What is Down syndrome?

Down syndrome is a genetic condition and is also sometimes known as trisomy 21. You can find out more about Down syndrome below. You can also turn on the Easy Read for this page.
What is Down syndrome? thumbnail.

Every person with Down syndrome is an individual. Just like everyone else they will have different things they are good at and other things that they find harder.

Down syndrome occurs at conception. People from all different backgrounds and ages have children with Down syndrome.

Our bodies are made up of trillions of cells. In each cell there are tiny structures called chromosomes. The DNA in our chromosomes determines how we develop. Most people have 23 pairs of chromosomes in each of their cells (46 in total). People with Down syndrome have 47 chromosomes in their cells. They have an extra chromosome 21, which is why Down syndrome is also sometimes known as trisomy 21.

People with Down syndrome may have:

  • areas of strengths and other areas where they need more support, just like everyone else in the community
  • some level of intellectual disability
  • some characteristic physical features
  • increased risk of some health conditions (many of which are treatable)
  • some developmental delays.

Down syndrome is a genetic condition, not an illness or disease. It is nobody’s fault. There is no cure and it does not go away.

Find out more in our fact sheet and video.

Learn more about Down syndrome

How is Down syndrome diagnosed?

Screening for Down syndrome can be carried out before a baby is born. If Down syndrome is not diagnosed before the child is born, doctors will usually identify a baby as having some features which are common to Down syndrome. This can be confirmed by a blood test.

Find out more about prenatal screening and testing here.

What is it like to have Down syndrome?

Everyone who has Down syndrome will have some level of intellectual disability. There will be some delay in development and some level of learning difficulty. Every person with Down syndrome is different and has different skills and needs for support.

Most young people growing up with Down syndrome today go to school, get a job – just like everyone else.

People with Down syndrome are capable of living full, happy lives as valued members of their communities.

Find out more in “Living with Down syndrome”.

Living with Down syndrome

Prenatal information

The Down Syndrome Federation provides support and information for expecting parents. The national 1300 number (1300 881 935) will connect you to your local state or territory Down syndrome organisation.  Staff at the organisation can provide you with non-directive information and answer questions.  They can also arrange for you to talk to a parent of a child with Down syndrome.

We also have a prenatal fact sheet that has easy-to-understand, factual information if you are considering prenatal screening. This document is also helpful if you have received unexpected results.

Baby boy playing with his dad

New parents

Many new parents find it is helpful to connect with another parent who has been through a similar experience. The state and territory Down syndrome associations provide support, information and local linkages to other families. Personal visits to families at home or in metropolitan hospitals are often also available. New parent information packs are provided free to all new families and your local Down syndrome association will let you know about the next event in your area. You can find information and resources in our New Parents section.

Girl playing with a tablet


A quality education is vital for all children and an essential step on the pathway to adult life. There are a range of supports and resources for parents and educators to assist in the educational journey of students with Down syndrome.

You can find information and resources in our Education Resources section. State and territory associations can also provide education support services. You may want to contact your local association to find out about supports in your area. We also have a Community Inclusion Toolkit to support the inclusion of people with Down syndrome in education.

Andrew smiling


Employment can fulfil the need for people with Down syndrome to be productive, independent, and to participate in mainstream life. Some people with Down syndrome work full time while others have a mixture of activities during the week. Different work and support options are available within the national disability employment system. We recommend you get in touch with your local state or territory office for up-to-date information. 

You can find information on Down Syndrome in the workplace for employers and employees in our Employment section. We also have a Community Inclusion Toolkit to support the inclusion of people with Down syndrome in the work force.

Toddler kissing her mother outdoors

Health and Wellbeing

As recently as the 1950s, life expectancy for people with Down syndrome was as low as 15 years of age. In recent times, progress in medical and social sciences has improved the health and the quality of life enjoyed by people with Down syndrome. In Australia today, most people with Down syndrome will enjoy a long, happy and healthy life with an average life expectancy of 60.

There are some common health issues and some more serious medical conditions that are more likely to occur in people with Down syndrome than in other people. Regular health checks may be required for specific issues. Living a healthy lifestyle is important, including keeping fit and getting regular exercise. You can find more information about health and wellbeing in our health section.

Information and Support

You can call or email your local Down syndrome association for support and information.

What is Down syndrome?

A man looks at a microscope

Our bodies are made up of lots of tiny cells. The cells are too small to see without a strong microscope.


Each cell contains chromosomes. These are like tiny threads that hold genes.

Genes carry information that makes us who we are, what we will look like, and how we will develop.


