- A birth defect is an abnormality present at birth. Also called a congenital defect, it can be caused by a genetic mutation, an unfavorable environment during pregnancy, or a combination of both. The effect of a birth defect can be mild, severe, or incompatible with life.
Definition from: Talking Glossary of Genetic Terms from the National Human Genome Research Institute
- A physical or biochemical defect (as cleft palate, phenylketonuria, or Down syndrome) that is present at birth and may be inherited or environmentally induced.
Definition from: Merriam-Webster's Medical Dictionary by Merriam-Webster Inc.
Related discussion in the Handbook
See also Understanding Medical Terminology.