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The majority of babies in Australia are born healthy. However, approximately 3% may be born with a genetic condition.
Many of the health or developmental problems seen at birth are either directly due to a fault in the genetic information, or are due to a combination of the inherited genetic information and environmental factors such as diet, chemical exposure and lifestyle. Other genetic conditions may not be noticed until childhood, adolescence or adulthood.
Follow the links below to find information genetic diseases and disorders.
Updated January 2008
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Related HealthInsite Topics
Brain Diseases
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Links to information about a range of brain diseases.
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Chromosome Defects
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Links to information about chromosome defects, including Down Syndrome and Fragile X Syndrome.
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Colour Blindness
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Links to information about colour blindness.
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Cystic Fibrosis
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Links to information on cystic fibrosis.
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Haemophilia
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Links to information about haemophilia.
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Huntington's Disease
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Links to information and support for people affected by Huntington´s Disease.
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Long QT Syndrome
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Links to information about Long QT Syndrome.
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Muscular Dystrophy
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Links to information on muscular dystrophy.
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Sickle Cell Disease
HealthInsite Topic Page
Links to information about sickle cell disease.
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Thalassaemia
HealthInsite Topic Page
Links to information on thalassaemia.
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Tourette Syndrome
HealthInsite Topic Page
Links to information about Tourette Syndrome.
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Tuberous Sclerosis
HealthInsite Topic Page
Links to information about tuberous sclerosis, a genetic disorder that commonly causes tuber like growths in the brain.
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| Title: |
Congenital adrenal hyperplasia
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| Publisher: |
Better Health Channel
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| Description: |
Congenital adrenal hyperplasia (CAH) is an inherited disorder of the adrenal glands. The condition is often diagnosed at birth. It means the child will either not produce adrenal hormones or will produce them in the wrong amounts. There is no cure, but CAH can be managed with hormonal treatment.
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| Date: |
Jun 2008
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| Title: |
Human genetics and genetic technologies
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| Publisher: |
National Health and Medical Research Council (NHMRC)
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| Description: |
Nationally and internationally advances in genetic research and genetic testing are ongoing. Information on ethical aspects of genetic research and genetic testing including privacy and confidentiality, are provided.
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| Date: |
Jun 2008
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| Title: |
Von Willebrand disease
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| Publisher: |
myDr
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| Description: |
Find out about Von Willebrand disease, an inherited bleeding disorder that affects one in 1000 people.
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| Date: |
May 2008
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| Title: |
Genetic testing for inherited cancer
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| Publisher: |
Better Health Channel
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| Description: |
A predisposition to certain cancers can be inherited via altered genes. Genetic testing aims to detect a genetic alteration that might increase the chances of a person developing a particular cancer. This testing is available to some families with a high risk of a genetic predisposition to certain cancers.
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| Date: |
Apr 2008
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| Title: |
Privacy and genetic information
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| Publisher: |
Consumers' Health Forum of Australia (CHF)
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| Description: |
When a person is diagnosed with a genetic condition, where does their right to privacy and their family's right to know begin?
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| Date: |
Apr 2008
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| Title: |
Treacher Collins syndrome
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| Publisher: |
Better Health Channel
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| Description: |
Treacher Collins syndrome is a genetic disorder that affects the growth and development of the head. This genetic condition prevents the skull, cheek and jawbones from developing properly, causing facial birth defects, cleft palate and hearing loss. In most cases, the child's intelligence is normal. Treatment includes reconstructive craniofacial surgery.
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| Date: |
Mar 2008
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| Title: |
Genes and genetics - related parents
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| Publisher: |
Better Health Channel
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| Description: |
A relationship between related people is called consanguinity. Related parents are more likely than unrelated parents to have children with health problems or disorders, although the risk for the children of first cousins is still quite low. The risk of genetic disorders is higher because the two parents share a common ancestor and much of their genetic material.
