Search results for: genetic%20diseases

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.

Fabry disease

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

G6PD deficiency

G6PD deficiency or 'favism' is a genetic disorder. It leads to red blood cell breakdown upon exposure to certain triggers, but can be managed.

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.

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.

Edwards syndrome (Trisomy 18)

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

Charcot-Marie-Tooth disease

Charcot-Marie-Tooth (CMT) disease affects your nervous system. It’s a progressive disease, but some therapies can help with your CMT symptoms.

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.

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.

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.

Craniosynostosis

Read about craniosynostosis — when the seams between the bones in your baby's skull close too early, causing an abnormal head shape.

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.

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.

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.

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.

Down Syndrome Good Health App

Supports adults with Down syndrome to keep a diary of their meals, water intake, exercise and daily activities

Down Syndrome Health Record App

Health record app is for parents and support people of children with Down syndrome that assists them to record and monitor their child’s health, growth and development.

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.

Tourette syndrome

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

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).

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.

Marfan syndrome

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

Porphyria

Porphyria is caused by problems with red blood cells. It has a wide range of symptoms making it hard to diagnose. Learn how it's managed and treated.

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.

Neurofibromatosis

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

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Search results for: "genetic%20diseases"

Life stage

Genetic disorders

Guide to genetic disorders

Apert syndrome

Fabry disease

G6PD deficiency

Cystic fibrosis (CF)

Spinal muscular atrophy (SMA)

Edwards syndrome (Trisomy 18)

Charcot-Marie-Tooth disease

Turner syndrome

Klinefelter (XXY) syndrome

Prader-Willi syndrome

Cri du chat syndrome

Craniosynostosis

Alpha-1 antitrypsin deficiency

Huntington's disease

Family medical history

Lynch syndrome

Tuberous sclerosis

Gene therapy

Down Syndrome Good Health App

Down Syndrome Health Record App

Acoustic neuroma

Tourette syndrome

5 things people with Down syndrome want you to know

Phenylketonuria

Marfan syndrome

Porphyria

Angelman syndrome

Neurofibromatosis

Life stage

Genetic disorders

Guide to genetic disorders

Apert syndrome

Fabry disease

G6PD deficiency

Cystic fibrosis (CF)

Spinal muscular atrophy (SMA)

Edwards syndrome (Trisomy 18)

Charcot-Marie-Tooth disease

Turner syndrome

Klinefelter (XXY) syndrome

Prader-Willi syndrome

Cri du chat syndrome

Craniosynostosis

Alpha-1 antitrypsin deficiency

Huntington's disease

Family medical history

Lynch syndrome

Tuberous sclerosis

Gene therapy

Down Syndrome Good Health App

Down Syndrome Health Record App

Acoustic neuroma

Tourette syndrome

5 things people with Down syndrome want you to know

Phenylketonuria

Marfan syndrome

Porphyria

Angelman syndrome

Neurofibromatosis

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