Genetic disorders - Better Health Channel.
A genetic disorder is caused by an altered set of genes. The four broad groups of genetic disorders include single gene disorders, chromosome abnormalities, mitochondrial disorders and multifactorial disorders. The four ways of inheriting an ... [... more]
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Williams syndrome
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. Williams syndrome is a rare ... [... more]
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Genetic services in Victoria
Genetic services in Victoria cover diagnosis, screening and testing, counselling and ongoing management of individuals and families with particular birth defects and genetic disorders. Services available include maternal serum screening (MSS), ... [... more]
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Hearing problems in children
Hearing problems in children can be caused by factors including otitis media (infection of the middle ear), exposure to disease in utero such as rubella (German measles), genetic disorders, exposure to loud noise, and certain diseases including ... [... more]
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Usher syndrome - Better Health Channel.
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. Usher ... [... more]
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Dwarfism - Better Health Channel.
Dwarfism generally refers to a group of genetic disorders characterised by shorter than normal skeletal growth. Achondroplasia is the most common type of dwarfism. The majority of children born with this condition have average-sized parents. ... [... more]
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Turner's syndrome
Turner's syndrome is a genetic disorder that affects females. Usually, a female has two X chromosomes; in females with Turner's syndrome, one of these chromosomes is missing or abnormal. Characteristics of this disorder include short stature and ... [... more]
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Prader-Willi syndrome
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 ... [... more]
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Wilson's disease
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 ... [... more]
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Thalassaemia
Thalassaemia is a genetic disorder that affects the production of haemoglobin, the oxygen-carrying protein in red blood cells. Without ongoing treatment, thalassaemia causes severe anaemia and death. There is no cure, but treatment includes ... [... more]
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Cystic fibrosis - Better Health Channel.
Cystic fibrosis (CF) is a life threatening genetic disorder. It severely affects the lungs and digestive system. There is currently no cure; however, with improved medication and treatment to manage symptoms, life expectancy has been extended ... [... more]
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Kabuki syndrome
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 and appears to be more ... [... more]
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