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.

Apert syndrome

Apert syndrome is a rare genetic disorder that causes changes to the shape of the skull. Learn more about the other signs of Apert syndrome.

Guide to genetic disorders

Genetic issues impact many aspects of health and development. Some affect people from birth, while others develop later in life. Read on for details.

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.

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.

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.

Cystic fibrosis (CF)

Cystic fibrosis (CF) is a genetic disease that affects many body organs, including lungs and digestive system. Learn about CF symptoms and treatments.

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.

Alpha-1 antitrypsin deficiency (AATD)

Alpha-1 antitrypsin deficiency (AATD) is a genetic condition that can cause lung and liver disease. Learn more about AATD symptoms and treatments.

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.

Klinefelter (XXY) syndrome

Klinefelter (XXY) syndrome symptoms includes small genitals and infertility. Around 1 in 1000 males have Klinefelter syndrome, but most are unaware.

Craniosynostosis

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

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.

Cri du chat syndrome

Cri du chat syndrome is a rare genetic disorder that causes a weak, high-pitched cry. Learn more about the symptoms of cri du chat syndrome here.

Huntington's disease

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

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.

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.

Marfan syndrome

Marfan syndrome is a genetic condition that causes a loss of elastic tissue. Find out about the symptoms and treatments for Marfan syndrome.

What is a congenital disorder?

Congenital disorders are health conditions that are present from birth. They are also called birth differences, congenital anomalies or birth defects.

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.

Keratoconus

Keratoconus is an eye condition which where the cornea thins and bulges outward into a cone shape, causing vision loss.

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.

Neurofibromatosis

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

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.

Down syndrome

Down syndrome is caused by an extra chromosome 21. Down syndrome affects people differently. It causes learning difficulties and health problems.

Intersex variation

Intersex variations are caused by physical, hormonal or chromosomal differences. Learn more about intersex variation and what causes it here.

Phenylketonuria

Phenylketonuria (PKU) is an inherited problem with breaking down protein. With diagnosis and the right diet, people with PKU can live a normal life.

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Search results for: "genetic diseases"

Life stage

Genetic disorders

Apert syndrome

Guide to genetic disorders

G6PD deficiency

Fabry disease

Spinal muscular atrophy (SMA)

Cystic fibrosis (CF)

Edwards syndrome (Trisomy 18)

Charcot-Marie-Tooth disease

Turner syndrome

Alpha-1 antitrypsin deficiency (AATD)

Prader-Willi syndrome

Klinefelter (XXY) syndrome

Craniosynostosis

Lynch syndrome

Cri du chat syndrome

Huntington's disease

Tuberous sclerosis

Down Syndrome Good Health App

Down Syndrome Health Record App

Marfan syndrome

What is a congenital disorder?

Porphyria

Keratoconus

Albinism

Neurofibromatosis

Rett syndrome

Down syndrome

Intersex variation

Phenylketonuria

Life stage

Genetic disorders

Apert syndrome

Guide to genetic disorders

G6PD deficiency

Fabry disease

Spinal muscular atrophy (SMA)

Cystic fibrosis (CF)

Edwards syndrome (Trisomy 18)

Charcot-Marie-Tooth disease

Turner syndrome

Alpha-1 antitrypsin deficiency (AATD)

Prader-Willi syndrome

Klinefelter (XXY) syndrome

Craniosynostosis

Lynch syndrome

Cri du chat syndrome

Huntington's disease

Tuberous sclerosis

Down Syndrome Good Health App

Down Syndrome Health Record App

Marfan syndrome

What is a congenital disorder?

Porphyria

Keratoconus

Albinism

Neurofibromatosis

Rett syndrome

Down syndrome

Intersex variation

Phenylketonuria

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