Search results for: genetic diseases

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.

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.

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 about the condition and treatments to manage the symptoms.

Cystic fibrosis (CF)

Cystic fibrosis is a disease affecting the lungs and digestive system. Learn more about cystic fibrosis (CF), including its symptoms, treatment options and how it's diagnosed.

Turner syndrome

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

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.

Fragile X syndrome

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

Williams syndrome

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

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.

Genetics of dementia

There isn't a single gene that is responsible for most types of dementia. However, some rare types of dementia can be inherited.

Congenital adrenal hyperplasia

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

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.

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.

Cri du chat syndrome

Cri du chat (“cat’s cry”) 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.

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.

Gene therapy

Links to trusted information about gene therapy.

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.

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.

Marfan syndrome

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

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.

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.

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.

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.

Down syndrome

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

Intersex variation

‘Intersex’ refers to physical, hormonal or chromosomal differences that don’t fit the typical male or female body. They occur in about 1 in every 100 births.

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).

Sickle cell anaemia

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

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.

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Search results for: "genetic diseases"

Life stage

Guide to genetic disorders

Family medical history

Fabry disease

Cystic fibrosis (CF)

Turner syndrome

Genetic disorders

Fragile X syndrome

Williams syndrome

Klinefelter syndrome

Genetics of dementia

Congenital adrenal hyperplasia

Apert syndrome

Alpha-1 antitrypsin deficiency

Cri du chat syndrome

G6PD deficiency

Gene therapy

Charcot-Marie-Tooth disease

Tuberous sclerosis

Phenylketonuria

Tourette syndrome

Marfan syndrome

Noonan syndrome

Rett syndrome

Edwards syndrome (Trisomy 18)

Albinism

Down syndrome

Intersex variation

5 things people with Down syndrome want you to know

Sickle cell anaemia

Prader-Willi syndrome

Life stage

Guide to genetic disorders

Family medical history

Fabry disease

Cystic fibrosis (CF)

Turner syndrome

Genetic disorders

Fragile X syndrome

Williams syndrome

Klinefelter syndrome

Genetics of dementia

Congenital adrenal hyperplasia

Apert syndrome

Alpha-1 antitrypsin deficiency

Cri du chat syndrome

G6PD deficiency

Gene therapy

Charcot-Marie-Tooth disease

Tuberous sclerosis

Phenylketonuria

Tourette syndrome

Marfan syndrome

Noonan syndrome

Rett syndrome

Edwards syndrome (Trisomy 18)

Albinism

Down syndrome

Intersex variation

5 things people with Down syndrome want you to know

Sickle cell anaemia

Prader-Willi syndrome

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