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| Date: |
Mar 2008
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| Title: |
Kidneys - polycystic kidney disease
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| Publisher: |
Better Health Channel
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| Description: |
Polycystic kidney disease (PKD) is characterised by the growth of cysts on the kidneys. There is currently no cure but medical treatment can manage symptoms and reduce the risk of complications.
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| Date: |
Mar 2008
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| Title: |
Kabuki syndrome
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| Publisher: |
Better Health Channel
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| Description: |
Kabuki syndrome is a rare genetic disorder with a range of characteristics including intellectual disability, distinctive facial features and skeletal abnormalities. There is no cure.
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| Date: |
Feb 2008
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| Title: |
Polycystic kidney disease (PKD)
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| Publisher: |
Virtual Medical Centre.com
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| Description: |
Information on the symptoms, treatment and diagnosis of adult polycystic kidney disease by professional health specialists.
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| Date: |
Feb 2008
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| Title: |
Welcome to the Centre for Genetics Education in Sydney, Australia
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| Publisher: |
Centre for Genetics Education
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| Description: |
The Centre for Genetics Education is dedicated to providing current and relevant genetics information to individuals and family members affected by genetic conditions and the professionals who work with them.
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| Title: |
Criteria and Conditions
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| Publisher: |
Australian Government Department of Health and Ageing
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| Description: |
Criteria and Conditions Applying to Financial Assistance under Life Saving Drugs Program
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| Date: |
Dec 2007
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| Title: |
Usher syndrome
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| Publisher: |
Better Health Channel
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| Description: |
Usher syndrome is a genetic disorder characterised by the loss of both hearing and vision. Some people also experience problems with balance. The available services aim to help the person prepare for and cope with this dual sensory loss.
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| Date: |
Nov 2007
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| Title: |
Treatment for Charcot-Marie-Tooth disease
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| Publisher: |
John Wiley and Sons, Ltd. for The Cochrane Collaboration
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| Description: |
Charcot-Marie-Tooth disease is a broad spectrum of different types of inherited peripheral neuropathy. The most common types affect motor and sensory nerves and cause muscle wasting and sensory loss. There have been few trials of treatment for Charcot-M...
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| Date: |
Nov 2007
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| Title: |
Treatment for periodic paralysis
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| Publisher: |
John Wiley and Sons, Ltd. for The Cochrane Collaboration
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| Description: |
Muscle weakness and attacks of paralysis are two important features of periodic paralyses. Paralytic attacks occur in acute episodes and can be incapacitating. Attacks may last from several hours to several days according to the type of muscle channel i...
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| Date: |
Nov 2007
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| Title: |
Genes
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| Publisher: |
Child and Youth Health - CYH (South Australia)
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| Description: |
When people first see a new baby they seem to play a game called 'who does she look like?' - because a baby inherits bits from both mum and dad. These bits come from something called genes.
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| Date: |
Sep 2007
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| Title: |
Kabuki Syndrome
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| Publisher: |
Child and Youth Health - CYH (South Australia)
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| Description: |
Kabuki syndrome is a rare disorder. It is a genetic cause of developmental delay. People with Kabuki syndrome have facial features that look like the made-up faces of actors in Kabuki, which is traditional Japanese theatre.
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| Date: |
Aug 2007
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| Title: |
Genes - not the kind you wear!
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| Publisher: |
Child and Youth Health - CYH (South Australia)
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| Description: |
What are genes? How embarrassing is it when you haven't seen a friend of the family or a relative for a while, and they say things like 'he looks just like his father!' Why would they say stuff like that? Because your genes, the instructions for making you, come from your mum and her family and your dad and his family
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| Date: |
Aug 2007
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| Title: |
Charcot-Marie-Tooth disease
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| Publisher: |
Better Health Channel
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| Description: |
Charcot-Marie-Tooth disease (CMT) affects the peripheral nervous system. The nerves of the limbs gradually stop working properly and this leads to wasting of the muscles that are served by those nerves. The muscles of the ankles, feet and hands are often most affected.
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| Date: |
Jul 2007
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