Down syndrome

Down syndrome is a genetic disorder. It's not an illness or disease. It affects people of all ethnic and cultural backgrounds.

There are 3 types of Down syndrome:

• Trisomy 21 — most people with Down syndrome have trisomy 21. This means they are born with 3 copies of chromosome 21 in every cell (most people have only 2 copies).
• Translocation Down syndrome — some people with Down syndrome are born with part or all of the chromosome 21 attached to another chromosome.
• Mosaic Down syndrome — this is when only some of the person's cells have an extra copy of chromosome 21.

About 1 in every 1,100 babies born in Australia have Down syndrome. People with Down syndrome often experience specific health challenges.

Most children with Down syndrome go to school and get jobs, just like everyone else. They can live happy, fulfilling lives and are important members of their communities.

People with Down syndrome may have:

• some typical physical features like the shape of their eyes, ears, neck and face
• hearing or visual problems
• some cognitive (mental) difficulties
• some developmental delay

People with Down syndrome will have some level of cognitive impairment, ranging from mild to severe.

Most people have 23 pairs of chromosomes in their cells (46 chromosomes in total). People with Down syndrome have an extra chromosome 21. This extra chromosome happens by chance.

Down syndrome happens at conception (Opens in new tab) (the moment when a female’s egg is fertilised by a male’s sperm).

The chance of having a baby with Down syndrome increases as the mother gets older.

If you are pregnant or planning to become pregnant, talk to your doctor about Down syndrome screening (Opens in new tab).

If your child has Down syndrome, make sure they visit their doctor regularly. This helps to monitor any related health conditions they may have.

Down syndrome is usually diagnosed before birth. There are tests (Opens in new tab) that can be done during your pregnancy to see if your baby has Down syndrome. If the tests show that your baby has Down syndrome, it is a good idea to speak to a genetic counsellor (Opens in new tab) about your options. They can help you think about continuing or ending your pregnancy.

Some babies are only diagnosed after birth. If your doctor suspects that your baby has Down syndrome, they will order a blood test for your baby to confirm the diagnosis.

Children with Down syndrome usually develop more slowly in some areas. Starting early support (Opens in new tab) can help them reach important milestones. Early help can begin any time after they're born, but the sooner it starts, the better.

Down syndrome is not an illness or disease, it is a genetic condition and there is no cure or way to treat it.

A healthy diet and physical activity are important for everyone including people with Down syndrome.

If you have Down syndrome, you are more likely to:

• be living with obesity
• have low thyroid hormone levels
• develop osteoporosis

Regular health checks are important so related health conditions can be managed and treated. This includes dental checks.

Many people with Down syndrome lead independent, happy and healthy lives. Some have jobs and need very little support. They also have friendships and relationships and lead fulfilling personal lives. Others may need more support to help achieve the kind of life most people like to live.

In Australia, the average life expectancy of a person with Down syndrome is 60 years.

Watch this video about the importance of building relationships with health professionals for people with Down syndrome and their families.

People with Down syndrome may have a higher chance of health problems, such as:

• problems with their vision
• problems with their hearing
• gut problems
• heart defects
• hypothyroidism
• problems with their bones and muscle
• problems with their skin

Some people with Down syndrome have congenital heart disease. It's important that your newborn with Down syndrome is checked by a paediatric cardiologist. This is a doctor who specialises in looking after the hearts of babies and children.

Children with Down syndrome have a higher chance of having a rare, serious but treatable condition called moyamoya syndrome (MMS) that can cause ischemic stroke. A paediatric neurologist can check for MMS using brain scans. 

People with Down syndrome may also have lower immunity. This means they may get sick more often, especially in early childhood.

Everyone with Down syndrome has some degree of learning difficulty. They may need speech and language therapy to help them to speak clearly.

Down syndrome can’t be prevented. It’s no one’s fault. It can’t be cured. It is a genetic condition, not an illness or a disease.

However, the chance of having a child with Down syndrome increases as you get older. This means if you are pregnant at more than 35 years old it’s more likely for your baby to have Down syndrome.

Your doctor is the best person to see for health support. They can also connect you with other local services.

Read more about prenatal chromosomal screening (Opens in new tab) and caring for a child with Down syndrome (Opens in new tab).

For more information and support, try these resources:

• Down Syndrome Australia (Opens in new tab) offers more information about Down syndrome. Talk with them by calling 1300 881 935.
• Down Syndrome Australia (Opens in new tab) also has resources in several languages including Arabic, Chinese, Hindi, Vietnamese, and Mongolian.
• Carer Gateway (Opens in new tab) for emotional and practical services and support for carers.
• The Pregnancy, Birth and Baby video call service (Opens in new tab) allows you to speak with a maternal child health nurse. This free service is available from 7am to midnight (AET), 7 days a week.

Information for Aboriginal and/or Torres Strait Islander peoples

You can find out more about Aboriginal and/or Torres Strait Islander pregnancy health at Stronger Bubba Born (Opens in new tab) or watch their video on how to have a safer pregnancy (Opens in new tab).