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Clinical

Syndromes: Down’s syndrome

Second in a series about conditions with common symptoms that constitute syndromes
Down’s syndrome

Down’s syndrome, which was first described in 1866 by Dr Langdon Down – also referred to as trisomy 21 – is the most commonly recognised chromosomal abnormality due to the presentation of distinct facial features associated with the syndrome.

It is also one of the most common causes of learning disability with a prevalence of between one in 546 to one in 728 live births in Ireland, England and Wales and the United States (Murphy et al 2005, Wu and Morris 2013, Morris and Springett 2014, Centers for Disease Control and Prevention 2017).

Improved life expectancy

Life expectancy has improved significantly for people with Down’s syndrome due to improvements in education, medical and surgical interventions and better access to healthcare (Sheets et al 2011).

  • Down’s syndrome is a condition that is recognisable at birth due to the distinct facial
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