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.

What is a congenital disorder?

Congenital disorders are health conditions that are present from birth. They are also called birth differences, congenital anomalies or birth defects.

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.

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.

Phenylketonuria

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

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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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

What is a congenital disorder?

Milia

Craniosynostosis

Edwards syndrome (Trisomy 18)

Phenylketonuria

Albinism

Rett syndrome

Umbilical hernia repair (child)

Fabry disease

Huntington's disease

Congenital heart disease

Charcot-Marie-Tooth disease

Spinal muscular atrophy (SMA)

Alpha-1 antitrypsin deficiency (AATD)

Tuberous sclerosis

Long QT syndrome

Lynch syndrome

Turner syndrome

G6PD deficiency

Down syndrome

Apert syndrome

Prader-Willi syndrome

Aortic coarctation

Marfan syndrome

Noonan syndrome

Cri du chat syndrome

Life stage

Genetic disorders

Down Syndrome Good Health App

Down Syndrome Health Record App

UpBeat app

What is a congenital disorder?

Milia

Craniosynostosis

Edwards syndrome (Trisomy 18)

Phenylketonuria

Albinism

Rett syndrome

Umbilical hernia repair (child)

Fabry disease

Huntington's disease

Congenital heart disease

Charcot-Marie-Tooth disease

Spinal muscular atrophy (SMA)

Alpha-1 antitrypsin deficiency (AATD)

Tuberous sclerosis

Long QT syndrome

Lynch syndrome

Turner syndrome

G6PD deficiency

Down syndrome

Apert syndrome

Prader-Willi syndrome

Aortic coarctation

Marfan syndrome

Noonan syndrome

Cri du chat syndrome

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