Genetic Disorders

In a strict sense, genetic disorders result from mutations of single genes and include conditions such as cystic fibrosis, sickle cell anemia, and the muscular dystrophies. In a more general sense, however, chromosome abnormalities, multifactorial diseases, and single gene disorders are often thought of as genetic diseases.

The contribution of genetic disorders to human morbidity and mortality varies throughout the life cycle. Chromosomal abnormalities exert their greatest influence during prenatal and early postnatal life. Single gene disorders usually manifest in infancy and childhood. Multifactorial diseases are particularly common causes of adult health problems and include conditions such as coronary artery disease and type 2 diabetes. Most birth defects and other childhood illnesses such as asthma may also be inherited in a multifactorial fashion. As a group, ...