Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions About   Site Map   Contact Us
 
Home A service of the U.S. National Library of Medicine®
0-9 | A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q-R | S | T | U | V | W | X | Y-Z

Birth defect

Definition(s)

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 TermsThis link leads to a site outside Genetics Home Reference. 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 DictionaryThis link leads to a site outside Genetics Home Reference. by Merriam-Webster Inc.

Related discussion in the Handbook

See also Understanding Medical Terminology.

 
Published: July 27, 2015