Down's syndrome, also known as Down syndrome, is a genetic condition that typically causes some level of learning disability and a characteristic range of physical features.
Most babies born with Down's syndrome are diagnosed with the condition after birth and are likely to have:
Although children with Down's syndrome share some common physical characteristics, they do not all look the same. A child with Down's syndrome will look more like their mother, father or other family members than other children with the syndrome.
People with Down's syndrome also vary in personality and ability. Everyone born with Down's syndrome will have a degree of learning disability. The level of learning disability will be different for each individual.
Read more about the characteristics of Down's syndrome.
In some cases, babies with the condition are identified before birth as a result of [antenatal screening for Down's syndrome]. If screening indicates there is a chance your baby has Down's syndrome, further testing is available to determine how likely it is.
Screening tests don't tell you for definite if your baby has Down's syndrome, but they can tell you how likely it is. The only way to get a definite diagnosis is for a chromosome test to be done using a sample of the baby's blood.
Read more information about how Down's syndrome is diagnosed.
Down's syndrome is one of the most common genetic causes of learning disability. Around 750 babies are born with the condition each year in the UK. Down's syndrome affects people of all races, religions and economic backgrounds equally.
The condition is caused by the presence of an extra copy of chromosome 21 in a baby's cells. It occurs by chance at conception and is irreversible. As yet, no one knows what causes the presence of the extra chromosome 21.
Although the chance of having a baby with Down's syndrome increases with age, babies with the syndrome are born to mothers of all ages. There is no evidence that anything done before or during pregnancy causes the syndrome.
Read more about the causes of Down's syndrome.
Some families find it difficult to accept a diagnosis of Down's syndrome and it is not uncommon for parents to experience negative thoughts after the birth of their new baby.
As with most new parents, a relationship begins to develop as their baby becomes more responsive and engaging. It is important to remember that a baby with Down's syndrome has the same needs as any baby. Books, magazines and support from family and friends are just as relevant.
Although there is no "cure" for Down's syndrome, there are ways to help children with the condition develop into healthy and fulfilled individuals who are able to achieve a level of independence right for them. This includes:
Improved education and support has presented more opportunities to people with Down's syndrome. These include the option to leave home, form new relationships, gain employment and lead independent lives.
However, it is important to remember that each child is different and it is not possible to predict how individuals will develop.
Read more about treating Down's syndrome.
Many children with Down's syndrome have associated health conditions. Possible complications include:
These conditions vary in severity with each individual. Some children experience none of them, while others experience several.
Your child may be checked by a paediatrician more often than other children to pick up developing problems as early as possible. If you have any concerns about your child's health, discuss them with your doctor, health visitor or paediatrician.
Read more about the complications of Down's syndrome.
Down's syndrome can affect a person in many different ways and each individual will experience different social and healthcare needs.
People with Down's syndrome share a number of physical characteristics. Not everyone will have all of them, but they may include:
However, it is important to note that people with Down's syndrome do not all look the same and will share physical features with their parents and family.
All children with Down's syndrome have some degree of learning disability and delayed development, but this varies widely between individual children.
Babies with Down's syndrome also often have short arms and legs and low muscle tone, making it harder for them to learn how to move.
Certain development milestones are often affected, including:
A small proportion of children with Down's syndrome have additional medical complications that also affect their development (see complications of Down's syndrome).
These extra difficulties affect about 10% of children with Down's syndrome. Speak to the health professionals working with your family for advice or an assessment if you believe your child may be experiencing extra difficulties.
It is important to recognise that a child with Down's syndrome may still acquire many of the cognitive and social skills most other people develop. It simply takes more time, and a child should be allowed to move forward at their own pace.
Read more about how Down's syndrome is treated.
Down's syndrome is a genetic condition that occurs as a result of an extra chromosome (chromosome 21).
The human body is made up of cells that contain genes. Genes are grouped in thread-like structures called chromosomes.
