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.

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.

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.

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.

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.

Turner syndrome

Turner syndrome is a genetic disorder caused by a missing or partially missing X chromosome. Find out more about its symptoms and treatments here.

Klinefelter (XXY) syndrome

Klinefelter (XXY) syndrome symptoms includes small genitals and infertility. Around 1 in 500 males have Klinefelter syndrome, but most are unaware.

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.

Huntington's disease

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

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.

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.

Gene therapy

Links to trusted information about gene therapy.

Tourette syndrome

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

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.

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.

Acoustic neuroma

An acoustic neuroma is a benign tumour that grows in the acoustic or eighth cranial nerve. Learn how it affects hearing, balance and other functions.

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).

Marfan syndrome

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

Down syndrome

Down syndrome is caused by trisomy 21. People with Down syndrome are affected differently. It causes learning difficulties, and some health problems.

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.

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.

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.

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Search results for: "genetic diseases"

Life stage

Genetic disorders

Guide to genetic disorders

Apert syndrome

Alpha-1 antitrypsin deficiency

G6PD deficiency

Fabry disease

Cystic fibrosis (CF)

Charcot-Marie-Tooth disease

Edwards syndrome (Trisomy 18)

Prader-Willi syndrome

Turner syndrome

Klinefelter (XXY) syndrome

Craniosynostosis

Cri du chat syndrome

Lynch syndrome

Huntington's disease

Family medical history

Tuberous sclerosis

Gene therapy

Tourette syndrome

Noonan syndrome

Albinism

Acoustic neuroma

5 things people with Down syndrome want you to know

Marfan syndrome

Down syndrome

Phenylketonuria

Angelman syndrome

Fragile X syndrome

Williams syndrome

Life stage

Genetic disorders

Guide to genetic disorders

Apert syndrome

Alpha-1 antitrypsin deficiency

G6PD deficiency

Fabry disease

Cystic fibrosis (CF)

Charcot-Marie-Tooth disease

Edwards syndrome (Trisomy 18)

Prader-Willi syndrome

Turner syndrome

Klinefelter (XXY) syndrome

Craniosynostosis

Cri du chat syndrome

Lynch syndrome

Huntington's disease

Family medical history

Tuberous sclerosis

Gene therapy

Tourette syndrome

Noonan syndrome

Albinism

Acoustic neuroma

5 things people with Down syndrome want you to know

Marfan syndrome

Down syndrome

Phenylketonuria

Angelman syndrome

Fragile X syndrome

Williams syndrome

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