Search results for: neonatal%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.

Milia

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

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.

UpBeat is an app for teenagers with heart conditions (15 to 19 years) who are starting to manage their lives and health care more independently. It is a tool that helps young people with childhood heart disease (CHD) to engage with the health care transition process (moving from paediatric to adult care) and the self-management of their condition.

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.

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.

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

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

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.

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.

Tourette syndrome

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

Apert syndrome

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.

Down syndrome

Down syndrome is caused by trisomy 21. People with Down syndrome are affected differently. It causes learning difficulties, and some health problems.

Marfan syndrome

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

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.

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.

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).

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.

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.

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.

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.

Huntington's disease

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

Congenital heart disease

Congenital heart disease is a birth defect caused when your heart hasn't formed properly. It varies in severity from uncomplicated to serious.

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.

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.

Sickle cell anaemia

Sickle cell anaemia is the most common and serious form of sickle cell disease. Read more about sickle cell anaemia and how it is treated.

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.

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 your lungs and digestive system. Learn more about what causes CF and how it is treated.

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Search results for: "neonatal%20diseases"

Life stage

Genetic disorders

Milia

Down Syndrome Good Health App

Down Syndrome Health Record App

UpBeat app

Phenylketonuria

Umbilical hernia

Alpha-1 antitrypsin deficiency

Craniosynostosis

Turner syndrome

Edwards syndrome (Trisomy 18)

Tourette syndrome

Apert syndrome

Down syndrome

Marfan syndrome

Cri du chat syndrome

Supporting Red Nose Day saves little lives

5 things people with Down syndrome want you to know

Angelman syndrome

Albinism

Rett syndrome

Umbilical hernia repair (child)

Huntington's disease

Congenital heart disease

Fabry disease

Charcot-Marie-Tooth disease

Sickle cell anaemia

Family medical history

Spinal muscular atrophy (SMA)

Cystic fibrosis (CF)

Life stage

Genetic disorders

Milia

Down Syndrome Good Health App

Down Syndrome Health Record App

UpBeat app

Phenylketonuria

Umbilical hernia

Alpha-1 antitrypsin deficiency

Craniosynostosis

Turner syndrome

Edwards syndrome (Trisomy 18)

Tourette syndrome

Apert syndrome

Down syndrome

Marfan syndrome

Cri du chat syndrome

Supporting Red Nose Day saves little lives

5 things people with Down syndrome want you to know

Angelman syndrome

Albinism

Rett syndrome

Umbilical hernia repair (child)

Huntington's disease

Congenital heart disease

Fabry disease

Charcot-Marie-Tooth disease

Sickle cell anaemia

Family medical history

Spinal muscular atrophy (SMA)

Cystic fibrosis (CF)

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