Search results for: neonatal diseases and defects

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.

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.

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.

Congenital heart disease is a birth defect, occurring when a baby is born with a heart that hasn’t formed properly. Some forms of the condition are uncomplicated; others can be very serious. Learn about the differences here.

Long QT syndrome

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

UpBeat app

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.

Spina bifida

Spina bifida is a birth defect that affects a baby’s spine from early pregnancy. Ensuring enough folate in the diet is the best way to reduce the risk of spina bifida.

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.

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.

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).

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.

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.

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.

What is a congenital disorder?

Congenital disorder, also known as congenital disease or birth defects, are conditions present from birth. Find out more about congenital disorders.

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.

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.

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.

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.

Down syndrome

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

Guide to genetic disorders

Problems with genes can cause health or development problems. Some genetic disorders affect people from birth, others develop later in life. Learn more from a trusted source.

Cleft lip and cleft palate

Cleft lip or palate develops when parts of the lip, upper jaw or roof of the mouth don’t join properly early on in pregnancy, resulting in an opening or cleft.

Von Willebrand disease

People with von Willebrand disease have trouble controlling their bleeding because a blood clotting factor is either absent, low or defective.

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.

Huntington's disease

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

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.

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. Learn more here.

G6PD deficiency

G6PD deficiency, sometimes called 'favism', is a genetic disorder that causes red blood cells to break down when exposed to triggers. People with G6PD deficiency can live a healthy life.

Klinefelter (XXY) syndrome

Klinefelter (XXY) syndrome symptoms includes small genitals and infertility. Around 1 in 500 males have Klinefelter syndrome, but most are unaware.

Intersex variation

‘Intersex’ refers to physical, hormonal or chromosomal differences that don’t fit the typical male or female body. They occur in about 17 in every 1,000 live births (or 1.7%).

Healthdirect Free Australian health advice you can count on.

Search results for: "neonatal diseases and defects"

Life stage

Noonan syndrome

Genetic disorders

Craniosynostosis

Congenital heart disease

Long QT syndrome

UpBeat app

Spina bifida

Edwards syndrome (Trisomy 18)

Cri du chat syndrome

5 things people with Down syndrome want you to know

Chiari malformation

Aortic coarctation

Cystic fibrosis (CF)

What is a congenital disorder?

Charcot-Marie-Tooth disease

Alpha-1 antitrypsin deficiency

Turner syndrome

Apert syndrome

Prader-Willi syndrome

Down syndrome

Guide to genetic disorders

Cleft lip and cleft palate

Von Willebrand disease

Fabry disease

Huntington's disease

Family medical history

Lynch syndrome

G6PD deficiency

Klinefelter (XXY) syndrome

Intersex variation

Life stage

Noonan syndrome

Genetic disorders

Craniosynostosis

Congenital heart disease

Long QT syndrome

UpBeat app

Spina bifida

Edwards syndrome (Trisomy 18)

Cri du chat syndrome

5 things people with Down syndrome want you to know

Chiari malformation

Aortic coarctation

Cystic fibrosis (CF)

What is a congenital disorder?

Charcot-Marie-Tooth disease

Alpha-1 antitrypsin deficiency

Turner syndrome

Apert syndrome

Prader-Willi syndrome

Down syndrome

Guide to genetic disorders

Cleft lip and cleft palate

Von Willebrand disease

Fabry disease

Huntington's disease

Family medical history

Lynch syndrome

G6PD deficiency

Klinefelter (XXY) syndrome

Intersex variation

Healthdirect 24hr 7 days a week hotline

Government Accredited with over 140 information partners