Search results for: neonatal diseases

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.

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

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.

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.

Milia

Milia are tiny, white lumps that can appear on the face of newborn babies, young children and adults. Learn about different types 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.

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.

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.

Tourette syndrome

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

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.

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.

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.

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.

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.

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.

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.

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.

Lupus

Lupus is a disease where your immune system attacks your own normal cells. Its cause is not yet entirely understood, but treatments are available.

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.

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.

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Search results for: "neonatal diseases"

Life stage

Genetic disorders

Down Syndrome Good Health App

Down Syndrome Health Record App

UpBeat app

Phenylketonuria

Umbilical hernia

What is a congenital disorder?

Milia

Craniosynostosis

Turner syndrome

Edwards syndrome (Trisomy 18)

Tourette syndrome

Albinism

Angelman syndrome

Rett syndrome

Umbilical hernia repair (child)

Fabry disease

Huntington's disease

Congenital heart disease

Charcot-Marie-Tooth disease

Sickle cell anaemia

Spinal muscular atrophy (SMA)

Alpha-1 antitrypsin deficiency (AATD)

Cystic fibrosis (CF)

Tuberous sclerosis

Long QT syndrome

Lynch syndrome

Lupus

G6PD deficiency

Apert syndrome

Life stage

Genetic disorders

Down Syndrome Good Health App

Down Syndrome Health Record App

UpBeat app

Phenylketonuria

Umbilical hernia

What is a congenital disorder?

Milia

Craniosynostosis

Turner syndrome

Edwards syndrome (Trisomy 18)

Tourette syndrome

Albinism

Angelman syndrome

Rett syndrome

Umbilical hernia repair (child)

Fabry disease

Huntington's disease

Congenital heart disease

Charcot-Marie-Tooth disease

Sickle cell anaemia

Spinal muscular atrophy (SMA)

Alpha-1 antitrypsin deficiency (AATD)

Cystic fibrosis (CF)

Tuberous sclerosis

Long QT syndrome

Lynch syndrome

Lupus

G6PD deficiency

Apert syndrome

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