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Birth Defects: Overview

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Birth defects are structural or functional abnormalities present at birth that can cause physical disability, intellectual and developmental disability (IDD), and other health problems.

Researchers have identified thousands of different birth defects, and some are more disruptive than others. If not detected and treated quickly, some can be fatal or cause lifelong disabilities. Currently, birth defects are the leading cause of death for infants during the first year of life.

Understanding human development across the life span, including birth defects and related or resulting disabilities, was a primary reason the NICHD was established. The institute is a leader in research on birth defects, their causes, their prevention and treatments, and their long-term health outcomes.

The NICHD is aware that the term "birth defects" carries negative undertones and that the term does not reflect the many abilities and talents of those affected by these problems. Communities are discussing alternative terms for describing these birth problems. Until a consensus is reached, this website uses the term "birth defects" to describe health problems present at birth.

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Common Name

  • Birth defects

Medical or Scientific Name

  • Birth defects
Last Reviewed: 11/30/2012
Vision National Institutes of Health Home BOND National Institues of Health Home Home Storz Lab: Section on Environmental Gene Regulation Home Machner Lab: Unit on Microbial Pathogenesis Home Division of Intramural Population Health Research Home Bonifacino Lab: Section on Intracellular Protein Trafficking Home Lilly Lab: Section on Gamete Development Home Lippincott-Schwartz Lab: Section on Organelle Biology