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Down Syndrome Symptoms, Causes & Prevention

Down syndrome is the most common genetic disorder that causes the differences in learning abilities and specific physical characteristics. Until now, experts do not know the exact cause of Down syndrome. Down Syndrome is a chromosomal abnormality on chromosome 21 where an increase in the number of chromosomes. Down syndrome can not be cured, but with the support and maximum attention, children with down syndrome can grow happily. 

As one of the most common genetic disorder, Down syndrome have certain characteristics and symptoms, which makes it very easy to recognize. Although not all people with Down syndrome have the same characteristics and symptoms, but the characteristics and symptoms of Down syndrome are so common that sufferers have nearly the same physical characteristics. Data from the World Health Organization estimates, the number of people with Down syndrome is 1 in 1,000 live births in the world. Each year, it is estimated there are at least 3,000 to 5,000 babies are born with this chromosomal abnormality.



Down syndrome symptoms & characteristics

Symptoms of down syndrome in children is to have several physical characteristics that are similar, but they are not exactly the same because there are hereditary factors of parents and their families. Children with Down syndrome need guidance like a normal kid, or even more. Their development in various aspects takes time, and they would have taken it gradually, according to their abilities.

As quoted from mayoclinic, about 4% of children with down syndrome have two copies of the full and 1 partial copy of chromosome 21, which is attached simultaneously on different chromosomes, called translocation down syndrome. Translocation down syndrome is the only type of down syndrome, which can be derived from one of the parents. However, only one third of cases of Down syndrome tranlokasi inherited from either parent.

Chance of a baby being born with Down syndrome, can be detected by screening and antenatal testing. As for diagnosis, this step can be performed when the fetus is still in the womb or through a blood test after the baby is born.

There are some physical characteristics similar to children with Down syndrome, but the characteristics of parents and the family also play a role in their physical appearance. Physical characteristics of people with Down syndrome, the most common are as follows:

  • Eyes slanted upward and outward.
  • The weight and length at birth below average.
  • Reduced muscle tension as hypotonia.
  • Palms have only one crease.
  • Small nose and flat nasal bone.
  • Small head and flat on the back.
  • Tongue protruding out.
  • Ear shape is not normal or small.
  • Excessive muscle tone.
  • White spots on the cornea.
  • The distance between the first and second toes quite extensive.
  • Small mouth.
  • Width hands with short fingers.
  • Short stature.
  • Short neck.

The cause of down syndrome

Normally, each people's cell have 46 chromosomes inherited, which was respectively 23 chromosomes from the father and mother. Chromosome is a collection of DNA and contains detailed instructions genetic factors that affect broad, such as eye color, sex of the baby, and the progress of each cell of the body. Someone potential to have Down syndrome, if the chromosomes derived reached 47. The development of the body and the brain's performance would change if there is an extra chromosome. People with Down syndrome, all or some of the cells in their body have 47 chromosomes because there is an extra copy of chromosome 21. This extra genetic material causes physical characteristics and growth associated with Down syndrome.

Factors which obviously increases the risk of having a baby with Down syndrome is the age of the mother during pregnancy. Women who are pregnant at the age of 20 years have a risk of 1 to 1,500. If the pregnancy was delayed 10 years, the risk increased and became one appeal 800. And if 10 years delayed again so pregnant at age 40, the risk is 1 in 100. However, this does not close the possibility of a higher risk for all stages of pregnancy.

Women over 35 years old have a higher risk of having children with Down syndrome conditions, especially if the sperm obtained are of men aged 40 years and older. Women who have had a child with Down syndrome are also more at risk of having a baby with this condition in subsequent pregnancies.

In addition to risk factors of age, there are other factors that can increase the risk of having a baby with Down syndrome, among whom are descended. Although rare, the type of translocation Down syndrome can be passed down from parent to child. Gender carrier translocation Down syndrome affects the chance of inheriting this condition in children.

Prevention efforts of down syndrome

To avoid the possibility of down syndrome, then pregnant women need to prepare themselves physically and psychologically in order to take care of the fetus and the baby later happily. There are some prevention efforts so that the baby is not affected by Down syndrome that can be done by pregnant women:

  1. Check-up with a partner before marriage, to determine the health and tendencies of each.
  2. Trying to get pregnant at that age is not too young (under 20 years) and not too old (over 35 years).
  3. Check trimester of pregnancy on a regular basis since the beginning, and work with an ultrasound examination.
  4. Maintain a healthy lifestyle during pregnancy, before and after childbirth. Healthy lifestyle among which are, looking for a healthy environment, away from air pollution, smoking cessation, regular exercise, and cultivate themselves always happy and away from stress.
  5. Maintain a healthy diet, nutritional needs and nutritional balance. Avoid foods that contain dyes, flavorings, and chemical preservatives. Moreover, women also need to increase the intensity of the meal and vitamins, for her health and the baby.


Down syndrome is a chromosomal disorder that causes mental retardation in children. This disorder usually appears since the mother's womb. Early detection of Down syndrome can be performed in pregnant women with a blood test and amniotic fluid called antenatal tests.




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