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What Is Down Syndrome: Facts and Symptoms

Updated on August 26, 2016
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Carolee is a passionate writer with a love for learning and teaching. She is a published author, poet, blogger, and content creator.


What is Down Syndrome?

Down syndrome statistics

Down Syndrome is a genetic condition that slows down mental and physical development. Statistics from the National Association for Down syndrome shows that one child out of every 691 is born with the condition.

According to the book: Babies with Down syndrome, a New Parents’ Guide – 1 in every 733 babies in the US are born with the condition.

Down Syndrome babies

Normal babies are born with 46 chromosomes (an organized structure of DNA and protein that is found in cells) whereas down syndrome babaies born with 47. It is the most common chromosomal condition or disorder to date.

It is usually diagnosed shortly after the baby is born, in most cases in the hospital. If your baby was not born in a hospital you should take your baby immediately to the doctor or hospital to be checked out. There are signs that tell you that your child may have the extra chromosome.

Even though there are physical characteristics that may tell if a child is born with the condition a chromosome studies called a keratype , will have to be done to give a definitive diagnosis.


Symptoms of Down Syndrome

Some of the physical signs and symptoms of down syndrome that will alert you to this condition are:

  1. Low muscle tone also known as hypotonia . The muscle will feel floppy and look relaxed. All the muscles in the body will be affected. This is one of the features in newborns that usually alert doctors to check for Down syndrome.
  2. The Face: The baby’s face might be a bit broader than usual and the nose bridge flat. Down syndrome babies usually have smaller noses than regular children. The eyes may be crossed or slanted upward (upslanting palpebral fissures ). They may also have small folds of skin at the inner corners of the eyes, these are called epicanthal folds . The irises may have light spots call brushfield spots . They do not affect the baby’s sight. A small mouth may indicate Down syndrome and the roof of the mouth may be shallow. If the baby has low muscle tone along with the small mouth and shallow roof the tongue may be protruded and seem too large for the mouth. The teeth of the baby may be late in growing and when this happens they may appear scattered and pointy. The ears of the baby may be small and the tops may fold over. Sometimes there are no earlobes or they are very tiny. The ear canal may also be small but improves with the baby’s growth.
  3. The head of the child may be smaller than usual and the neck shorter and fatter. There may be loose folds of skin at the nape but these usually disappear with growth.
  4. The size and length of the baby will be as other children but they do not develop as fast as other children do. Doctors will monitor your child’s growth and weight to make sure they are gaining weight and growing the way they should.
  5. The hands might be smaller and fingers shorter but the feet are usually normal, but there might be a gap between the first and second toes.

Other physical symptoms may be a funnel shaped chest, sensitive skin, mottled skin, thin soft hair which may fall out in some places.

The only feature however that affects the baby’s physical development is the low muscle tone of the child. The child will need to undergo a series of therapies to assist with development as there will be a degree of intellectual disability.

To help your child integrate into society there are treatments available that will assist with cognition, speech and movement.

If you know a child with Down Syndrome or have one of your own, don’t keep them from society. Let them be a part of the normal school system or activities. It is known that children with disabilities develop faster if they are treated as equals to other children.

Give them love and attention, teach them the same things that you would a normal child and watch them develop into amazing adults. They may be slower at it but when they achieve something it is amazing to them and must be to you too.

Keep your Down Syndrome baby, you will be happier for it.

Not all of these defects will affect every child.

Down Syndrome Diagnosis

Pre-Natal Diagnosis

In recent years there has been advancement in detection such as detecting prenatally. Women can now know before their baby is born if their child has the disorder. There are two tests that have been developed to tell whether your baby will be born with Down syndrome or not.

  • The Screening test which will assess or estimate the risk of your baby being born with Down Syndrome. It is not a definitive test. This is called a Triple Screen and combines three tests. There are substances in the blood which are screened for between the first fifteen and twenty weeks of pregnancy. An ultrasound is also done to see if there are any unusual physical characteristics of the fetus that might determine Down Syndrome. These tests are not 100% accurate and frequent false diagnosis occurs.
  • There are also three diagnostic tests. (1) First is the Chorionic Villus Sampling where a needle or catheter is used to collect samples from the placenta for biopsy to determine if there is any change of genetic disorder. This is especially true if you have a family history of genetic diseases. This test is done between 8 and 12 weeks of being pregnant. (2) Between twelve and twenty weeks into the pregnancy an Amniocentesis is performed. This is where the amniotic fluids are tested for chromosomal defects. (3) Next is the Percutaneous Umbilical Blood Sampling (PUBS) which is done after 20 weeks into your pregnancy. A sample of the baby’s blood is taken from the umbilical cord with a thin needle via the abdomen of mommy. The diagnostic tests are more definitive and usually very accurate.

