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Genetic Diseases and Disorders
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 about genetic diseases and disorders.
For information on genetic screening and diagnosis of specific genetic conditions, follow the links to the HealthInsite topic pages below.
Updated September 2011
Related HealthInsite Topics
HealthInsite Topic Page
Links to information about birth defects, including congenital heart defects, spina bifida, cleft lip and palate and various syndromes.
HealthInsite Topic Page
Links to information about a range of brain diseases.
HealthInsite Topic Page
Links to information about chromosome defects, including Down Syndrome and Fragile X Syndrome.
HealthInsite Topic Page
Links to information on the various types of cancer, including prevention, risk factors, treatment, support services and statistics.
HealthInsite Topic Page
Links to information about colour blindness.
HealthInsite Topic Page
Links to information on cystic fibrosis.
HealthInsite Topic Page
Links to information about Friedreich´s Ataxia.
HealthInsite Topic Page
Links to information on genetic screening and diagnosis.
HealthInsite Topic Page
Links to information about haemochromatosis.
HealthInsite Topic Page
Links to information about haemophilia.
HealthInsite Topic Page
Links to information and support for people affected by Huntington´s Disease.
HealthInsite Topic Page
Links to information about Long QT Syndrome.
HealthInsite Topic Page
Links to information on muscular dystrophy.
HealthInsite Topic Page
Links to information about phenylketonuria.
HealthInsite Topic Page
Links to information about sickle cell disease.
HealthInsite Topic Page
Links to information on thalassaemia.
HealthInsite Topic Page
Links to information about Tourette Syndrome.
HealthInsite Topic Page
Links to information about tuberous sclerosis, a genetic disorder that commonly causes tuber like growths in the brain.
HealthInsite Topic Page
Links to information about Von Willebrand Disease, or Disorder.
49 Resources Found
| Title: | Other supply arrangements outside the Pharmaceutical Benefits Scheme (PBS) |
|---|---|
| Publisher: | Australian Government Department of Health and Ageing |
| Description: | The following page describes the drugs available through the Life Saving Drugs Program (LSDP). |
| Date: | Nov 2011 |
| Title: | Infantile spinal muscular atrophy |
|---|---|
| Publisher: | Better Health Channel |
| Description: | Infantile spinal muscular atrophy (SMA) is an inherited genetic condition and is also known as Werdnig-Hoffman disease. The nerve cells that service the muscles don't work properly, causing muscle weakness and withering. There is no cure. Treatment can ease complications including pneumonia and breathing difficulties. A child with SMA rarely lives beyond three years. |
| Date: | Oct 2011 |
| Title: | Kidneys - polycystic kidney disease |
|---|---|
| Publisher: | Better Health Channel |
| Description: | Polycystic kidney disease (PKD) is a genetic condition 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. Complications may include urinary tract infections, high blood pressure and kidney failure. |
| Date: | Oct 2011 |
| Title: | Preparing for pregnancy - inherited conditions |
|---|---|
| Publisher: | Child and Youth Health - CYH (South Australia) |
| Description: | Talk to your doctor if you are worried about genetic (inherited) conditions such as cystic fibrosis or thalassemia. |
| Date: | Oct 2011 |
| Title: | Congenital adrenal hyperplasia |
|---|---|
| Publisher: | Better Health Channel |
| 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. |
| Date: | Sep 2011 |
| Title: | Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome) |
|---|---|
| Publisher: | John Wiley and Sons, Ltd. for The Cochrane Collaboration |
| Description: | Hunter syndrome or mucopolysaccharidosis II is a rare genetic disease that occurs when an enzyme that the body needs is either missing or malfunctioning. The body doesn't have adequate supplies of this enzyme to break down certain complex molecules, so... |
| Date: | Sep 2011 |
| Title: | Genes and genetics |
|---|---|
| Publisher: | Better Health Channel |
| Description: | Genes contain information that is used by the cells to control growth, development and functioning. The information they carry is in a form of chemical code. A variation that disrupts the coded message and makes the gene faulty is called a genetic mutation, which can cause a wide range of conditions and can also make you more susceptible to a disease. This doesn't mean you are destined to develop it. |
| Date: | Aug 2011 |
| Title: | Genes - not the kind you wear! |
|---|---|
| Publisher: | Child and Youth Health - CYH (South Australia) |
| 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? |
| Date: | Aug 2011 |
