Search results for: neonatal diseases and defects

Congenital heart disease

Congenital heart disease is a birth defect caused when your heart hasn't formed properly. It varies in severity from uncomplicated to serious.

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.

What is a congenital disorder?

Health problems present from birth include any health condition that a baby is born with and are sometimes called birth defects, birth differences or congenital anomalies.

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.

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.

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.

Craniosynostosis

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

Long QT syndrome

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

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.

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.

Huntington's disease

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

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.

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.

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.

Cystic fibrosis (CF)

Cystic fibrosis (CF) is a genetic disease that affects your lungs and digestive system. Learn more about what causes CF and how it is treated.

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.

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.

Von Willebrand disease

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

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.

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Search results for: "neonatal diseases and defects"

Life stage

Congenital heart disease

Genetic disorders

UpBeat app

What is a congenital disorder?

Spina bifida

Turner syndrome

Aortic coarctation

Cri du chat syndrome

Chiari malformation

Craniosynostosis

Long QT syndrome

Lynch syndrome

Cleft lip and cleft palate

Edwards syndrome (Trisomy 18)

Guide to genetic disorders

Fabry disease

Huntington's disease

Charcot-Marie-Tooth disease

Spinal muscular atrophy (SMA)

Alpha-1 antitrypsin deficiency (AATD)

Cystic fibrosis (CF)

G6PD deficiency

Down syndrome

Apert syndrome

Prader-Willi syndrome

Noonan syndrome

Von Willebrand disease

Intersex variation

Hip dysplasia

Colour blindness

Life stage

Congenital heart disease

Genetic disorders

UpBeat app

What is a congenital disorder?

Spina bifida

Turner syndrome

Aortic coarctation

Cri du chat syndrome

Chiari malformation

Craniosynostosis

Long QT syndrome

Lynch syndrome

Cleft lip and cleft palate

Edwards syndrome (Trisomy 18)

Guide to genetic disorders

Fabry disease

Huntington's disease

Charcot-Marie-Tooth disease

Spinal muscular atrophy (SMA)

Alpha-1 antitrypsin deficiency (AATD)

Cystic fibrosis (CF)

G6PD deficiency

Down syndrome

Apert syndrome

Prader-Willi syndrome

Noonan syndrome

Von Willebrand disease

Intersex variation

Hip dysplasia

Colour blindness

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