What are the Symptoms of Down Syndrome?

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  • Written By: wiseGEEK Writer
  • Edited By: O. Wallace
  • Last Modified Date: 13 March 2020
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There can be many different symptoms of Down syndrome, and these will be expressed to greater or lesser degree in children who have the condition. Not every child has every symptom, and some may have a preponderance of symptoms that make the condition extremely serious. It may help before discussing symptoms to learn a little bit about this chromosomal condition.

Down syndrome is also known by the name trisomy 21, and occurs when the fetus inherits three instead of two copies of the 21st chromosome. The may be detected in utero or it might be diagnosed after a baby is born. Sometimes children have mosaic Down Syndrome, where they only have the abnormal third chromosome in some of their cells, and these children may occasionally have fewer symptoms of Down syndrome, though this is not always the case.

The symptoms of Down syndrome usually include cognitive impairment, which may be expressed as mental retardation. This may be mild or it can be more severe. Down syndrome shouldn’t be understood as only affecting cognition. It also can present with severe birth defects or health conditions. Of birth defects, heart defects are most common, though many of these are not complex and can be repaired. Health problems that could be present include disorders of the thyroid or gluten intolerance, and may include any other health problems that could affect a child without trisomy 21.


People may comment on the symptoms of Down syndrome that affect appearance. Children usually are shorter, and have shorter limbs. They may have shorter, wider necks than others. Facial appearance may be one of the hallmarks of Down syndrome. The forehead is high, the ears are lower and smaller, and the eyes may be widely set apart or appear so because the nose is flatter. Irregularities that may or may not present include unusual teeth arrangement and changes to the way the palate is shaped.

In addition to the above symptoms of Down syndrome, one that may be noted right away by parents is muscle weakness. These tend to improve especially with some physical therapy. Yet the first few years of life could be marked by not reaching developmental milestones for gross and fine motor skills, until the muscles get stronger.

Diagnosis of this condition is made fairly easy by the symptoms of Down syndrome. This is fortunate since early intervention may be key to helping a child develop to the best of his or her ability. Many children respond very well to various forms of therapy and interactive play, and it should be noted that lots of people with this condition can do very well, hold jobs, live alone or in group homes, and live well into middle or later adulthood. Giving the best start by early recognition of symptoms greatly improves the chances of these children having full and happy lives.



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