Chromosomes are blocks of deoxyribonucleic acid (DNA) and contain detailed genetic instructions responsible for a wide range of factors, including:
Usually, cells contain 46 chromosomes. A child inherits 23 from the mother and 23 from the father.
In people with Down's syndrome, all or some of the cells in their bodies contain 47 chromosomes, as there is an extra copy of chromosome 21. The additional genetic material causes physical and developmental characteristics associated with Down's syndrome.
There are three forms of Down's syndrome, although the effects of each type are usually the same.
Some people do not have symptoms of translocation Down's syndrome but they have altered genes that can trigger the condition in their children (translocation carriers).
The risk of a translocation carrier passing on the condition to their child depends on their sex (this is due to the way chromosomes are passed down through families). That is:
However, it is thought most cases of translocation Down's syndrome are not inherited in this way.
The age of a woman when she becomes pregnant (the maternal age) is the only clear factor to be identified as increasing the chance of having a baby with Down's syndrome.
For example, a woman who is:
However, babies with Down's syndrome are born to mothers of all ages and over half of babies with Down's syndrome are born to mothers who are under 35. This is because women under 35 make up the majority of the child-bearing population.
It is not known exactly what causes the extra chromosome 21. It can come from either parent and there is no way of predicting the likelihood of a person making an egg or sperm with an extra chromosome. There is currently no clinical evidence that anything done before or during pregnancy causes the syndrome.
Antenatal screening and testing can detect the likelihood of a baby being born with Down's syndrome. However, the condition is often diagnosed after birth, when the physical characteristics of Down's syndrome are recognised.
Pregnant women of any age should be offered screening for genetic conditions such as Down's syndrome.
Antenatal screening is a way of assessing the likelihood of your baby developing, or already having developed, an abnormality during your pregnancy. It cannot diagnose conditions such as Down's syndrome, but may help with the decision to have pre-natal diagnostic tests.
You should ideally have antenatal screening for Down's syndrome by the end of your first trimester (13 weeks and six days). Most women are screened between 11 and 13 weeks. However, if necessary, it is possible to have screening up to 20 weeks into your pregnancy (this may involve more blood tests).
Read more information about antenatal appointments.
Screening tests can:
Tests can also provide valuable information for your care during the pregnancy. However, no test can guarantee your baby will be born without an abnormality. No test is 100% accurate and some abnormalities may remain undetected.
If the chance of Down's syndrome (or any other condition) is shown to be high, you may be offered pre-natal diagnostic tests. These are tests to find out the likelihood of your baby being born with the suspected condition.
A sample of your blood is taken and tested to check the levels of certain proteins and hormones. If your blood contains abnormal levels of these substances, you may have an increased chance of having a baby with Down's syndrome.
A special type of ultrasound scan, known as nuchal translucency, measures the pocket of fluid behind the baby's neck. Babies with Down's syndrome usually have more fluid in their neck than normal. Measuring the thickness of fluid will help determine whether your baby is likely to have Down's syndrome.
If the results of your antenatal screening or ultrasound scan suggest your baby may have an increased chance of a condition, such as Down's syndrome, you may be advised to have further tests.
It is important to be aware that both of these tests can result in complications, although this is uncommon. Your doctor or midwife can discuss your options with you in detail.
Chorionic villus sampling (CVS) involves taking a small sample of the placenta for closer examination. The placenta is the organ in which the foetus develops.
CVS can be performed after 10 weeks of pregnancy. The sample is taken either by passing a thin needle through the wall of your abdomen (tummy), or by passing a small tube through your vagina and the neck of your womb (cervix).
The needle or tube is guided into the correct position using an ultrasound scan. After the sample has been taken, it will be sent to a laboratory for testing. The results will show whether your baby has Down's syndrome.
Possible complications of CVS include infection, heavy bleeding and miscarriage. It is estimated that approximately 1 in every 100 women will have a miscarriage following CVS.
Amniocentesis involves taking a small sample of amniotic fluid (the fluid that surrounds the foetus in the womb) for examination.
