Trusted information about birth defects from leading Australian health organisations, including links to content on spina bifida and amniocentesis.
Congenital heart disease
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.
Congenital heart defects
Trusted information about congenital heart defects from leading Australian health organisations, including links to atrial septal defect.
Trusted information about urogenital defects from leading Australian health organisations, including links to content on screening tests and cosmetic surgery.
Long QT syndrome
Long QT syndrome (LQTS) is a disorder of the heart's electrical system that can cause fast, chaotic heartbeats, called arrhythmias.
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.
Children with Noonan syndrome may have odd facial features, restricted growth and heart defects, but most, with therapy, go on to lead normal lives.
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.
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.
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.