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Inherited Disorders and Birth Defects

Genetic Disorders

A genetic disorder can be caused by a problem in one or more of the genes. This means that the information in the gene is faulty. This problem can disrupt the normal function of a vital system - such as the immune system or the endocrine system - or prevent normal development of an organ, bones, or skin. It can also significantly increase a person's chances of developing a particular disease, such as diabetes or breast cancer. Birth defects or genetic disorders can also be caused by a problem with the number or structure of chromosomes. Usually this results in multiple body systems being affected.

Collectively, genetic disorders account for a significant portion of human disease and conditions and can present themselves in several different ways. The most widely recognized genetic disorders include Down syndrome, spina bifida, and sickle cell anemia. Also, more information is available about the genetics of common diseases such as cancer. There are more than 6,000 known genetic disorders.

Statistics on Genetic Disorders

Genetic disorders can be lethal or result in conditions that require significant medical care.  For example, children and adults who have cystic fibrosis or sickle cell anemia, two of the most common inherited disorders, often need to be hospitalized for treatment of these diseases.  Increasingly, scientists are learning that many common diseases that typically arise later in life - diabetes, some types of heart disease, cancer, and arthritis - may run in families and have a strong genetic component.1


1. Nussbaum, RL, McInnes RR, Willard HF. Thompson & Thompson's Genetics in Medicine, 7th ed. 2007, WB Saunders Company, Philadelphia, PA

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Last Reviewed: Jun 28, 2010

Associate Professor of Genetics
School of Medicine
Case Western Reserve University