Presents information on congenital birth defects, giving the name, known or suspect cause and brief description as well as available treatments where applicable.

Alphabetical articles provide information on genetic disorders, including conditions, tests, procedures, treatments, and therapies.

Provides an overview of birth defects, discusses the impact of genetics, disease, chemicals, and radiation, and describes procedures for prenatal detection and treatment

Presents nearly four hundred articles describing genetic disorders, conditions, tests, and treatments, including high-profile diseases such as Alzheimer's, breast cancer, and heart disease.

Birth defects have assumed an importance even greater now than in the past because infant mortality rates attributed to congenital anomalies have declined far less than those for other causes of death, such as infectious and nutritional diseases. As many as 50 % of all pregnancies terminate as miscarriages, and in the majority of cases this is the result of faulty intrauterine development. Major congenital malformations are present in at least 2 % of all liveborn infants, and 22 % of all stillbirths and infant deaths are associated with severe congenital anomalies. Not surprisingly, there has been a great proliferation of research into the problems of developmental abnormalities over the past few decades. This series, Advances in the Study of Birth Defects, was conceived in order to provide a comprehensive focal source of up-to-date information for physi cians concerned with the health of the unborn child and for research workers in the fields of fetal medicine and birth defects. The first four volumes featured recent experimental work on selected areas of high priority and intensive investigation, including mechanisms of teratogenesis, teratological evaluation, molecular and cellular aspects of abnormal development, and neural and behavioural teratology. It seems logical and timely that the clinical aspects should now be presented. Accordingly, leading experts were invited to review a broad range of common problems from the standpoint of embryology, aetiology, clinical manifestations, diagnosis and management. This volume deals with genetic disorders and prenatal diagnosis.

This two-volume encyclopedia examines the history, characteristics, causes, and treatment of genetic disease, as well as the science of genetics itself. Modern science has unlocked many of the mysteries of genetics, providing a blueprint for understanding the origins behind previously mysterious ailments and conditions, both common and uncommon. A complete understanding remains elusive, however: geneticists are still refining theories about what causes chromosomes to mutate, and genetic diseases remain difficult to diagnose and challenging to treat. This fascinating reference explores the scientific and human aspects of this complex field of science. Encyclopedia of Human Genetics and Disease features nearly 400 entries, including well-known genetic diseases, rare and lesser-known genetic diseases, and the genetic factors that may contribute to common diseases and health conditions, such as breast cancer and obesity. The author presents in-depth discussions of concepts essential to understanding genetic disease in 18 entries that provide background on key topics, such as "Genetics 101," the genome and the foundations of genetics, genetic counseling, and newborn screening. Each of the 355 disorders profiled provides the history of the condition, its prevalence, causes, treatment (if any), and further reading. Interesting sidebars and compelling photos that help inform content accompany many entries.