Genes and genetics
Genes are inherited and contain information that our cells use to control growth, development and health. Genetic changes disrupt these messages and can cause health problems. These may be present at birth or may appear later in life.
A-Z of genetic conditions
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Topic: Genetic conditions A to Z
The characteristic features of Angelman syndrome are not always obvious at birth, but develop during childhood.
Ankylosing spondylitis (AS) is a type of inflammatory arthritis that targets the joints of the spine.
Bipolar disorder is a type of psychosis, which means the person’s perception of reality is altered. It is characterised by extreme mood swings
The causes of ambiguous genitalia include genetic variations, hormonal imbalances and malformations of the fetal tissues that are supposed to evolve into genitals.
Folic acid taken before conception, and during at least the first four weeks of pregnancy, can prevent around seven out of 10 cases of neural tube defects.
Charcot-Marie-Tooth disease is the most common inherited disorder affecting the peripheral nervous system.
Familial hypercholesterolaemia is an inherited condition characterised by higher than normal levels of blood cholesterol.
Most cleft palates and cleft lips can be repaired so that appearance and speech develop normally.
People with colour blindness usually have difficulty with the colours green, yellow, orange and red.
CAH is a fairly uncommon genetic disorder, but it is well understood and treatment is readily available.
Creutzfeldt-Jakob disease is characterised by physical deterioration of the brain, dementia and walking difficulties
Most children born with cri du chat syndrome have moderate intellectual disability, with varying degrees of speech delay and some health problems.
When a person has cystic fibrosis their mucus glands secrete very thick sticky mucus which clogs the tiny air passages in the lungs and traps bacteria.
With the support and opportunities available to them today, most people with Down syndrome are able to achieve and participate as valued members of their community.
Dwarfism refers to a group of conditions characterised by shorter than normal skeletal growth.
Eczema can vary in severity, and symptoms may flare up or subside from day to day.
Essential tremor causes involuntary shaking or trembling of particular parts of the body, usually the head and hands, but it is not Parkinson's disease.
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The facts about Fragile X syndrome are complicated, and parents and family members are invited to ask their doctor to refer them to a genetics clinic.
To the casual observer, a person with Friedreich's ataxia may seem to be drunk.
Haemochromatosis (iron overload disorder) tends to be under-diagnosed, partly because its symptoms are similar to those caused by a range of other illnesses.
All children with severe haemophilia are given preventative treatment with infusions of blood products before they have a bleed.
Most men and women are affected by hair loss at some stage in their life.
The earlier that hearing loss is identified in children, the better for the child’s language, learning and overall development.
The symptoms of Huntington's disease usually, but not always, first appear when the person is approaching middle age.
Kabuki syndrome affects males and females equally and there is no cure. It is also known as Niikawa-Kuroki syndrome.
Kennedy's disease is a rare inherited neuromuscular disorder that causes progressive weakening and wasting of the muscles, particularly the arms and legs.
Medullary cystic kidney disease causes the growth of abnormal cysts in the kidneys.
Polycystic kidney disease is a common cause of kidney failure in Australia and equally affects men and women of different ethnic backgrounds.
Klinefelter syndrome is often diagnosed at puberty, when the expected physical changes don't occur.
Leukodystrophy refers to a group of inherited disorders that affect the white matter of the brain, which causes loss of normal brain functions.
You should be investigated for long QT syndrome if you faint for no apparent reason, during or after exercise or emotional excitement.
Some people may not realise they have Marfan syndrome because their features are either mild or not obvious.
The severity of symptoms or how a child with McCune-Albright syndrome will be affected throughout life is difficult to predict.
The symptoms of premature or early menopause are the same as for menopause at any age.
People affected by muscular dystrophy have different degrees of independence, mobility and carer needs.
Neurofibromatosis is caused by faulty genes, which may be inherited or have spontaneously mutated at conception.
Noonan syndrome is a genetic condition that usually includes heart abnormalities and characteristic facial features.
Osteoporosis in children is rare and usually caused by an underlying medical condition.
PKU is an inherited disorder that prevents the normal breakdown of a protein found in some foods.
A feature of Prader-Willi syndrome is the child's excessive appetite, which often leads to obesity.
People with Rett syndrome have a keen desire to communicate.
A child with infantile spinal muscular atrophy rarely lives beyond three years of age.
Tay-Sachs disease is a serious genetic disorder common in Ashkenazi Jews and French-Canadians.
Thalassaemia is an inherited blood disorder that can cause anaemia or death if not treated.
Milder forms of Tourette syndrome can be misdiagnosed, as it often occurs at the same time as attention deficit hyperactivity disorder (ADHD) and other disorders.
Treacher Collins syndrome is a genetic disorder that affects growth and development of the head, causing facial defects and hearing loss.
Tuberous sclerosis is a genetic disorder that affects various parts of the body to varying degrees of severity.
Turner's syndrome is a random genetic disorder that affects females, causing short stature and infertility.
Services aim to help a person with Usher syndrome prepare for the dual loss of sight and hearing.
A person with von Willebrand's disorder may have frequent nosebleeds, heavy menstruation or excessive bleeding from the mouth.
Williams syndrome often goes undiagnosed, which means that some people with the disorder fail to get the support and treatment they need until later in life.
In Wilson's disease, a build-up of copper damages organs including the liver, nervous system, brain, kidneys and eyes.