Search results for: neonatal diseases and defects

Birth defects

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

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.

Long QT syndrome

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

Diethylstilboestrol (DES)

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

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.

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.

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.

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.

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.

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.

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.

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).

Intersex variation

‘Intersex’ refers to physical, hormonal or chromosomal differences that don’t fit the typical male or female body. They occur in about 1 in every 100 births.

Haemochromatosis

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

Congenital adrenal hyperplasia

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

Down syndrome

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

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.

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.

Fragile X syndrome

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

Williams syndrome

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

Cri du chat syndrome

Cri du chat (“cat’s cry”) 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.

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.

Fetal alcohol spectrum disorder

Fetal alcohol spectrum disorder is a name given to a range of conditions. Learn more about FASD and the risks with drinking alcohol during pregnancy.

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.

Colour blindness

Finding it hard to tell red from green, or blue from yellow, is colour blindness. In rare cases, a person can’t see colour at all. 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.

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Search results for: "neonatal diseases and defects"

Life stage

Birth defects

Noonan syndrome

Long QT syndrome

Diethylstilboestrol (DES)

Genetic disorders

Congenital heart disease

Craniosynostosis

Cystic fibrosis (CF)

Genetics of dementia

Aortic coarctation

Spina bifida

Chiari malformation

5 things people with Down syndrome want you to know

Intersex variation

Haemochromatosis

Congenital adrenal hyperplasia

Down syndrome

Fabry disease

Family medical history

Alpha-1 antitrypsin deficiency

Fragile X syndrome

Williams syndrome

Cri du chat syndrome

Apert syndrome

Fetal alcohol spectrum disorder

Guide to genetic disorders

Cleft lip and cleft palate

Von Willebrand disease

Colour blindness

G6PD deficiency

Life stage

Birth defects

Noonan syndrome

Long QT syndrome

Diethylstilboestrol (DES)

Genetic disorders

Congenital heart disease

Craniosynostosis

Cystic fibrosis (CF)

Genetics of dementia

Aortic coarctation

Spina bifida

Chiari malformation

5 things people with Down syndrome want you to know

Intersex variation

Haemochromatosis

Congenital adrenal hyperplasia

Down syndrome

Fabry disease

Family medical history

Alpha-1 antitrypsin deficiency

Fragile X syndrome

Williams syndrome

Cri du chat syndrome

Apert syndrome

Fetal alcohol spectrum disorder

Guide to genetic disorders

Cleft lip and cleft palate

Von Willebrand disease

Colour blindness

G6PD deficiency

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