NICHD Congenital Anomalies Research Information

Understanding human development across the lifespan, including congenital anomalies and related or resulting disabilities, was a primary reason NICHD was established in 1962.

Since then, the institute has helped to establish a research community and research infrastructure for studying congenital anomalies and related disabilities. Through its many components, NICHD conducts and supports research to understand congenital anomalies; their causes and mechanisms; their prevention, detection, and treatments; and the long-term health outcomes of individuals and families affected by them.

This information focuses on research on structural congenital anomalies, their causes, their prevention, and their treatments. Research on functional/developmental congenital anomalies is addressed more completely in the intellectual and developmental disabilities content and in the condition-specific topics.

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.