Amniocentesis is usually carried out after week 15 of pregnancy, and can be carried out up until week 22. The sample of amniotic fluid is taken by passing a needle through your abdomen (tummy) and womb. The sample is drawn out through a syringe.
As with CVS, the needle is guided into the correct position using an ultrasound scan. After the sample of amniotic fluid has been taken, it will be sent to a laboratory for testing.
Possible complications of amniocentesis can include infection and injury to you or your baby.
As with CVS, there is also a 1 in a 100 chance of having a miscarriage after the procedure.
Being told that your baby may have Down's syndrome can be difficult news to deal with. You should be offered counselling to allow you and your partner to discuss the impact of the diagnosis upon you, and talk about the available options. This will allow you to make an informed decision about how to proceed with the pregnancy.
Read more about genetic testing and counselling.
Once your baby is born, the initial diagnosis of Down's syndrome is usually based on your baby's physical appearance.
Read more about the characteristics of Down's syndrome.
If your doctor needs to definitively diagnose Down's syndrome, they will arrange for a blood test called a chromosomal karyotype. A sample of your baby's blood will be taken and sent to a laboratory so that the chromosomes in the blood can be analysed. If the blood test finds that there is an extra chromosome 21, your baby will be diagnosed with Down's syndrome.
There is no "cure" for Down's syndrome, but there is much that can be done to help someone with the condition lead a healthy, active and more independent life.
These are described in more detail below.
In some cases, it may not be apparent a baby has Down's syndrome until after they are born. Giving birth can be exciting, scary and tiring, and finding out that your baby has Down's syndrome can be unexpected and alarming.
Some families accept their baby's diagnosis of Down's syndrome quickly, while others need time to adjust.
If you have recently found out your child has Down's syndrome, you may feel a range of emotions, such as fear, sadness or confusion. It is quite common for parents to have negative thoughts after the birth of their new baby.
There is no right or wrong way to react. Finding out more about the condition will give you a better understanding about how it may affect your child's life, as well as your own.
Many parents find it reassuring to learn more about Down's syndrome and talk to other parents. The Down's Syndrome Association can put you in touch with another family who can share their own experiences with you.
Living with a young child with Down's syndrome can be demanding, particularly in the early years. It's important to find a balance to ensure your child can grow up within a happy, loving and active family environment.
As with all new babies, they need to fit in with what is going on around them and the needs of other family members. You don't always have to do educational or meaningful activities with your child, and it can be just as beneficial to their development and happiness to do fun activities with family.
Increasing numbers of children with Down's syndrome are educated in mainstream nurseries or mainstream schools with support.
However, individual needs vary and some children will benefit from attending a school or nursery that provides specialist support for children with a disability or special educational needs.
If your child has Down's syndrome, it is important to remember you are not alone in your situation.
You may find it helpful to talk about your experiences with other families. They can offer you advice and talk through any fears or concerns you may have.
Early intervention programmes are widespread for children with learning disabilities and help in all areas of child development, as well as providing support to the family.
These programmes include speech and language therapy and physiotherapy, as well as individual home teaching programmes for the child and family. Being part of an early intervention programme also gives families the opportunity to find out about the syndrome, meet other families in similar situations and offer support.
During the past 30 years, extensive research has taken place looking at how people with Down's syndrome learn, and which skills are particularly challenging. There is now information for professionals and families to use that enables children to develop the skills they need to get the most out of life. Children and adults with Down's syndrome can and do continue to learn throughout their lives.
Children and adults with Down's syndrome need regular check-ups to monitor their health. Certain health problems may be more likely to develop in people with Down's syndrome, so it's important to monitor their health to detect and treat any problems as soon as possible.
Read more information about the complications of Down's syndrome.
There are a number of different healthcare professionals who will monitor and treat someone with Down's syndrome. These may include:
Many young adults with Down's syndrome pursue further education. Some also gain employment, usually on a part-time basis, although this will depend on the individual. Many people with Down's syndrome enter loving relationships, although they may need guidance and support when it comes to things such as contraception.
