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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Guide to genetic disorders

Problems with genes can cause health or development problems. Some genetic disorders affect people from birth, others develop later in life. Learn more from a trusted source.

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Thalassaemia

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

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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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Alpha-1 antitrypsin deficiency

Alpha-1 antitrypsin deficiency (AATD) is a common, inherited genetic condition that can cause chronic lung and liver disease. Treatment can slow down the progress of the disease. Learn more here.

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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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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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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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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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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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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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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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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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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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Marfan syndrome

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

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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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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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Emphysema

Emphysema is a progressive lung disease often due to smoking, causing shortness of breath and coughing. Read about symptoms and treatments.

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Prader-Willi syndrome

Prader-Willi syndrome (PWS) is a rare genetic condition that can cause an limitless appetite. Read more about the symptoms and treatments.

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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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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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