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.

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.

Birth defects

Birth defects are quite common. Some are minor and cause little, if any, long term problems. Other birth defects can be life threatening or cause significant disability.

Long QT syndrome

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

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.

Turner syndrome

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

Tourette syndrome

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

Down syndrome

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

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

Marfan syndrome

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

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.

Williams syndrome

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

Fragile X syndrome

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

Supporting Red Nose Day saves little lives

Every day in Australia, 9 infants or children die suddenly and unexpectedly. The aim of Red Nose Day is to reduce this number to zero. Here's how you can help.

Aortic coarctation

This is a heart condition in which a section of the aorta, an important blood vessel, is narrowed. Aortic coarctation mainly affects newborn babies.

Chiari malformation

Chiari (or Arnold-Chiari) malformation occurs when part of the brain pushes down into the spinal canal. Some, but not all people have symptoms. Learn more here.

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Search results for: "neonatal diseases"

Life stage

Phenylketonuria

Fetal diseases

Genetic disorders

Edwards syndrome (Trisomy 18)

Birth defects

Long QT syndrome

Cystic fibrosis (CF)

Turner syndrome

Tourette syndrome

Down syndrome

Umbilical hernia

Albinism

Noonan syndrome

Charcot-Marie-Tooth disease

Alpha-1 antitrypsin deficiency

Craniosynostosis

Sickle cell anaemia

Tuberous sclerosis

Klinefelter syndrome

Prader-Willi syndrome

Apert syndrome

Trichotillomania

Cri du chat syndrome

Marfan syndrome

Angelman syndrome

Williams syndrome

Fragile X syndrome

Supporting Red Nose Day saves little lives

Aortic coarctation

Chiari malformation

Life stage

Phenylketonuria

Fetal diseases

Genetic disorders

Edwards syndrome (Trisomy 18)

Birth defects

Long QT syndrome

Cystic fibrosis (CF)

Turner syndrome

Tourette syndrome

Down syndrome

Umbilical hernia

Albinism

Noonan syndrome

Charcot-Marie-Tooth disease

Alpha-1 antitrypsin deficiency

Craniosynostosis

Sickle cell anaemia

Tuberous sclerosis

Klinefelter syndrome

Prader-Willi syndrome

Apert syndrome

Trichotillomania

Cri du chat syndrome

Marfan syndrome

Angelman syndrome

Williams syndrome

Fragile X syndrome

Supporting Red Nose Day saves little lives

Aortic coarctation

Chiari malformation

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