Congenital Anomalies and Developmental Disorders

Congenital anomalies and developmental disorders refer to deviations from normal development that result in structural or functional abnormalities in the embryo or fetus. These conditions can arise due to genetic mutations, environmental factors, or a combination of both. Major categories of congenital anomalies include structural anomalies (e.g., cleft lip and palate, neural tube defects), chromosomal anomalies (e.g., Down syndrome, Turner syndrome), and developmental anomalies affecting specific organ systems.

The etiology of congenital anomalies can be multifactorial and may involve genetic predisposition, teratogenic exposures during critical windows of development, maternal health conditions, or disruptions in embryonic or fetal development processes. The impact of congenital anomalies on the affected individual can vary widely, ranging from minor cosmetic abnormalities to severe life-threatening conditions that require immediate medical intervention. Early detection through prenatal screening and genetic testing plays a crucial role in the management and counseling of families affected by congenital anomalies.