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.

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