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What is Down syndrome and the facts and symptoms you should know

 What is Down syndrome and the facts and symptoms you should know

What is Down syndrome and the facts and symptoms you should know 

Down syndrome is a genetic condition that slows mental and physical development. Statistics from the National Down Syndrome Society indicate that one in every 691 children is born with this condition.

Children with Down syndrome

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

It is usually diagnosed soon after the baby is born, in most cases in hospital. If your baby was not born in the hospital, you should take your baby immediately to a doctor or hospital to be examined. There are signs that tell you that your baby may have the extra chromosome. Although there are physical characteristics that may determine whether a child is born with this condition, chromosomal studies, called keratotype, must be performed to give a final 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. You will notice that the muscles are flexible and appear relaxed. All muscles of the body will be affected. This is one of the symptoms in newborns that usually alerts doctors to check for Down syndrome.

2. Face: The child’s face is slightly wider than usual and the bridge of the nose is flat. Children with Down syndrome usually have smaller noses than normal children. The eyes are crossed or tilted upward (oblique palpebral fissures). They also have small folds of skin at the inner corners of the eye, called epicanthal folds. The iris contains light spots called brushfield spots. It does not affect the child's vision. A small mouth may indicate Down syndrome and the roof of the mouth may be shallow. If the child has low muscle tone as well as a small mouth and a shallow roof, the tongue protrudes and appears too large for the mouth. The child's teeth are delayed in developing, and when this happens, they may appear sparse and pointy. The child's ears are small, sometimes there are no earlobes or they are very small. The ear canal is also small but improves as the child grows.

3. The baby's head is smaller than usual and the neck is shorter and fatter. There are loose folds of skin at the back of the neck, but they usually disappear with growth.

4. The baby will be the same size and length as other babies, but he will not grow as quickly as other babies. Doctors will monitor your child's growth and weight to make sure he or she is gaining weight and growing the way he should.

5. The hands are smaller and the fingers are shorter, but the feet are usually normal, but there is a gap between the first and second toes.

6. Other physical symptoms are a funnel-shaped chest, sensitive skin, mottled skin, and soft, fluffy hair that may fall out in some places.

7. The only thing that affects the child’s physical development is the decrease in the child’s muscle strength. The child will need to undergo a series of treatments to aid development as there will be a degree of intellectual disability.

Prenatal diagnosis of Down syndrome

In recent years there have been advances in screening such as prenatal screening. A woman can now know before her child is born whether her child suffers from this disorder. There are two tests that have been developed to find out whether your baby will be born with Down syndrome or not.

1. A screening test that will assess or estimate the risk of your child being born with Down Syndrome. It is not a final exam. This is called a triple screen and combines three tests. There are substances in the blood that are examined between the first fifteen to twenty weeks of pregnancy. An ultrasound scan is also performed to see if there are any unusual physical characteristics of the fetus that may identify Down syndrome. These tests are not 100% accurate and frequent misdiagnosis occurs.

2. There are also three diagnostic tests. (1) The first is chorionic villus sampling where a needle or catheter is used to collect samples from the placenta for a biopsy to determine if there is any change in the genetic disorder. This is especially true if you have a family history of genetic diseases. This test is performed between weeks 8 and 12 of pregnancy. (2) Between the twelfth and twentieth weeks of pregnancy, amniocentesis is performed. This is where the amniotic fluid is tested for chromosomal defects. (3) Next is percutaneous umbilical blood sampling (PUBS) which is performed after 20 weeks of pregnancy. A sample of the baby's blood is taken from the umbilical cord with a thin needle through the mother's abdomen. Diagnostic tests are more specific and usually very accurate.


If you know or have a child with Down syndrome, do not keep them away from the community. Let them be part of the regular school system or activities. It is known that children with disabilities develop faster if they are treated equally with other children.