Search results for: neonatal diseases and defects

What is a congenital disorder?

Congenital disorders are health conditions that are present from birth. They are also called birth differences, congenital anomalies or birth defects.

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.

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.

Congenital heart disease

Congenital heart disease happens when the heart doesn't develop properly before birth. There are different types and can range from mild to severe.

Spina bifida

Spina bifida is a birth defect that affects a baby's spine from early pregnancy. Having enough folate in your diet lowers your baby's risk.

Aortic coarctation

Find out about aortic coarctation — a heart condition in which a section of the aorta, the main blood vessel from your heart, is narrowed.

Cri du chat syndrome

Cri du chat syndrome is a rare genetic disorder that causes a weak, high-pitched cry. Learn more about the symptoms of cri du chat syndrome here.

Chiari malformation

Chiari (or Arnold-Chiari) malformation occurs when part of the brain pushes into your spinal canal. Learn more about the symptoms and treatments here.

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.

Long QT syndrome

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

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.

Cleft lip and cleft palate

Cleft lip or palate happens when parts of the lip, upper jaw or roof of the mouth don't join properly early in pregnancy.

Edwards syndrome (Trisomy 18)

Edwards syndrome, also called Trisomy 18, is a genetic disorder that causes severe disability. It is caused by an extra copy of chromosome 18.

Guide to genetic disorders

Genetic issues impact many aspects of health and development. Some affect people from birth, while others develop later in life. Read on for details.

Fabry disease

Fabry disease is a rare genetic disorder that can affect many parts of the body and lead to many different types of symptoms. Learn more here.

Charcot-Marie-Tooth disease

Charcot-Marie-Tooth (CMT) disease affects your nervous system. It’s a progressive disease, but some therapies can help with your CMT symptoms.

Alpha-1 antitrypsin deficiency (AATD)

Alpha-1 antitrypsin deficiency (AATD) is a genetic condition that can cause lung and liver disease. Learn more about AATD symptoms and treatments.

Craniosynostosis

Read about craniosynostosis — when the seams between the bones in your baby's skull close too early, causing an abnormal head shape.

G6PD deficiency

G6PD deficiency or 'favism' is a genetic disorder. It leads to red blood cell breakdown upon exposure to certain triggers, but can be managed.

Down syndrome

Down syndrome is caused by an extra chromosome 21. Down syndrome affects people differently. It causes learning difficulties and health problems.

Apert syndrome

Apert syndrome is a rare genetic disorder that causes changes to the shape of the skull. Learn more about the other signs of Apert syndrome.

Prader-Willi syndrome

Prader-Willi syndrome (PWS) is a rare genetic condition that can cause an limitless appetite. Read more about the symptoms and treatments.

Von Willebrand disease

Von Willebrand disease is a genetic bleeding disorder where people have a blood clotting factor is either absent, low or defective.

Noonan syndrome

Children with Noonan syndrome may have unusual facial features, heart and growth problems. With therapy, most will go on to lead normal lives.

Intersex variation

Intersex variations are caused by physical, hormonal or chromosomal differences. Learn more about intersex variation and what causes it here.

Hip dysplasia

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

Colour blindness

If you are colour blind, you may find it hard to tell red from green, or blue from yellow. Find out more about colour vision testing.

Huntington's disease

Huntington's disease affects your nervous system and worsens over time. Symptoms include difficulty with limb control and changes to how you think.

Spinal muscular atrophy (SMA)

Spinal muscular atrophy (SMA) is a genetic disease that causes your muscles to become weaker. Learn more about the 5 different types of SMA.

Cystic fibrosis (CF)

Cystic fibrosis (CF) is a genetic disease that affects many body organs, including lungs and digestive system. Learn about CF symptoms and treatments.

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Search results for: "neonatal diseases and defects"

Life stage

What is a congenital disorder?

Genetic disorders

UpBeat app

Congenital heart disease

Spina bifida

Aortic coarctation

Cri du chat syndrome

Chiari malformation

Lynch syndrome

Long QT syndrome

Turner syndrome

Cleft lip and cleft palate

Edwards syndrome (Trisomy 18)

Guide to genetic disorders

Fabry disease

Charcot-Marie-Tooth disease

Alpha-1 antitrypsin deficiency (AATD)

Craniosynostosis

G6PD deficiency

Down syndrome

Apert syndrome

Prader-Willi syndrome

Von Willebrand disease

Noonan syndrome

Intersex variation

Hip dysplasia

Colour blindness

Huntington's disease

Spinal muscular atrophy (SMA)

Cystic fibrosis (CF)

Life stage

What is a congenital disorder?

Genetic disorders

UpBeat app

Congenital heart disease

Spina bifida

Aortic coarctation

Cri du chat syndrome

Chiari malformation

Lynch syndrome

Long QT syndrome

Turner syndrome

Cleft lip and cleft palate

Edwards syndrome (Trisomy 18)

Guide to genetic disorders

Fabry disease

Charcot-Marie-Tooth disease

Alpha-1 antitrypsin deficiency (AATD)

Craniosynostosis

G6PD deficiency

Down syndrome

Apert syndrome

Prader-Willi syndrome

Von Willebrand disease

Noonan syndrome

Intersex variation

Hip dysplasia

Colour blindness

Huntington's disease

Spinal muscular atrophy (SMA)

Cystic fibrosis (CF)

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