down syndrome

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Definition
  1. Noun:
    • A congenital disorder caused by having an extra 21st chromosome: Down syndrome is a genetic condition present from birth, resulting from an extra copy of chromosome 21 (trisomy 21). This genetic difference affects physical and cognitive development.
    • Results in characteristic physical features and intellectual disability: The condition is associated with a distinct facial appearance (such as a flat face), short stature, and varying degrees of intellectual impairment or developmental delay.
Usage Examples
  • Noun:
    • The baby was diagnosed with Down syndrome shortly after birth.
    • Early intervention programs can greatly benefit children with Down syndrome.
    • People with Down syndrome lead fulfilling lives with appropriate support.
Advanced Usage
  • "to have Down syndrome": This is the standard and respectful phrasing to indicate a person has the condition.
    • My cousin has Down syndrome and is a talented artist.
Variants and Related Words
  • Down's syndrome: An alternative, equally correct spelling, more common in British English.
  • Trisomy 21: The medical/technical term for the most common genetic cause of Down syndrome.
  • Congenital disorder: A broader category of conditions present at birth, which includes Down syndrome.
Synonyms
  • Trisomy 21: (Medical synonym)
  • Down's syndrome: (Variant spelling synonym)
Notes on Usage
  • Down syndrome is named after Dr. John Langdon Down, who described the condition. It is considered a standard term in medical and general use.
  • When referring to an individual, it is recommended to use "person-first" language (e.g., "a person with Down syndrome") or identity-first language as preferred by the individual or community (e.g., "a Down syndrome person"). The key is to emphasize the person, not just the diagnosis.
  • The term "mental retardation" used in the reference definition is now considered outdated and offensive. Preferred contemporary terms include "intellectual disability" or "developmental delay."
Noun
  1. a congenital disorder caused by having an extra 21st chromosome; results in a flat face and short stature and mental retardation