Genetic disorders are genetic anomalies that are usually associated with diseases encoded in the genetic material of cells since the conception of a child. Some forms of these genetic disorders are a result of abnormalities due to errors in cell division, causing either a lack of an X or a Y chromosome, or an excess of one. Klinefelter's syndrome results from a male with 2 X chromosomes, and Down's syndrome results from having an extra chromosome 21. At the moment, some 4,000 genetic disorders have been discovered so far. This is a result of the most genetic disorders being rare, usually present in one in some thousand people. One of the more common genetic diseases is cystic fibrosis, with about 5% of the American population carrying a copy of the gene carrying the disease.

The study of genetic diseases is usually undertaken under the specific field of population genetics. The diagnosis of genetic diseases is under the purview of geneticists, with genetic counsellors directly assisting physicians and patients once diagnosis of such diseases has been confirmed. Some genetic disorders are caused by a single gene that underwent mutation, and may be passed on to later generations. Other more complex disorders may be polygenic, which means that the disorder is likely a result of the confluence of multiple genes. Examples of polygenic genetic disorders include diabetes.

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