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.
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Down Syndrome Good Health App
Supports adults with Down syndrome to keep a diary of their meals, water intake, exercise and daily activities
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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.
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UpBeat app
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.
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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.
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Craniosynostosis
Read about craniosynostosis — when the seams between the bones in your baby's skull close too early, causing an abnormal head shape.
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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.
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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.
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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.
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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.
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