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.

Tourette syndrome

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

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.

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.

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.

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.

Klinefelter (XXY) syndrome

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

Huntington's disease

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

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.

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.

Sickle cell anaemia

Sickle cell anaemia is the most common and serious form of sickle cell disease. Read more about sickle cell anaemia and how it is treated.

Hip dysplasia

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

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.

Fragile X syndrome

Fragile X syndrome is the most common inherited cause of intellectual disability. It also causes physical, behavioural and emotional difficulties.

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.

Williams syndrome

Williams syndrome can cause development, learning and medical problems, although children with it often have well-developed language and music skills.

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.

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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

Tourette syndrome

Craniosynostosis

Turner syndrome

Albinism

Angelman syndrome

Rett syndrome

Phenylketonuria

Umbilical hernia repair (child)

Klinefelter (XXY) syndrome

Huntington's disease

Spinal muscular atrophy (SMA)

Aortic coarctation

Chiari malformation

Long QT syndrome

Alpha-1 antitrypsin deficiency (AATD)

Sickle cell anaemia

Hip dysplasia

Fabry disease

Lynch syndrome

Marfan syndrome

Edwards syndrome (Trisomy 18)

Fragile X syndrome

Apert syndrome

Williams syndrome

Noonan syndrome

Life stage

What is a congenital disorder?

Genetic disorders

Down Syndrome Good Health App

Down Syndrome Health Record App

UpBeat app

Tourette syndrome

Craniosynostosis

Turner syndrome

Albinism

Angelman syndrome

Rett syndrome

Phenylketonuria

Umbilical hernia repair (child)

Klinefelter (XXY) syndrome

Huntington's disease

Spinal muscular atrophy (SMA)

Aortic coarctation

Chiari malformation

Long QT syndrome

Alpha-1 antitrypsin deficiency (AATD)

Sickle cell anaemia

Hip dysplasia

Fabry disease

Lynch syndrome

Marfan syndrome

Edwards syndrome (Trisomy 18)

Fragile X syndrome

Apert syndrome

Williams syndrome

Noonan syndrome

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