| Title: | Hereditary nephritis - Alport Syndrome |
|---|---|
| Publisher: | Kidney Health Australia |
| Description: | Information on hereditary nephritis or Alport Syndrome |
| Date: | Jul 2011 |
| Title: | Genes and genetics - related parents |
|---|---|
| Publisher: | Better Health Channel |
| Description: | A relationship between related people, such as siblings or cousins, is called consanguinity. Related parents are more likely than unrelated parents to have children with health problems or disorders. The closer the genetic relationship between the parents, the greater the risk of birth defects for their children. Genetic counselling is available for a couple who suspect they may be related. |
| Date: | Jun 2011 |
| Title: | Treacher Collins syndrome |
|---|---|
| Publisher: | Better Health Channel |
| Description: | Treacher Collins syndrome is a genetic disorder that affects the growth and development of the head. This condition causes facial birth defects, cleft palate and hearing loss. In most cases, the child's intelligence is normal. Treatment includes reconstructive craniofacial surgery. Treacher Collins syndrome is also known as mandibulofacial dysostosis or Franceschetti syndrome. |
| Date: | Jun 2011 |
| Title: | Kabuki syndrome |
|---|---|
| Publisher: | Better Health Channel |
| Description: | Kabuki syndrome is a rare genetic disorder with a range of characteristics including intellectual disability, distinctive facial features and skeletal abnormalities. The condition is also known as Niikawa-Kuroki syndrome. There is no cure. |
| Date: | Jun 2011 |
| Title: | Genetics and human health |
|---|---|
| Publisher: | National Health and Medical Research Council |
| Description: | eGenetics is an Australia-wide collection of links and resources for genetic diseases. |
| Date: | Jun 2011 |
| Title: | Gene therapy |
|---|---|
| Publisher: | Better Health Channel |
| Description: | Inheriting faulty genes can directly cause a wide range of conditions, such as cystic fibrosis and haemophilia, and cause susceptibility to some cancers. Gene therapy is an experimental form of treatment that aims to get rid of genetic conditions at their source. Gene therapy may be used to replace a faulty gene with a working version or to introduce a new gene to cure a condition or modify its effects. |
| Date: | May 2011 |
| Title: | Welcome to the Centre for Genetics Education in Sydney, Australia |
|---|---|
| Publisher: | Centre for Genetics Education |
| 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. |
| Title: | Alpha 1-antitrypsin deficiency (A1AD, Alpha-1) |
|---|---|
| Publisher: | Virtual Medical Centre.com |
| Description: | Alpha 1-antitrypsin deficiency is an inherited disease which affects the liver and lungs. Alpha 1-antitrypsin is an enzyme synthesised in the liver. If the level of alpha 1-antitrypsin is too low, protease enzymes can act unopposed, and cause excess protein breakdown. A genetic mutation can cause these low levels of alpha 1-antitrypsin. |
| Date: | Feb 2011 |
| Title: | Aicardi syndrome |
|---|---|
| Publisher: | Virtual Medical Centre.com |
| Description: | Aicardi syndrome is a rare genetic disorder that occurs almost exclusively in girls. It is characterised by infantile spasms, absence of the corpus callosum, mental retardation, and lesions of the retina. Children with Aicardi syndrome often have learning and walking difficulties and will generally require continuous care. |
| Date: | Feb 2011 |
| Title: | Creatine for treating muscle disorders |
|---|---|
| Publisher: | John Wiley and Sons, Ltd. for The Cochrane Collaboration |
| Description: | Hereditary muscle diseases usually lead to a progressive muscle weakness. Treatment is mainly symptomatic because curative therapies are lacking. Creatine, a popular nutritional supplement among athletes, improves muscle performance in healthy individua... |
| Date: | Oct 2010 |
| Title: | Enzyme replacement therapy for Anderson-Fabry disease |
|---|---|
| Publisher: | John Wiley and Sons, Ltd. for The Cochrane Collaboration |
| Description: | Anderson-Fabry disease is a rare X-linked recessive (inherited) lysosomal storage disease. Lysosomal disorders are triggered when a particular enzyme exists in too small an amount or is missing altogether; thus substances that should be broken down by t... |
| Date: | Apr 2010 |
| Title: | Creutzfeldt-Jakob disease |
|---|---|
| Publisher: | Better Health Channel |
| Description: | Creutzfeldt-Jakob disease (CJD) is a rapidly progressive disease that causes deterioration of the brain and dementia. It is one of a group of rare diseases that affects humans and animals. Variant CJD is mistakenly referred to as 'mad cow disease'. There is no cure for CJD and death usually results within two years of the symptoms first appearing. |
| Date: | Jan 2010 |
