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Genetic disorders

Genetic disorders occur when there is a problem with the body’s genes or chromosomes. These chemical compounds pass on what we sometimes inherit from our parents, such as our height or hair colour.

The pages below – arranged from A to Z – tell you about the signs and symptoms of many of the commonest disorders, how they are diagnosed and where to obtain support and more information about genetic disorders.

Partially-sighted skiing paralympian from the Sochi Olympics, Kelly Gallagher

Albinism

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 (CF)

Cystic fibrosis is disability that mostly affects the lungs and digestive system.

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 a deformed 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 blood to absorb too much iron.

Haemochromatosis

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

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.

Neurofibromatosis

Tumours - usually benign - form with this relatively common, manageable condition. Medical care may be needed, but many people lead normal lives.

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.

Thalassaemia

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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Found 44 results

Brain Foundation | Tuberous Sclerosis

Tuberous Sclerosis Description Tuberous Sclerosis is an uncommon andcomplex genetic disorder

Read more on Brain Foundation website

Alport Syndrome

Alport Syndrome is a genetic disorder which causes problems with type IV collagen formation in the body.

Read more on Kidney Health Australia 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

Jeans for Genes Day

Jeans for Genes Day is a national day when people wear their jeans to raise much-needed funds for research into birth defects and diseases such as cancer, epilepsy, and a range of genetic disorders.

Read more on Pregnancy, Birth & Baby 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

Charcot-Marie-Tooth disease (CMT)

Charcot-Marie-Tooth disease (CMT) is an umbrella term for a range of certain inherited genetic disorders that affect the peripheral nervous system. The peripheral nervous system controls our ability to move and feel parts of our body, such as hands and feet. Disorders of the peripheral nerves – the nerves stretching from the spinal cord to the muscles – are known as ‘neuropathies’.

Read more on Better Health Channel website

Genetic testing for hereditary diseases information | myVMC

Genetic testing involves analysing a person's DNA. It can be used to assess their risk of hereditary (genetic) conditions such as cystic fibrosis.

Read more on myVMC – Virtual Medical Centre website

Angelman syndrome

Angelman syndrome is a genetic condition that is present at birth (congenital). It causes intellectual disability and other features. Other characteristics of Angelman syndrome include distinctive facial features, mental retardation, speech problems and hyperactive behaviour. In most cases, the cause is a missing section (deletion) on the mother’s copy of chromosome 15.

Read more on Better Health Channel website

Trisomy disorders

Genes are the blueprint for our bodies. Almost every cell in the body has a copy of the blueprint, stored inside a sac called the nucleus. Genes are beaded along chromosomes, which are tightly bundled strands of the chemical substance deoxyribonucleic acid (DNA). Humans usually have 23 pairs of chromosomes, with two sex chromosomes that decide gender and 44 chromosomes that dictate other factors, such as growth and function.

Read more on Better Health Channel website

Pulmozyme (dornase alfa) information | myVMC

Pulmozyme (dornase alfa) is an enzyme used to help patients suffering from cystic fibrosis (CF), which is a hereditary disease.

Read more on myVMC – Virtual Medical Centre website

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