Search results for: neonatal diseases

Friedreich's ataxia

Links to trusted information about Friedreich's ataxia.

Fetal diseases

Trusted information about fetal diseases from leading Australian health organisations, including links to fetal alcohol syndrome and fetal alcohol spectrum disorder.

Phenylketonuria

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

Urogenital defects

Trusted information about urogenital defects from leading Australian health organisations, including links to content on screening tests and cosmetic surgery.

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.

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.

Spina bifida

Links to trusted information about spina bifida.

Long QT syndrome

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

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.

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

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

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.

Haemochromatosis

Haemochromatosis causes the body to absorb too much iron, leading to organ damage. Blood tests will diagnose it, and treatments are available.

Neurofibromatosis

Tumours - usually benign - form with this quite common, manageable condition. Know more about living with neurofibromatosis and where to get support.

Tourette syndrome

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

Milia

Milia are tiny, white lumps that can appear on the faces of newborn babies, young children and adults. learn more about different types and treatments.

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.

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.

Paraumbilical and umbilical hernia repair

Paraumbilical and umbilical hernias are lumps caused by the contents of the abdomen pushing the around the belly button (umbilicus). Surgery may be needed to prevent complications from a 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.

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.

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.

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.

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.

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: "neonatal diseases"

Life stage

Friedreich's ataxia

Fetal diseases

Phenylketonuria

Urogenital defects

Cystic fibrosis (CF)

Genetic disorders

Spina bifida

Long QT syndrome

Umbilical hernia

Edwards syndrome (Trisomy 18)

Birth defects

Genetics of dementia

Haemochromatosis

Neurofibromatosis

Tourette syndrome

Milia

Down syndrome

Noonan syndrome

Marfan syndrome

Angelman syndrome

Paraumbilical and umbilical hernia repair

Rett syndrome

Albinism

Umbilical hernia repair (child)

Charcot-Marie-Tooth disease

Family medical history

Alpha-1 antitrypsin deficiency

Sickle cell anaemia

Tuberous sclerosis

Williams syndrome

Life stage

Friedreich's ataxia

Fetal diseases

Phenylketonuria

Urogenital defects

Cystic fibrosis (CF)

Genetic disorders

Spina bifida

Long QT syndrome

Umbilical hernia

Edwards syndrome (Trisomy 18)

Birth defects

Genetics of dementia

Haemochromatosis

Neurofibromatosis

Tourette syndrome

Milia

Down syndrome

Noonan syndrome

Marfan syndrome

Angelman syndrome

Paraumbilical and umbilical hernia repair

Rett syndrome

Albinism

Umbilical hernia repair (child)

Charcot-Marie-Tooth disease

Family medical history

Alpha-1 antitrypsin deficiency

Sickle cell anaemia

Tuberous sclerosis

Williams syndrome

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