For example, your genes say what colour eyes and hair you will have, and how tall you will be.

Mother hugging her child.

Down syndrome is something that happens in babies before they are born, and they will always have Down syndrome all their life.

A man and woman stand together

Usually, we get 23 chromosomes from our mother and 23 from our father.

People with Down syndrome have an extra number 21 chromosome in each cell, compared to other people.

Chromosomes explained on a diagram

Down syndrome is named after Dr John Langdon Down who wrote about it in 1866.

Down syndrome is sometimes called trisomy 21, because people with Down syndrome have three number 21 chromosomes.

A syndrome is a group of different things that can happen in your body.

A syndrome is not an illness or a disease.

a young woman receives a health check

But sometimes you can have health problems and you might need support to do some things.

What is it like to have Down syndrome?


Every person with Down syndrome is an individual.

Just like everyone else, people with Down syndrome will be good at some things, and need help with other things.

A person with Down syndrome thinking

People with Down syndrome have an intellectual disability. This means you might find it hard to learn, and you may learn more slowly, or in different ways.

A man sits at a table writing

Some people with Down syndrome are good at reading and writing.

Reading a book

You might like to learn and read using pictures.

Or you might be great at remembering things without writing them down.

A man with Down syndrome

Everyone can learn and be smart in their own way. And you will keep on learning new things all your life.

A smiling man having a phone call

People can usually see if a person has Down syndrome. This is because of some physical differences in your face and body.

For example, you may have a small nose and ears. You could have almond shaped eyes with light marks in the coloured part.

A young woman stands outdoors with her family

You may be shorter than other people in your family.

Other people can also have these things, but they are a lot more likely in people with Down syndrome.

Family photo of 4.

If you have Down syndrome, you may look a bit like other people with Down syndrome.

But you will also look like your parents, brothers and sisters.

A man has his blood pressure checked

There are also some health problems that people with Down syndrome are more likely to have. So it’s important to have good health care.

How do you know if a baby has Down syndrome?

A pregnant woman touches her stomach

Sometimes, parents will find out if their baby has Down syndrome before it is born.

Other parents won’t find out until their baby has been born.

An expectant mother undergoes prenatal testing

There are different kinds of tests parents will sometimes have when they are pregnant.

The tests are to see if their baby has Down syndrome or other conditions.

Pregnant woman with hands on her stomach.

If the parents don’t know before the baby is born, doctors will look to see if the baby has physical signs of Down syndrome.

They will also do blood tests to see if the baby has the extra 21 chromosome.

Prenatal information

A woman seeks information over the telephone

Expecting parents can get support and information from the Down syndrome organisation in their state.

This is a national phone number that links people to their local organisation.

1300 881 935

A mother and a young child

Staff at the local organisation don’t tell people what they should do.

They can help with information and answer questions.

They can organise for people to talk with a parent of a child with Down syndrome.

Expectant parent guide

Down Syndrome Australia have some more prenatal information. You can read the Guide for Expectant Parents and other factsheets on our website.

New Parents

Parents hold their young son

New parents can find it helpful to talk to another parent of a child with Down syndrome.

Some Down syndrome organisations can arrange an experienced parent to visit in hospital or at home.

map of Australia with Down syndrome Australia logo

Down syndrome organisations in each state can organise for new parents to link up with other families.

The state organisations will also tell new parents when family events are happening.

A guide for new parents

They can also give a New Parent Information Pack to new families. These are free.

Here is a link to our new parent information.


A woman playing guitar for a group of children.

A good education is a very important step in life for children with Down syndrome.

There is lots of information and help for parents and teachers.

It will help them make sure children with Down syndrome get the education they need.

Education toolkit

There are some information resources for parents, teachers and other education workers.

You can find these in our Education Toolkit.

map of Australia with Down syndrome Australia logo

State Down syndrome organisations can also help with local information and support.


A young woman sitting at a desk next to a computer

People with Down syndrome want to work for the same reasons as everyone else.

This includes being proud of their work and being part of society. Being paid for their work helps people to be more independent.

A man a work shirt and tie holding a coffee

Some people work full time. Other people work part time. They might do other things such as volunteering or training to help with getting a job.


There are different kinds of supports to help people with Down syndrome find and keep a job. These are part of the government’s national employment plan.

People can get funding in their NDIS plans. This could include help to learn new skills, set up a small business or be a volunteer.

A Guide For Employers Resource

There are also Disability Employment organisations (DES) to help people find and keep a job.

Down Syndrome Australia has information resources for people with Down syndrome, families and employers.

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You can find out more in our Employment Toolkit.