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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
HealthInsite Topic Page
Links to information about a range of brain diseases.
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Chromosome Defects
HealthInsite Topic Page
Links to information about chromosome defects, including Down Syndrome and Fragile X Syndrome.
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Colour Blindness
HealthInsite Topic Page
Links to information about colour blindness.
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Cystic Fibrosis
HealthInsite Topic Page
Links to information on cystic fibrosis.
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Haemophilia
HealthInsite Topic Page
Links to information about haemophilia.
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Huntington's Disease
HealthInsite Topic Page
Links to information and support for people affected by Huntington´s Disease.
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Long QT Syndrome
HealthInsite Topic Page
Links to information about Long QT Syndrome.
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Muscular Dystrophy
HealthInsite Topic Page
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: |
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: |
Thyroid conditions - Q & A
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| Publisher: |
Better Health Channel
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| Description: |
A range of questions on thyroid conditions. Our experts provide the answers.
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| Date: |
Jul 2007
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| Title: |
Williams syndrome
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| Publisher: |
Better Health Channel
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| Description: |
Williams syndrome is a rare genetic disorder. It is characterised by certain physical features and behaviours including a distinctive facial appearance, mild intellectual disability and an overly sociable personality.
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| Date: |
Mar 2007
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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: |
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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| Title: |
Kennedy's disease
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| Publisher: |
Better Health Channel
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| Description: |
Kennedy's disease is a rare inherited neuromuscular disorder that causes progressive weakening and wasting of the muscles, particularly the arms and legs. There is no cure, and treatment can only ease some of the symptoms.
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| Date: |
Jul 2008
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| Title: |
Genes and genetics
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| Publisher: |
Better Health Channel
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| Description: |
Genes are the blueprint for our bodies. They control our growth, development and functioning. A genetic mutation means that a gene contains a fault that disrupts the gene message. Sometimes, a faulty gene is passed on from parent to child. Genetic mutations can cause a wide range of disorders.
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| Date: |
Jan 2007
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| Title: |
Gene therapy
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| Publisher: |
Better Health Channel
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| Description: |
Genetic faults can directly cause a wide range of disorders such as cystic fibrosis and haemophilia, and may be involved in susceptibility to some cancers. Gene therapy is an experimental form of treatment that works by replacing a faulty disease-causing gene with a healthy version.
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| Date: |
Jan 2007
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| Title: |
Wilson's disease
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| Publisher: |
Better Health Channel
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| Description: |
Wilson's disease is a genetic disorder that prevents the body from eliminating copper. The excess copper damages certain structures including the liver and nervous system. There is no cure for this potentially fatal disease, but it can be managed.
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| Date: |
May 2007
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| Title: |
Prader-Willi syndrome
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| Publisher: |
Better Health Channel
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| Description: |
Prader-Willi syndrome is a rare genetic disorder, which affects development and growth. Characteristics may include short stature, skeletal abnormalities, eye problems, intellectual disability and an insatiable appetite that often leads to obesity.
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| Date: |
May 2007
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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: |
Phenylketonuria (PKU)
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| Publisher: |
Better Health Channel
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| Description: |
Phenylketonuria (PKU) is an inherited disorder. It occurs when the body cannot break down a substance in food, called phenylalanine. As phenylalanine builds up in the blood, it causes brain damage. Early detection and intervention with a special diet can prevent intellectual disability and result in normal growth and development.
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| Date: |
Mar 2007
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| Title: |
Glaucoma - detection and management
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| Publisher: |
Better Health Channel
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| Description: |
Glaucoma is a common eye disease that often runs in families. It develops slowly and gradually over a number of years. If it is not detected early and treated, it can lead to blindness. Glaucoma can be controlled but it can't be cured.
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| Date: |
Mar 2007
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| Title: |
Von Willebrand's disorder
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| Publisher: |
Better Health Channel
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| Description: |
Von Willebrand's disorder (VWD) is an inherited bleeding disorder. People with von Willebrand's may have frequent nosebleeds, easy bruising, heavy menstruation (periods) and/or excessive bleeding from the mouth.
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| Date: |
Jul 2008
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| Title: |
Types of family cancer
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| Publisher: |
The Cancer Council Australia
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| Description: |
Lists the several types of family cancer and provides links to further information.
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| Date: |
Oct 2007
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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: |
Friedreich's ataxia
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| Publisher: |
Better Health Channel
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| Description: |
Friedreich's ataxia is a relatively rare inherited disease of the nervous system characterised by the gradual loss of balance, coordination and muscular control. There is no cure but the symptoms can be managed with medication and physical therapy.
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| Date: |
Sep 2008
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| Title: |
Infantile spinal muscular atrophy
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| Publisher: |
Better Health Channel
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| Description: |
Infantile spinal muscular atrophy is an inherited condition. The nerve cells that service the muscles don't work properly, causing muscle weakness and withering. There is no cure. A child with this disorder rarely lives beyond three years.
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| Date: |
Nov 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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