Birth defects are quite common. Some are minor and cause little, if any, long term problems. Other birth defects can be life threatening or cause significant disability.
Children with Noonan syndrome may have odd facial features, restricted growth and heart defects, but most, with therapy, go on to lead normal lives.
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.
Long QT syndrome
Long QT syndrome (LQTS) is a disorder of the heart's electrical system that can cause fast, chaotic heartbeats, called arrhythmias.
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.
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.
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 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.
‘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.
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.