Congenital anomalies, previously referred to as birth defects, are structural (how the body is built) or functional (how the body works) anomalies present at birth that can cause physical disability, intellectual and developmental disorders, and other health problems. This information focuses on structural anomalies, such as heart, limb, or brain malformations, their causes, their prevention, and their treatments. Functional/developmental congenital anomalies are addressed more completely in the Intellectual and Developmental Disabilities (IDD) information.
Researchers have identified thousands of different congenital anomalies, 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 congenital anomalies are the leading cause of death for infants during the first year of life.
Understanding human development across the lifespan, including congenital anomalies and related or resulting disabilities, was a primary reason NICHD was established. The institute is a leader in research on congenital anomalies, their causes, their prevention and treatments, and their long-term health outcomes.
NICHD is using the term “congenital anomalies” to describe conditions that were once called “birth defects” because the latter carries negative undertones and does not reflect the many abilities and talents of those affected by these differences. Communities are still discussing alternative terms for describing these conditions. Until a consensus is reached, this website will use “congenital anomalies” to describe these health issues.