What is Down's syndrome?
Down's syndrome or Trisomy 21 is a genetic disorder. It occurs in approximately 1 of 800 live births. There are mild to moderate learning disabilities, developmental delays, distinctive facial features, and low muscle tone when they are very young. Many individuals with Down's syndrome might also have heart defects, leukemia, early-onset of Alzheimer's disease, gastro-intestinal problems, and other health issues. The symptoms can range from mild to severe.
Why does Down's syndrome occur?
Down's syndrome is the result of an extra copy of chromosome 21. There are 23 sets of chromosomes in the average, healthy person, with two chromosomes present per set. Therefore, people with Down's syndrome have three chromosomes 21, and 47 chromosomes in total, as opposed to the 46 found in most people. Down's syndrome is the result of this extra cell.
How many types of Down's syndrome are there?
There are three identified types of Down's syndrome: Down's syndrome due to non-disjunction, mosaicism, and translocation. In non-disjunction and mosaicism, there is an extra copy of the chromosome; in translocation, a piece of one of the original chromosome 21 breaks off and attaches itself to another chromosome. By far, the most prevalent type of Down's syndrome is due to non-disjunction, which accounts for approximately 95% of the incidence of the syndrome.
What are the early signs of Down's syndrome in an infant?
These signs occur in up to 80% of all cases. If the baby displays 6 to 10 of the below-mentioned signs, then it is almost certain that the baby has this syndrome.
• The eyes have an upward and outward slant
• There is a fold of skin on the inner side of the eye
• The eye slit is narrow and short
• Small, white patches can be seen on the edge of the iris
• The face has a flat appearance
• The head is smaller than average
• The soft spots on the head (fontanels) are larger than normal because the baby is growing more slowly
• The ears are smaller and lower-set
• The mouth is small and the lips are thin, which leads to the tongue sticking out as the inside of the mouth is smaller
• The neck appears slightly short and loose folds of skin are seen at the back and sides (these go away as the baby grows)
• The legs and arms are short in relation to the body
• The hands are broad and flat with short fingers, the little finger slants inward, and there is a single crease across the palm
• The feet are broad with short toes and there is a larger space than typical between the big toe and the other toes
• There is poor muscle tone (hypotonia) and loose-jointedness (hyperflexibility)
• Reflexes tend to be weaker and the cry is weak