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A story about Down Syndrome


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    • profile image


      3 years ago

      This is so incredibly offensive. Sounds like you just Googled Down syndrome and posted pretty much every myth and misconception out there. You need to educate yourself on DS and People First Language. Or how about you ACTUALLY talk to real parents with kiddo with DS (like me). You should be ashamed of yourself. People like you that spread this type of ugliness are the reason the abortion rate is so high and why people people like me have to fight so hard to overcome ignorance. Shame on you.

    • Cardisa profile imageAUTHOR

      Carolee Samuda 

      8 years ago from Jamaica

      Hello Kricket, DS persons are great to be around. I too have had a personal experience with a DS child and I too miss her.

    • profile image


      8 years ago

      i cared for a 20 yr old w/ DS. He taught me so much. He was always fun and silly. Always up for a challenge or new activity. I love him and miss him terribly.

    • Cardisa profile imageAUTHOR

      Carolee Samuda 

      8 years ago from Jamaica

      Hi Moonlake, people with this condition are the most loving people I know. They can be a bit aggressive when aggravated but that usually passes. I hope he will be okay.

    • moonlake profile image


      8 years ago from America

      My nephew has Down Syndrome he is 42 now. He loves everyone and sticks out his hand to shake hands. I worry about him because if his Dad were to die I don't know what he would do. His Dad is his life. Great hub Voted Up.

    • Cardisa profile imageAUTHOR

      Carolee Samuda 

      8 years ago from Jamaica

      Thank you so much Eiluv2write. Down Syndrome babies are very special and your son will continue to amaze you.

    • Eiluv2write profile image


      8 years ago from Massachusetts

      Hi Cardisa, My son is a true testament to a very beautiful child with DS. I've learned so much about DS in the past three years, but always ike to read more and meet new people in the community. Thank you for posting this!!

    • Cardisa profile imageAUTHOR

      Carolee Samuda 

      8 years ago from Jamaica

      Hello Fellow M. Not all DS children are badly deformed and many of then are very beautiful. They are the most loving children ever. I too had one in my life and I miss her terribly.

      Thanks for reading and leaving a comment.

    • Fellow Mumbaite profile image

      Fellow Mumbaite 

      8 years ago from India

      I knew a child with Down Syndrome who used to visit my child's speech therapist. He was very cute and even if few would call this to be a flaw, it never seemed to be something that would shadow his cute features. Thanks Cardisa for more info on Down Syndrome. Never knew much about it!

    • Cardisa profile imageAUTHOR

      Carolee Samuda 

      8 years ago from Jamaica

      Thank Yui. I appreciate you stopping by and leaving a comment.

    • yui lockhart profile image

      yui lockhart 

      8 years ago from Philippines

      Thanks for the Hub Cardisa! It is well written,now I am more knowledgeable enough about children with down syndromes

    • Cardisa profile imageAUTHOR

      Carolee Samuda 

      9 years ago from Jamaica

      Hey Flora. Thanks for the info about your uncle. Sorry he passed.

      What most people don't realize is that people with the condition are the most loving people they will ever meet.

    • FloraBreenRobison profile image


      9 years ago

      My uncle had down syndrome. Around the time when I was five he moved from the small town where he was living with my Grandmother to live with us-it opened a whole new world of opportunity for him because there were lots more opportunities here.He lived with us for twenty years. He was 68 when he died.

    • Cardisa profile imageAUTHOR

      Carolee Samuda 

      9 years ago from Jamaica

      You are so right beth. People with DS do better with more love and attention. They are a bit more loving and 'touchy feely' than the normal person (if you know what I mean). They tend to get attached more easily and are very trusting.

      Thanks for reading and leaving such positive comment.

    • Beth100 profile image


      9 years ago from Canada

      It is so important to understand that each individual has their own uniqueness - some traits are more apparent, as in Downs Syndrome, while others are more subtle. The most important lesson is to be understanding and treating all individuals with respect, kindness and love. Great article!

    • Cardisa profile imageAUTHOR

      Carolee Samuda 

      9 years ago from Jamaica

      Hi Capncrunch, I now work with a two year old Down syndrome child. I just love her to pieces. She is the most loving person I know. It is quite rewarding getting to know someone with the condition. I am glad you now have some idea what it is about.


    • capncrunch profile image


      9 years ago from New Orleans

      Hello Cardisa,

      Thank you for sharing. I didn't know what the causes were. Last Summer, I met a young man who was born Down Syndrome. He is 19 years old now, and what a character. He is quite a ladies man! We hit it off pretty well. Great Hub!


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