Search results for: Congenital, Hereditary and Neonatal Diseases

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.

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.

Down Syndrome Good Health App

Supports adults with Down syndrome to keep a diary of their meals, water intake, exercise and daily activities

Down Syndrome Health Record App

Health record app is for parents and support people of children with Down syndrome that assists them to record and monitor their child’s health, growth and development.

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.

Umbilical hernia

An umbilical hernia occurs when the muscles around the belly button are weak or have a gap in them. Find out more about umbilical hernia.

Tourette syndrome

People with this syndrome make involuntary repetitive sounds and movements. Most don't need treatment, and relaxation exercises may reduce symptoms.

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).

Phenylketonuria

Phenylketonuria (PKU) is an inherited problem with breaking down protein. With the right diet, people with PKU can live a normal life. Learn about diagnosis and the PKU diet.

Craniosynostosis

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

Down syndrome

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

Albinism

Albinism is a group of genetic conditions. People with albinism have no or very little colour in their hair, skin and eyes so sun protection is vital.

Angelman syndrome

A rare syndrome causing physical and intellectual disability. It can’t be cured, but some therapies can improve the quality of life of those affected.

Rett syndrome

Rett syndrome causes intellectual and physical disability. It’s been described relatively recently, so it’s not known how it progresses to middle age.

Umbilical hernia repair (child)

An umbilical hernia is caused by a weakness in the layer of muscle of the abdominal wall, just behind the belly button. This can be repaired by surgery.

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.

Klinefelter (XXY) syndrome

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

Hip dysplasia

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

Huntington's disease

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

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.

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.

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.

Long QT syndrome

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

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.

Tuberous sclerosis

Tuberous sclerosis is a rare genetic disease that may affect many parts of your body, behaviour and thinking. There’s no cure, but it can be treated.

Fetal alcohol spectrum disorder

Fetal alcohol spectrum disorder (FASD) is a range of conditions caused by exposure to alcohol during pregnancy. Learn more about FASD 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 symptoms. Learn more 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.

Marfan syndrome

Marfan syndrome is a genetic condition that causes a loss of elastic tissue. Find out about the symptoms and treatments for Marfan syndrome.

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Search results for: "Congenital, Hereditary and Neonatal Diseases"

Life stage

What is a congenital disorder?

Genetic disorders

Down Syndrome Good Health App

Down Syndrome Health Record App

UpBeat app

Umbilical hernia

Tourette syndrome

5 things people with Down syndrome want you to know

Phenylketonuria

Craniosynostosis

Down syndrome

Albinism

Angelman syndrome

Rett syndrome

Umbilical hernia repair (child)

Turner syndrome

Klinefelter (XXY) syndrome

Hip dysplasia

Huntington's disease

Congenital heart disease

Spinal muscular atrophy (SMA)

Aortic coarctation

Chiari malformation

Long QT syndrome

Cleft lip and cleft palate

Tuberous sclerosis

Fetal alcohol spectrum disorder

Fabry disease

Lynch syndrome

Marfan syndrome

Life stage

What is a congenital disorder?

Genetic disorders

Down Syndrome Good Health App

Down Syndrome Health Record App

UpBeat app

Umbilical hernia

Tourette syndrome

5 things people with Down syndrome want you to know

Phenylketonuria

Craniosynostosis

Down syndrome

Albinism

Angelman syndrome

Rett syndrome

Umbilical hernia repair (child)

Turner syndrome

Klinefelter (XXY) syndrome

Hip dysplasia

Huntington's disease

Congenital heart disease

Spinal muscular atrophy (SMA)

Aortic coarctation

Chiari malformation

Long QT syndrome

Cleft lip and cleft palate

Tuberous sclerosis

Fetal alcohol spectrum disorder

Fabry disease

Lynch syndrome

Marfan syndrome

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