Genetic Conditions

A genetic condition stems from a change in our DNA sequence and is  a result of a mutation in one or more of our genes. Some mutations occur randomly, some can develop due to environmental exposures  and some can be inherited from our birth parents. Some genetic conditions are quite common whilst others are quite rare and often unheard of.


test tube and microscope

With over 6,000 known genetic disorders it is not possible to identify them all in this section, however, an example of some of the more common ones are:

  • Down's Syndrome
  • Fragile X syndrome
  • Cleft palate
  • Turner syndrome
  • Muscular Dystrophy
  • Cystic Fibrosis

How are these identified?

Genetic conditions are normally identified by genetic testing which is usually done by examining the genes, chromosomes or the proteins in a sample of blood or saliva. If required, this is something that your child's paediatrician or specialist will discuss with you.

Please follow the link below to read more about genetic testing.

NHS: Genetic and genomic testing

Further information

For further information and advice about genetic conditions please use the link below to Unique: Understanding Rare Chromosome and Gene Disorders website where you will be able to access free information guides for parents and also download or print picture books for children. Unique have also produced many useful practical guides around key topics such as Challenging Behaviours, Education, Puberty, Sleep and Transition.

Unique: Rare Chromosome & Gene Disorder Guides

Unique: Practical guides for families

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  • Page last reviewed: 8 January 2024
  • Next review due: 6 February 2025