Down syndrome, named after John Langdon Down, occurs when there is an extra chromosome on the 21st set, resulting in various physical and health characteristics. About 1 in 691 births in the U.S. has Down syndrome, with around 6,000 babies born each year, primarily to mothers under 35. Common health issues include heart defects, vision problems, and hearing issues, with various physical traits such as almond-shaped eyes and low muscle tone.