Search results for: genetic diseases

Genetic disorders

Browse our index of articles on genetic disorders to learn about a specific condition. Information includes signs and symptoms of the condition, how it is diagnosed and where to go for support.

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.

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.

Apert syndrome is a rare condition that causes an abnormally shaped skull and fused fingers and toes. Other body parts and organs are also affected. Surgery and other treatments can, however, help development.

G6PD deficiency

G6PD deficiency, sometimes called 'favism', is a genetic disorder that causes red blood cells to break down when exposed to triggers. People with G6PD deficiency can live a healthy life.

Fabry disease

Fabry disease is a rare genetic disorder that can affect many parts of the body and lead to many different types of symptom. Learn more here.

Cystic fibrosis (CF)

Cystic fibrosis (CF) is a disease affecting the lungs and digestive system. Treatments can improve the quality of life for people living with CF.

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.

Turner syndrome

This genetic disorder involves sensory, developmental and hormonal symptoms, but most girls and women with Turner syndrome enjoy a normal life.

Edwards syndrome (Trisomy 18)

Edwards syndrome, also called Trisomy 18, is a genetic disorder in babies that causes severe disability. It is caused by an extra copy of chromosome 18.

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.

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.

Craniosynostosis

Craniosynostosis is a birth defect in which the seams (sutures) between the bones in a newborn baby's skull close too early. It can be treated.

Cri du chat syndrome

Cri du chat (Cry of the cat) syndrome is a rare genetic disorder that causes delayed physical development, a small head size and intellectual disability. Learn more here, including why the condition has this name.

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. Learn more here.

Family medical history

Knowing your family medical history is important. It can guide you in making changes that will reduce your risk of developing a hereditary condition.

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.

Huntington's disease

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

Gene therapy

Links to trusted information about gene therapy.

Tuberous sclerosis

Tuberous sclerosis affects parts of the body, behaviour and thinking. If you notice symptoms you should see a doctor, but there are ways to manage the disease.

Phenylketonuria

Links to information about phenylketonuria (PKU), an inherited disorder that increases levels of an amino acid in the blood called phenylalanine.

Tourette syndrome

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

Down syndrome

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

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.

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.

Marfan syndrome

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

5 things people with Down syndrome want you to know

About 1 in every 1,100 babies born has Down syndrome — and most will enjoy a long, healthy life. Here's what you need to know about Down syndrome (Trisomy 21).

Trichotillomania

Trichotillomania is a psychiatric disorder that compels people to pull out their hair. Lasting for several months or many years, it can fluctuate in severity.

Sickle cell anaemia

Sickle cell anaemia is the most common and serious form of sickle cell disease, in which the body produces too many unstable red blood cells.

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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Search results for: "genetic diseases"

Life stage

Genetic disorders

Guide to genetic disorders

Alpha-1 antitrypsin deficiency

Apert syndrome

G6PD deficiency

Fabry disease

Cystic fibrosis (CF)

Charcot-Marie-Tooth disease

Turner syndrome

Edwards syndrome (Trisomy 18)

Klinefelter syndrome

Prader-Willi syndrome

Craniosynostosis

Cri du chat syndrome

Lynch syndrome

Family medical history

Genetic testing

Huntington's disease

Gene therapy

Tuberous sclerosis

Phenylketonuria

Tourette syndrome

Down syndrome

Albinism

Noonan syndrome

Marfan syndrome

5 things people with Down syndrome want you to know

Trichotillomania

Sickle cell anaemia

Williams syndrome

Life stage

Genetic disorders

Guide to genetic disorders

Alpha-1 antitrypsin deficiency

Apert syndrome

G6PD deficiency

Fabry disease

Cystic fibrosis (CF)

Charcot-Marie-Tooth disease

Turner syndrome

Edwards syndrome (Trisomy 18)

Klinefelter syndrome

Prader-Willi syndrome

Craniosynostosis

Cri du chat syndrome

Lynch syndrome

Family medical history

Genetic testing

Huntington's disease

Gene therapy

Tuberous sclerosis

Phenylketonuria

Tourette syndrome

Down syndrome

Albinism

Noonan syndrome

Marfan syndrome

5 things people with Down syndrome want you to know

Trichotillomania

Sickle cell anaemia

Williams syndrome

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