With help and support, many adults with Down's syndrome are able to lead an active and independent life. Although it may not be possible to live completely independently, increasing numbers of adults with Down's syndrome are leaving home and living in their communities with support.
In most cases, adults with Down's syndrome move into property owned and staffed by a housing association. The staff provide different levels of support, depending on the individual's particular needs.
Men and women with Down's syndrome tend to have a reduced fertility rate. This does not mean they cannot conceive children, but it does make it more difficult. Those who decide to have children will usually need specialist guidance and support to help them cope with the physical and mental demands of a newborn baby.
If a woman has Down's syndrome, the chance of her child also having the condition is 35-50%. It is difficult to estimate the likelihood if both parents have the condition because this is still a very rare occurrence. The risk of miscarriage and premature birth is greater in women with Down's syndrome.
Richard Davis' daughter, Victoria, is seven. He talks about the impact Down's syndrome has had on Victoria and family life.
"We didn't know anything about Down's syndrome when Victoria was born. We now know it's the most common chromosome disorder.
"The people I've met who have Down's syndrome are able to walk, talk, dress themselves and feed themselves. A lot of them lead an almost normal life.
"Victoria has made many friends at school. She visits other people's houses without us and other children come here.
"She has lots of interests: she goes to ballet and gymnastics, and used to go trampolining. She also swims because that helps build up her muscles. People with Down's syndrome have low muscle tone.
"Victoria has a sort of global delay because of the Down's syndrome. She's able to move around fairly quickly, but has very little sense of danger compared with her peers at school. So you have to keep stressing that something is dangerous, like crossing the road. You have to keep an eye on her all the time.
"Co-ordination is much, much slower and therefore she does miss out on things like games with the other children.
"She's probably never going to go to Oxford or Cambridge and become a rocket scientist, but that's not going to disappoint me because I didn't do that either. Whatever she achieves is going to be great. I'm going to celebrate what she can achieve and not worry about what she can't.
"Looking after Victoria has made our marriage stronger. In the beginning, we thought it was a major problem that we had to overcome, but it really hasn't been.
"There are more trips to the hospital, and Victoria has more colds than an average child of her age. Her development is slower; you can definitely see that when she's playing with her peers.
"Unfortunately, there was no parent support group in our area, so we asked the Down's Syndrome Association to put us in touch with other new parents. We got together fairly quickly with six other parents whose child was born around about the same time. Talking to other parents about their experiences was very beneficial to us."
Emily, now 18, was born with Down's syndrome. Her mum, Sarah, talks about the health issues they faced and Emily's life today.
"I was quite a young mum when Emily was born. She had a few health problems and it was touch and go for the first few days.
"There's a lot more understanding now about Down's syndrome, although there's still some way to go. People with Down's syndrome are now included in television programmes and soaps, so you can see what they can achieve.
"It depends on your child as to whether they can go to a mainstream school or whether they need a bit of extra help. The special needs schools have a fantastic reputation academically, whereas a mainstream school can help with everyday behaviour and peer pressure.
"If they're struggling, nobody's going to benefit from the child being at a mainstream school. On the flip side, if they can manage at mainstream school and interact with their peer group, that's really beneficial for later life.
"Most children with Down's syndrome do everything their siblings do and can bring an awful lot of fun into the house because they're so mischievous.
"Their sense of danger is pretty diabolical. They don't see danger when they're little, and a lot like to run off. Emily used to run in any direction she chose. They may be slow in some ways, but they're fast at running once they've got the knack.
"She's ridden a pony from the age of about four and competes with everybody else down at the local riding club.
"She's at college at the moment. We hoped that she'd go off to residential college to get more independence, but she said she's never leaving home, so we'll see. At the same time, she'd love a flat of her own so she can be with her boyfriend or a group of friends.
"She's had a few job offers already. One is in Worcester, which would mean moving away from home during the week, and she's also been offered jobs locally. It's a case of making sure she's happy doing whatever she wants to do and has the independence she wants, but with the background care so it doesn't fail.
"Emily's looking at a perfectly normal life of growing up, getting married and living independently. Our job is to help her get there."
