Search results for: neonatal diseases

Phenylketonuria

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

Fetal diseases

Information about foetal diseases from leading Australian health organisations.

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.

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.

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.

Diethylstilboestrol (DES)

Follow the links below to find out more about diethylstilboestrol (DES), a synthetic form of oestrogen.

Birth defects

Trusted information about birth defects from leading Australian health organisations, including links to content on spina bifida and amniocentesis.

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.

Long QT syndrome

Long QT syndrome (LQTS) is a disorder of the heart's electrical system that can cause fast, chaotic heartbeats, called arrhythmias.

Turner syndrome

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

Congenital adrenal hyperplasia

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

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.

Down syndrome

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

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.

Umbilical hernia repair (child)

An umbilical hernia is caused by a weakness in the layer of muscle of the abdominal wall, just behind the belly button. This can be repaired by surgery.

Umbilical hernia

An umbilical hernia occurs when the muscles around the belly button are weak or have a gap in them. Find out more about umbilical hernia.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

Williams syndrome

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

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.

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Search results for: "neonatal diseases"

Life stage

Phenylketonuria

Fetal diseases

Genetic disorders

Cystic fibrosis (CF)

Genetics of dementia

Diethylstilboestrol (DES)

Birth defects

Edwards syndrome (Trisomy 18)

Long QT syndrome

Turner syndrome

Congenital adrenal hyperplasia

Tourette syndrome

Marfan syndrome

Down syndrome

Noonan syndrome

Umbilical hernia repair (child)

Umbilical hernia

Rett syndrome

Albinism

Fabry disease

Family medical history

Charcot-Marie-Tooth disease

Alpha-1 antitrypsin deficiency

Sickle cell anaemia

Tuberous sclerosis

Craniosynostosis

Klinefelter syndrome

Trichotillomania

Williams syndrome

Apert syndrome

Life stage

Phenylketonuria

Fetal diseases

Genetic disorders

Cystic fibrosis (CF)

Genetics of dementia

Diethylstilboestrol (DES)

Birth defects

Edwards syndrome (Trisomy 18)

Long QT syndrome

Turner syndrome

Congenital adrenal hyperplasia

Tourette syndrome

Marfan syndrome

Down syndrome

Noonan syndrome

Umbilical hernia repair (child)

Umbilical hernia

Rett syndrome

Albinism

Fabry disease

Family medical history

Charcot-Marie-Tooth disease

Alpha-1 antitrypsin deficiency

Sickle cell anaemia

Tuberous sclerosis

Craniosynostosis

Klinefelter syndrome

Trichotillomania

Williams syndrome

Apert syndrome

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