How Familiar Are You with These Common Medical Conditions?
4. What is the name of the chromosomal disorder resulting in developmental delays and a distinctive facial and bodily appearance, named after the doctor who first disordered it in the 1860s?
Correct Incorrect Down syndrome was named after John Langdon Down, the British doctor who initially characterized the disorder in 1862. In a paper released in 1866, Down recognized a cohort of children under his care at Earlswood Asylum in Surrey, England, exhibiting a unique form of intellectual disability that resulted in a shared physical appearance. He coined the term "mongoloid" to describe this characteristic look. Down was adhering to the racial classification system introduced by Johann Friedrich Blumenbach, which was prevalent at the time. He probably never realized that his utilization of the term would ignite a debate within the scientific community almost a century later. By 1959, French geneticist Jérôme Lejeune had identified the cause of the disorder as the presence of an extra 21st chromosome. In 1961, a group of geneticists urged a distinguished medical journal to discard the term "mongolism" and propose an alternative. They highlighted that "the increasing participation of Chinese and Japanese investigators in the study of the condition imposes on them the use of an embarrassing term." The editors of "The Lancet" concurred and endorsed the term "Down's syndrome." Today, references to "mongolism" are rare, with most textbooks and scientific journals adopting the non-possessive terms "Down syndrome" or "trisomy 21" to denote the disease.