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Down Syndrome Information

Down syndrome or trisomy 21 is a genetic condition resulting from the presence of all or part of an extra 21st chromosome. Down syndrome is characterized by a combination of major and minor abnormalities of body structure and function. Among features present in nearly all cases are impairment of learning and physical growth, and a recognizable facial appearance usually identified at birth. Many other organ systems may be affected as well. It is named after John Langdon Down, the British doctor who first described it in 1866.

While most children with Down syndrome have a lower than average cognitive function, some have earned college degrees with accommodations, and nearly all will learn to read, write and do simple mathematics. The common clinical features of Down syndrome include any of a number of features that also appear in people with a standard set of chromosomes. They include a simian crease (a single crease across one or both palms), almond shaped eyes, shorter limbs, heart and/or gastroesophageal defects, speech impairment, and perhaps a higher than average risk of incidence of Hirschsprung's disease. Young children with Down syndrome are also more prone to recurrent ear infections and obstructive sleep apnea.

Early childhood intervention, screening for common problems, such as thyroid functioning, medical treatment where indicated, a conducive family environment, vocational training, etc., can improve the overall development of children with Down syndrome. On the one hand, Down syndrome shows that some genetic limitations cannot be overcome. On the other, it shows that education can produce excellent progress whatever the starting point. The commitment of parents, teachers, and therapists to individual children has produced previously unexpected positive results.

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