Congenital or acquired

Not all genetic disorders are inherited. Some genetic mutations or chromosomal abnormalities can occur spontaneously, and we call these de-novo mutations.

It is therefore possible for an inherited disorder to appear in a family out of nowhere, because once the mutation has occurred it can also be passed on to the next generation. This means that it is not always easy to estimate the likelihood that an individual person will have an inherited disorder.

The phenomenon of chromosome duplication (as in trisomy 21 or Down's syndrome) cannot always be called inherited, although it is a congenital disorder which normally occurs in every cell in the body. In other words it is genetic but not always inherited, so it does not occur until the time when the embryo is formed.

What is more, an embryo may, while developing in the uterus, undergo a genetic mutation that results in an abnormality. Although a certain genetic predisposition may cause the abnormality, in these cases it may also occur due to purely external factors, such as the mother's diet, environment or state of health during the pregnancy.

Finally there are some genetic disorders that appear later in life and do not occur in all our cells. If these cause a disease or abnormality we call them 'acquired' or 'sporadic'. Cancer is one example of a genetic disease: a specific DNA mutation transforms healthy cells in the body into cancer cells with specific characteristics. This allows them to escape from the control mechanisms that regulate the division, growth and functioning of cells in our body and they begin to grow in an uncontrolled way.

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