Some children with Down's syndrome have very few health problems as a result of their condition. Others will experience several of the more common health conditions and will need extra medical care and attention.
Possible health complications of Down's syndrome include:
These are outlined in more detail below.
While some of these conditions are serious, most are not. Your child may be checked by a paediatrician more often than other children to pick up developing problems as early as possible. If you have any concerns about your child's health, discuss them with your doctor, health visitor or paediatrician.
Around 50% of children with Down's syndrome have a congenital heart defect. A congenital defect means that you are born with it. Around 60% of children with Down's syndrome who are born with a heart defect require treatment in hospital.
Septal defects account for 9 out of 10 cases of congenital heart disease in people with Down's syndrome. A septal defect is a hole inside one of the walls that separate the four chambers of the heart, often referred to as a "hole in the heart".
It can cause a build-up of blood in one or more of the heart's chambers, which causes the heart to work harder to pump blood through the four chambers.
Less common but serious types of congenital heart disease in people with Down's syndrome include:
Tetralogy of Fallot is a combination of four different heart defects that causes a lowering of oxygen levels in the blood. This can lead to symptoms of breathlessness.
Patent ductus arteriosus (PDA) is a duct or passage in the heart that usually closes shortly after birth. However, in cases of PDA the duct fails to completely close, which means oxygen-rich blood that is meant to be pumped away from the lungs leaks back through the duct and into the lungs.
This can place strain on the heart and lungs because they have to work harder to compensate for the problems caused by the duct.
If your baby is diagnosed with Down's syndrome, their heart will be carefully assessed to detect and treat any problems as soon as possible.
Many people with Down's syndrome have some sort of intestinal problem. Constipation, diarrhoea and indigestion are all common, as are more serious problems such as small bowel obstruction, which stops food passing from the stomach into the large bowel.
An estimated 5-15% of people with Down's syndrome develop coeliac disease (an intolerance to gluten).
Conditions such as imperforate anus (where a baby is born without an anal opening) or Hirschsprung's disease (where the large bowel is unable to push faeces towards the anus) are rare, but slightly more common in children with Down's syndrome.
Around 50% of people with Down's syndrome have problems with their ears and hearing.
Glue ear commonly affects people with the condition. It is caused by a build-up of fluid in the middle ear. In some cases, the fluid thickens and causes sounds to be muffled and distorted.
If your child has a hearing problem, they may find it difficult to learn and interact with other children. If your child has glue ear as a result of Down's syndrome, they will usually be referred to an ear, nose and throat (ENT) specialist for treatment.
Around 50% of people with Down's syndrome also have problems with their eyesight.
Common eye problems include:
Around 10% of people with Down's syndrome have problems with their thyroid gland. The thyroid gland is located in the neck and is responsible for controlling your metabolism (the rate at which your body uses up energy). It does this by releasing thyroid hormones into the body.
Most people with Down's syndrome who have a problem with their thyroid have hypothyroidism, which means their thyroid gland is underactive. Symptoms of an underactive thyroid gland can include:
In rarer cases, people with Down's syndrome can also develop hyperthyroidism, which means their thyroid gland is overactive and produces too much thyroid hormone. Symptoms of hyperthyroidism can include:
People with Down's syndrome are more likely to develop infections, particularly the lung infection pneumonia. This is because their immune system (the body's natural defence against infection) has not developed properly.
Children with Down's syndrome also have an increased risk of developing acute leukaemia.
Around 1 in 100 children with Down's syndrome go on to develop acute leukaemia.
Dementia is a frequently voiced concern about people with Down's syndrome. There is a tendency for people with Down's syndrome to develop dementia at a younger age than in the general population.
However, recent research indicates that the overall percentage of adults with Down's syndrome who develop dementia is similar to that of the population who do not have Down's syndrome. It is not inevitable that people with Down's syndrome will develop the condition.
Important: Our website provides useful information but is not a substitute for medical advice. You should always seek the advice of your doctor when making decisions about your health.