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Genetic disorders

Partially sighted skiing Paralympian from the Sochi Olympics, Kelly Gallagher


Albinism is a group of genetic conditions. People with albinism have no or very little colour in their hair, skin and eyes so sun protection is vital.

Children with Angelman syndrome often laugh and smile for no apparent reason.

Angelman syndrome

A rare syndrome causing physical and intellectual disability. It can’t be cured, but some therapies can improve the quality of life of those affected....

Ankylosing spondylitis is often genetically inherited

Ankylosing spondylitis

This rare form of arthritis affects the spine’s joints and ligaments and sometimes other joints. There’s no cure, but treatment can ease the symptoms.

Charcot-Marie-Tooth disease affects the nervous system

Charcot-Marie-Tooth disease

This group of genetic conditions affects the nervous system, usually the hand and foot muscles first. It worsens, but some therapies are effective.

Congenital adrenal hyperplasia, or CAH, affects the adrenal glands.

Congenital adrenal hyperplasia

Congenital adrenal hyperplasia affects the hormones. People with the condition will have health problems, but might still enjoy a normal lifestyle.

Cystic fibrosis

Cystic fibrosis is a usually life-shortening disability that affects the lungs and digestive system. Quality of life can be improved with treatment.

Man with Down syndrome having a check-up.

Down syndrome

This syndrome causes learning difficulties, with a greater chance of health problems. Everyone is affected differently.

Duchenne muscular dystrophy, or DMD, is a particular type of muscular wasting caused by a mutation in the DMD gene.

Duchenne muscular dystrophy

DMD, the commonest muscular dystrophy in kids, causes gradual loss of muscle function, affecting everyday activity. Treatment may help daily life.

People with Ehler Danlos Syndrome (EDS) have extremely flexible joints and skin that stretches easily.

Ehlers-Danlos syndrome

People with Ehlers-Danlos have very loose joints and easily bruised or stretchy skin. Symptoms can be managed, but the risk of injury is increased.

Illustration comparing a normal X chromosome (left) to an X chromosome (right) associated with fragile X syndrome.

Fragile X syndrome

Fragile X causes intellectual disability, behavioural and learning difficulties, and physical problems. It’s the commonest genetic cause of autism.

Haemochromatosis is an inherited condition that causes the body to absorb too much iron.


Haemochromatosis causes the body to absorb too much iron, leading to organ damage. Blood tests will diagnose it, and treatments are available.

Haemophilia is a genetic condition that causes abnormal bleeding.


Haemophilia stops blood from clotting properly, causing abnormal bleeding. It’s best managed by a multidisciplinary team of health professionals.

Huntington's disease affects the nervous system.

Huntington’s disease

Huntington's affects the nervous system and worsens over time. Symptoms include difficulty controlling limbs, and cognitive and emotional changes.

Doctor with teenager discussing treatment for Klinefelter syndrome.

Klinefelter syndrome

Affecting males, symptoms can include small genitals and infertility. It's estimated 1 in 500 men have Klinefelter syndrome, but most are unaware.

People with Marfan syndrome are often tall and slim with longer than usual limbs.

Marfan syndrome

This condition affects tissue that strengthens and stabilises joints and muscles. People with Marfan syndrome are often tall and long-limbed.

Neurofibromatosis is characterised by the growth of neurofibromas, a type of tumour that is usually benign.


Tumours - usually benign - form with this quite common, manageable condition. Know more about living with neurofibromatosis and where to get support.

Noonan syndrome can be caused by a genetic mutation in any one of several different genes.

Noonan syndrome

Children with Noonan syndrome may have odd facial features, restricted growth and heart defects, but most, with therapy, go on to lead normal lives.

Overweight child eating cakes.

Prader-Willi syndrome

Adults with Prader-Willi may experience sleeping and breathing problems, and have an insatiable appetite, which can lead to life-threatening obesity.

Repetitive hand movements like clapping is one of the common symptoms of Rett syndrome.

Rett syndrome

Rett syndrome causes intellectual and physical disability. It’s been described relatively recently, so it’s not known how it progresses to middle age.

Tay-Sachs disease is a genetic disorder that leads to the premature death of young children.

Tay-Sachs disease

Babies/children with Tay-Sachs develop slowly, lose vision and speech, and typically don’t reach school age. It’s commoner in certain genetic groups.

Thalassaemia is an inherited blood disease.


This inherited blood disorder prevents someone from making enough healthy haemoglobin to carry oxygen around the body, but it may not need treatment.

Tourette syndrome usually begins during childhood

Tourette syndrome

People with this syndrome make involuntary repetitive sounds and movements. Most don't need treatment, and relaxation exercises may reduce symptoms.

Genetic testing can be used to diagnose turner syndrome.

Turner syndrome

Turner syndrome affects females. It includes sensory, developmental, and hormonal symptoms, but most females have normal intelligence and lifespan.

Measuring the blood clotting time of a patient.

Von Willebrand disease

People with von Willebrand disease have trouble controlling their bleeding because a blood clotting factor is either absent, low or defective.

Williams syndrome is a genetic condition which can cause developmental problems

Williams syndrome

Williams syndrome can cause development, learning and medical problems, although children with it often have well-developed language and music skills.

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Top results

Brain Foundation | Tuberous Sclerosis

Tuberous Sclerosis Description Tuberous Sclerosis is an uncommon andcomplex genetic disorder

Read more on Brain Foundation website

Aicardi syndrome (mental retardation of baby girls) | myVMC

Aicardi syndrome is a rare genetic disorder of the brain that only affects girls. It causes infantile spasms, mental retardation and eye disorders.

Read more on myVMC – Virtual Medical Centre website

Tuberous sclerosis - Better Health Channel

Tuberous sclerosis is a genetic disorder that affects various parts of the body to varying degrees of severity.

Read more on Better Health Channel website

Tuberous Sclerosis Complex - ACD

Tuberous sclerosis complex is a genetic disorder that can affect multiple organs including the skin, brain, kidneys, heart and lungs.

Read more on Australasian College of Dermatologists website

Syndromes without a name: children | Raising Children Network

SWAN means syndromes without a name. Doctors might use the term SWAN when children have symptoms of genetic disorder but the symptoms cant be diagnosed.

Read more on Raising Children Network website

Gaucher's disease information | myVMC

Gaucher disease is a genetic disorder that leads to the build up of fatty deposits in multiple organs, including the spleen, liver, bone marrow and brain.

Read more on myVMC – Virtual Medical Centre website

Prader Willi syndrome | Garvan Institute of Medical Research

Prader-Willi syndrome (PWS) is a rare genetic disorder that causes insatiable appetite, and often leads to morbid obesity. Read about Garvan's genomic research and studies of PWS.

Read more on Garvan Institute of Medical Research website

Brain Foundation | Dysautonomia

Dysautonomia Dysautonomia (Familial Dysautonomia, Riley-Day Syndrome) Description Familial Dysautonomia (also known as Riley-Day Syndrome) is a rare genetic disorder that affects the sensory and autonomic nerve system

Read more on Brain Foundation website

Genetic counsellor | Raising Children Network

If you have a genetic disorder in your family, you might see a genetic counsellor. Read key information about how a genetic counsellor can help you.

Read more on Raising Children Network website

Williams Syndrome

Williams syndrome is a rare genetic disorder. Williams syndrome is characterised by distinctive physical features and behaviours, including a distinctive facial appearance, mild intellectual disability and an overly sociable personality.

Read more on Better Health Channel website

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