Search results for: neonatal diseases and defects

Birth defects

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.

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.

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 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.

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.

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%).

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).

Turner syndrome

This genetic disorder involves sensory, developmental and hormonal symptoms, but most girls and women with Turner syndrome enjoy a normal life.

Down syndrome

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

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.

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.

Klinefelter syndrome

Affecting males, symptoms can include small genitals and infertility. It's estimated 1 in 500 men have Klinefelter syndrome, but most are unaware.

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.

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.

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.

Hip dysplasia

Hip dysplasia is usually detected in babies, but adolescents and adults may also experience symptoms. Find out more about the disorder here.

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.

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.

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.

Huntington's disease

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

Von Willebrand disease

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

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.

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Search results for: "neonatal diseases and defects"

Life stage

Birth defects

Noonan syndrome

Genetic disorders

Craniosynostosis

Long QT syndrome

Congenital heart disease

Aortic coarctation

Spina bifida

Chiari malformation

Intersex variation

Edwards syndrome (Trisomy 18)

Cri du chat syndrome

5 things people with Down syndrome want you to know

Turner syndrome

Down syndrome

Cystic fibrosis (CF)

Charcot-Marie-Tooth disease

Alpha-1 antitrypsin deficiency

Klinefelter syndrome

Prader-Willi syndrome

Apert syndrome

Guide to genetic disorders

Hip dysplasia

Cleft lip and cleft palate

Colour blindness

Fabry disease

Huntington's disease

Von Willebrand disease

Family medical history

Lynch syndrome

Life stage

Birth defects

Noonan syndrome

Genetic disorders

Craniosynostosis

Long QT syndrome

Congenital heart disease

Aortic coarctation

Spina bifida

Chiari malformation

Intersex variation

Edwards syndrome (Trisomy 18)

Cri du chat syndrome

5 things people with Down syndrome want you to know

Turner syndrome

Down syndrome

Cystic fibrosis (CF)

Charcot-Marie-Tooth disease

Alpha-1 antitrypsin deficiency

Klinefelter syndrome

Prader-Willi syndrome

Apert syndrome

Guide to genetic disorders

Hip dysplasia

Cleft lip and cleft palate

Colour blindness

Fabry disease

Huntington's disease

Von Willebrand disease

Family medical history

Lynch syndrome

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