Birth Defects

Birth defects are structural (how the body is built) or functional (how the body works) abnormalities present at birth that can cause physical disability, intellectual and developmental disorders, and other health problems. This information focuses on structural birth defects, such as heart, limb, or brain malformations, their causes, their prevention, and their treatments. Functional/developmental birth defects are addressed more completely in the Intellectual and Developmental Disabilities (IDD) information.

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, the Centers for Disease Control and Prevention notes that birth defects are the leading cause of death for infants during the first year of life.

Understanding human development across the lifespan, including birth defects and related or resulting disabilities, was a primary reason 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.

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 these health issues.

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