condition existing at or before birth regardless of cause. Of these disorders, those characterized by structural deformities are termed "congenital anomalies" and involve defects in a developing fetus. Birth defects vary widely in cause and symptoms. Any substance that causes birth defects is known as a teratogen. Some disorders can be detected before birth through prenatal diagnosis (screening).

Birth defects may be the result of genetic or environmental factors. This includes errors of morphogenesis, infection, epigenetic modifications on a parental germline, or a chromosomal abnormality. The outcome of the disorder will depend on complex interactions between the pre-natal deficit and the post-natal environment. Animal studies indicate that the mother's (and likely the father's) diet, vitamin intake, and glucose levels prior to ovulation and conception have long-term effects on fetal growth and adolescent and adult disease. Animal studies have shown that paternal exposures prior to conception and during pregnancy result in increased risk of certain birth defects and cancers.

  • Congenital heart disease in newborns
  • Spina bifida
  • Cleft lip and cleft palate
  • Congenital dislocated hip
  • Congenital malformations of genital organs
  • Deformations of the musculoskeletal system
  • Down syndrome
  • Club foot
  • Phenylketonuria


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