Down syndrome is a congenital condition (i.e. a condition existing at or before birth that may have a genetic or environmental cause). Down syndrome is caused by the presence of an extra full or partial copy of chromosome 21 in an individual’s cell nuclei. It was first reported in 1866 by Dr. John Langdon Down and is characterized by a number of physical and cognitive symptoms, which the National Institutes of Health details here.
Other terms commonly used to refer to people with Down syndrome are intellectually disabled, developmentally disabled or a person who has a cognitive disability or intellectual disability. The Global Down Syndrome Foundation considers all of these terms acceptable, while the National Down Syndrome Society suggests using cognitive disability or intellectual disability.
The proper term for the disorder is Down syndrome, not Down’s syndrome or Down’s Syndrome. Use people-first language, stating that someone is a person with Down syndrome or has Down syndrome. Avoid using terms such as suffers from or afflicted with in association with the condition.
The terms intellectually disabled, developmentally disabled, cognitive disability and intellectual disability are acceptable when used in a people-first context to describe someone with Down syndrome, such as the person has a developmental disability. However, it is more accurate to refer specifically to Down syndrome when that is the medically diagnosed condition.
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