Table of Contents
Down syndrome is a condition in which extra genetic material causes delays in the way a child develops, and often leads to learning difficulties. It affects 1 in every 800 babies born.
Down syndrome is a disorder that includes a combination of birth defects. The most common of these are:
- Learning difficulties and a low IQ.
- Characteristic facial features. A child with Down syndrome will usually have eyes that slant upward and small ears that may fold over a little at the top. The child's mouth may be small, making the tongue appear large and nose may also be small, with a flattened nasal bridge. Some babies with Down syndrome have short necks and small hands with short fingers and, due to less muscle tone.
- Heart defects. Almost half of babies with Down syndrome have heart defects, of which some are minor and may be treated with medications, while others may require surgery. That is why all babies with Down syndrome should be examined by a pediatric cardiologist, a doctor who specializes in heart diseases of children, and have an echocardiogram in the first 2 months of life so that any heart defects can be treated.
- Increased infections. Children with Down syndrome tend to have many colds and ear infections, as well as bronchitis and pneumonia. They also are at increased risk of thyroid problems and leukemia
- Intestinal malformations - About 10 percent of babies with Down syndrome are born with that some intestinal malformations that require surgery soon after birth.
- Problems with vision and hearing. Common visual problems associated with Down syndrome include crossed eyes (amblyopia), near- or far-sightedness and cataracts. Most can be improved with glasses, surgery or other treatments.
- Other health problems…
Genetic abnormalities
Normally, each egg and sperm cell contains 23 chromosomes. The union of these creates 23 pairs, or 46 chromosomes in total. Sometimes, although the reasons are still unknown, an accident occurs when an egg or sperm cell is forming, causing it to have an extra chromosome number 21. This is Down syndrome! So, the bottom line is that Down syndrome is nothing more than one chromosomal abnormality characterized by the presence of an extra copy of genetic material on the 21st chromosome, either in whole (trisomy 21) or part (such as due to translocations).
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