Understanding genetic conditions

A genetic condition is a disease or disorder that occurs as the result of a change in the DNA sequence before a child is born. Genetic conditions can be caused by:

  • a mutation in one gene (monogenic disorder)
  • mutations in multiple genes (multifactorial inheritance disorder)
  • a combination of gene mutations and environmental factors
  • damage to chromosomes

Facts about genetic conditions

  • A genetic condition can occur when a child inherits an altered gene from their parents that increases the risk of developing a particular condition.
  • Not all genetic conditions are hereditary, some gene changes occur randomly before birth.
  • Genes are contained in a number of packages called chromosomes. You have 23 pairs of chromosomes, 46 in total.
  • Changes in your chromosomes, can cause genetic conditions.
  • Approximately 6 out of 10 people will be affected by a condition which has some genetic background.
  • Genetic conditions can range from mild to very severe.
  • Researchers have identified more than 4,000 diseases that are caused by mutations.


What are some recognised genetic conditions?

Genetic conditions are complex and varied, with different changes in DNA presenting many different physical and intellectual symptoms.

  • Down syndrome – a genetic condition caused by the occurrence of an extra chromosome.
  • Angelman syndrome – a rare neuro-genetic disorder causing physical and intellectual developmental delay.
  • Cystic fybrosis – a genetic condition that affects the lungs and digestive system
  • Ehlers-Danlos syndrome – a group of connective tissue disorders that can cause joint hypermobility, skin hyperextensibility (skin that can be stretched further than normal), and tissue fragility.
  • Fragile X syndrome – a genetic condition which causes intellectual, behavioural and learning challenges.


How can we help?

We can help you on your journey with your child in many ways. Our services aim to support children to reach their full potential through:

  • Allied Health professionals and Early Intervention therapies including; Physiotherapy, Occupational Therapy, and Speech Pathology
  • Support at home
  • Equipment and aids
  • Support at school

To find out more about how we can support you and your family, call us on 1800 275 753 or fill out the form below.


References:

https://www.cysticfibrosis.org.au/
https://www.ehlers-danlos.com
https://www.angelman.org
https://www.healthdirect.gov.au
https://healthywa.wa.gov.au/
https://www.genome.gov

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