Search results for: neonatal%20diseases%20and%20defects

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.

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.

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).

What is a congenital disorder?

Congenital disorder, also known as congenital disease or birth defects, are conditions present from birth. Find out more about congenital disorders.

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.

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.

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.

Craniosynostosis

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

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.

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.

Down syndrome

Down syndrome is caused by trisomy 21. People with Down syndrome are affected differently. It causes learning difficulties, and some health problems.

Long QT syndrome

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

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.

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.

Huntington's disease

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

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.

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.

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 your lungs and digestive system. Learn more about what causes CF and how it is treated.

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.

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.

Klinefelter (XXY) syndrome

Klinefelter (XXY) syndrome symptoms includes small genitals and infertility. Around 1 in 500 males have Klinefelter syndrome, but most are unaware.

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.

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%).

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Search results for: "neonatal%20diseases%20and%20defects"

Life stage

Congenital heart disease

Genetic disorders

UpBeat app

Spina bifida

Cri du chat syndrome

5 things people with Down syndrome want you to know

What is a congenital disorder?

Aortic coarctation

Chiari malformation

Alpha-1 antitrypsin deficiency

Craniosynostosis

Turner syndrome

Apert syndrome

Down syndrome

Long QT syndrome

Guide to genetic disorders

Cleft lip and cleft palate

Edwards syndrome (Trisomy 18)

Huntington's disease

Fabry disease

Charcot-Marie-Tooth disease

Family medical history

Spinal muscular atrophy (SMA)

Cystic fibrosis (CF)

Lynch syndrome

G6PD deficiency

Klinefelter (XXY) syndrome

Prader-Willi syndrome

Noonan syndrome

Intersex variation

Life stage

Congenital heart disease

Genetic disorders

UpBeat app

Spina bifida

Cri du chat syndrome

5 things people with Down syndrome want you to know

What is a congenital disorder?

Aortic coarctation

Chiari malformation

Alpha-1 antitrypsin deficiency

Craniosynostosis

Turner syndrome

Apert syndrome

Down syndrome

Long QT syndrome

Guide to genetic disorders

Cleft lip and cleft palate

Edwards syndrome (Trisomy 18)

Huntington's disease

Fabry disease

Charcot-Marie-Tooth disease

Family medical history

Spinal muscular atrophy (SMA)

Cystic fibrosis (CF)

Lynch syndrome

G6PD deficiency

Klinefelter (XXY) syndrome

Prader-Willi syndrome

Noonan syndrome

Intersex variation

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