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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
Angelman syndrome
The characteristic features of Angelman syndrome are not always obvious at birth but develop during childhood.
Ankylosing spondylitis
Ankylosing spondylitis (AS) is a type of inflammatory arthritis that targets the joints of the spine.
Bipolar disorder
Bipolar disorder is a type of psychosis, which means the person’s perception of reality is altered. It is characterised by extreme mood swings
Birth defects - ambiguous genitalia
The causes of ambiguous genitalia include genetic variations, hormonal imbalances and malformations of the fetal tissues that are supposed to evolve into genitals.
Birth defects - central nervous system
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
Charcot-Marie-Tooth disease is the most common inherited disorder affecting the peripheral nervous system.
Cholesterol - genetic factors
Familial hypercholesterolaemia is an inherited condition characterised by higher than normal levels of blood cholesterol.
Cleft palate and cleft lip
Most cleft palates and cleft lips can be repaired so that appearance and speech develop normally.
Colour blindness
People with colour blindness usually have difficulty with the colours green, yellow, orange and red.
Congenital adrenal hyperplasia
CAH is a fairly uncommon genetic disorder, but it is well understood and treatment is readily available.
Creutzfeldt-Jakob disease (CJD)
Creutzfeldt-Jakob disease is characterised by physical deterioration of the brain, dementia and walking difficulties
Cri du chat syndrome
Most children born with cri du chat syndrome have moderate intellectual disability, with varying degrees of speech delay and some health problems.
Cystic fibrosis
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.
Dementia - frontotemporal dementia with Parkinsonism-17
FTDP is one type of progressively worsening dementia that affects the front and side of the brain.
Down syndrome
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
Dwarfism refers to a group of conditions characterised by shorter than normal skeletal growth.
Eczema (atopic dermatitis)
Eczema can vary in severity, and symptoms may flare up or subside from day to day.
Essential tremor
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.
Fabry disease
This article provides a link to an external website that has more information about this program or topic.
Fragile X syndrome
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.
Friedreich's ataxia
To the casual observer, a person with Friedreich's ataxia may seem to be drunk.
Haemochromatosis
Haemochromatosis (iron overload disorder) tends to be under-diagnosed, partly because its symptoms are similar to those caused by a range of other illnesses.
Haemophilia
All children with severe haemophilia are given preventative treatment with infusions of blood products before they have a bleed.
Hair loss
Most men and women are affected by hair loss at some stage in their life.
Hearing problems in children
The earlier hearing loss is identified in children, the better for the child's language, learning and overall development.
Huntington's disease
The symptoms of Huntington's disease usually, but not always, first appear when the person is approaching middle age.
Huntington's disease - genetics
Children with a parent who has the Huntington's disease gene have a 50 per cent risk of developing the disease.
Kabuki syndrome
Kabuki syndrome affects males and females equally and there is no cure. It is also known as Niikawa-Kuroki syndrome.
Kennedy's disease
Kennedy's disease is a rare inherited neuromuscular disorder that causes progressive weakening and wasting of the muscles, particularly the arms and legs.
Kidneys - medullary cystic kidney disease
Medullary cystic kidney disease causes the growth of abnormal cysts in the kidneys.
Kidneys - polycystic kidney disease (PKD)
Polycystic kidney disease is a common cause of kidney failure in Australia and equally affects men and women of different ethnic backgrounds.
Klinefelter syndrome
Klinefelter syndrome is often diagnosed at puberty, when the expected physical changes don't occur.
Leukodystrophy
Leukodystrophy refers to a group of inherited disorders that affect the white matter of the brain, which causes loss of normal brain functions.
Long QT syndrome
You should be investigated for long QT syndrome if you faint for no apparent reason, during or after exercise or emotional excitement.
Marfan syndrome
Some people may not realise they have Marfan syndrome because their features are either mild or not obvious.
McCune-Albright syndrome
The severity of symptoms or how a child with McCune-Albright syndrome will be affected throughout life is difficult to predict.
Menopause - premature and early menopause
The symptoms of premature or early menopause are the same as for menopause at any age.
Muscular dystrophy
People affected by muscular dystrophy have different degrees of independence, mobility and carer needs.
Muscular dystrophy - Duchenne and Becker
Duchenne and Becker muscular dystrophies lead to similar patterns of muscle weakness.
Neurofibromatosis
Neurofibromatosis is caused by faulty genes, which may be inherited or have spontaneously mutated at conception.
Noonan syndrome
Noonan syndrome is a genetic condition that usually includes heart abnormalities and characteristic facial features.
Osteoporosis in children
Osteoporosis in children is rare and usually caused by an underlying medical condition.
Phenylketonuria (PKU)
PKU is an inherited disorder that prevents the normal breakdown of a protein found in some foods.
Prader-Willi syndrome
A feature of Prader-Willi syndrome is the child's excessive appetite, which often leads to obesity.
Rett syndrome
People with Rett syndrome have a keen desire to communicate.
Spinal muscular atrophy (SMA)
A child with infantile spinal muscular atrophy rarely lives beyond three years of age.
Tay-Sachs disease
Tay-Sachs disease is a serious genetic disorder common in Ashkenazi Jews and French-Canadians.
Thalassaemia
Thalassaemia is an inherited blood disorder that can cause anaemia or death if not treated.
Tourette syndrome
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
Treacher Collins syndrome is a genetic disorder that affects growth and development of the head, causing facial defects and hearing loss.
Tuberous sclerosis complex (TSC)
Tuberous sclerosis is a genetic disorder that affects various parts of the body to varying degrees of severity.
Turner's syndrome
Turner's syndrome is a random genetic disorder that affects females, causing short stature and infertility.
Usher syndrome
Services aim to help a person with Usher syndrome prepare for the dual loss of sight and hearing.
Von Willebrand's disorder
A person with von Willebrand's disorder may have frequent nosebleeds, heavy menstruation or excessive bleeding from the mouth.
Williams syndrome
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.
Wilson's disease
In Wilson's disease, a build-up of copper damages organs including the liver, nervous system, brain, kidneys and eyes.
