Medical Questions » Syndrome Questions » Question No. 974
| Question: | A very good friend of mine in England has told me in her last letter that her new baby has Down' s syndrome. Can you please tell me about this condition, and how serious is it? |
| Answer: | Down' s syndrome and ' mongolism' are one and the same thing.
It is a chromosomal defect that occurs at the moment of conception as the sperm and egg join. Chromosomes are the incredibly small strings of protein inside the nucleus of a cell that carry the genes. Genes determine every function and appearance of your body.
When the woman' s egg is fertilised by a sperm, the chromosomes from the mother and father come together. Rarely, the chromosomes break and rejoin inappropriately, or extra chromosomes may form.
Many different conditions can result from this occurrence, and Down' s syndrome (also known as Trisomy 21 because chromosome number 21 is triplicated) is one of the more common syndromes caused in this way.
The characteristics of the syndrome include mental retardation, flattened facial features, small stature, protruding tongue and several other internal problems.
It occurs more commonly in mothers over 40 years of age, and special tests can be performed before birth to detect the condition if there is a significant degree of suspicion.
There is no treatment available other than special education, physiotherapy and other paramedical services.
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