Who gets genetic diseases?


It is estimated that up to 5% of the population have a genetic disease. These could affect patients at different ages.

For example babies may be born with one of more malformations affecting their body such as congenital heart defects, cleft lip or palate or club foot. Some children have no such malformations but they may be found to develop a disease as they become older such as seizures, difficulty with reaching normal developmental milestones (such as starting to talk or walk at the normal time) or have complex conditions diagnosed such as autism. Others children may have been able to develop in the usual way for the first few years but later develop a disease which progressively worsens with time. Adults of varying ages may also develop genetic diseases including some inherited cancers and neurological diseases.

Clinical geneticists are involved in the care of patients from even before birth to adults including the oldest members of a family.

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