Human Genetics and Genetic Diseases

Congenital Disorders

Congenital Disorder, also known as congenital disease, birth defect or anomaly  is a condition existing at or before birth regardless of cause. Of these diseases, those characterized by structural deformities are termed "congenital anomalies" and involve defects in a developing fetus. Birth defects vary widely in cause and symptoms. Any substance that causes birth defects is known as a teratogen. Some disorders can be detected before birth through prenatal diagnosis (screening).

Birth defects are present in about 3% of newborns in USA. Congenital anomalies resulted in about 632,000 deaths per year in 2013 down from 751,000 in 1990. The type with the greatest numbers of deaths are congenital heart disease (323,000), followed by neural tube defects (69,000).