Guide to genetic disorders

Genetic issues impact many aspects of health and development. Some affect people from birth, while others develop later in life. Read on for details.

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Growth disorders

Growth disorders are disorders that can cause abnormally fast or slow growth. They can be caused by genes, hormones, or nutrition.

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Connective tissue diseases

Connective tissue diseases can affect many different areas of the body and the immune system, caused by single gene mutations or inflammation. Learn more here.

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Thalassaemia

This inherited blood disorder prevents someone from making enough haemoglobin to carry oxygen around the body. Find out more about the types and symptoms of thalassaemia.

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Cystic fibrosis (CF)

Cystic fibrosis (CF) is a genetic disease that affects your lungs and digestive system. Learn more about what causes CF and how it is treated.

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Tay-Sachs disease

Babies with Tay-Sachs develop slowly, lose vision and speech and typically don't reach school age. It's more common in certain genetic groups.

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Genetic testing

Genetic testing can give you vital information if you're planning a family, or if you or your partner has a genetic disorder.

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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.

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Huntington's disease

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

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Haemochromatosis

Haemochromatosis causes your body to absorb too much iron, leading to organ damage. Read about the symptoms, diagnosis and available treatments.

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Sickle cell anaemia

Sickle cell anaemia is the most common and serious form of sickle cell disease. Read more about sickle cell anaemia and how it is treated.

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Lynch syndrome

Lynch syndrome, formerly known as HNPCC, is a genetic condition that increases the risk of a person developing some cancers, such as bowel cancer.

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Haemophilia

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

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Duchenne muscular dystrophy

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

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Retinitis pigmentosa

Retinitis pigmentosa is a genetic eye disorder that causes vision loss, including night blindness and tunnel vision. Discover the symptoms and causes.

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Brugada syndrome

Brugada syndrome can disrupt your heart rhythm, causing palpitations, fainting or in serious cases, cardiac arrest. Read about symptoms and treatment.

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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.

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Marfan syndrome

Marfan syndrome is a genetic condition that causes a loss of elastic tissue. Find out about the symptoms and treatments for Marfan syndrome.

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Fragile X syndrome

Fragile X syndrome is the most common inherited cause of intellectual disability. It also causes physical, behavioural and emotional difficulties.

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Coeliac disease

People with coeliac disease can't eat foods containing gluten. Find out how coeliac disease can affect your life and why it's important to get diagnosed.

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Noonan syndrome

Children with Noonan syndrome may have unusual facial features, heart and growth problems. With therapy, most will go on to lead normal lives.

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Tuberous sclerosis

Tuberous sclerosis is a rare genetic disease that may affect many parts of your body, behaviour and thinking. There’s no cure, but it can be treated.

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Metabolism

Metabolism refers to all the chemical processes your body uses to produce energy. Find out more about metabolism, what affects it and whether you can boost your metabolism.

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Neurofibromatosis

Neurofibromatosis is a manageable genetic condition characterised by benign tumours. Learn more about its symptoms, diagnosis and treatment options.

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Phenylketonuria

Phenylketonuria (PKU) is an inherited problem with breaking down protein. With the right diet, people with PKU can live a normal life. Learn about diagnosis and the PKU diet.

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Motor neurone disease (MND)

Motor neurone disease is a condition that causes weakness in the muscles, leading eventually to paralysis. Learn about the symptoms and diagnosis.

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Spinal muscular atrophy (SMA)

Spinal muscular atrophy (SMA) is a genetic disease that causes your muscles to become weaker. Learn more about the 5 different types of SMA.

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Long QT syndrome

Long QT syndrome (LQTS) is a disorder of the heart's electrical system that can cause fast, chaotic heartbeats, called arrhythmias.

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Apert syndrome

Apert syndrome is a rare genetic disorder that causes changes to the shape of the skull. Learn more about the other signs of Apert syndrome.

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Ehlers-Danlos syndrome

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

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