John Langdon Down was a British doctor who first described the pattern that would ultimately bear his name in 1866. However, aspects of Down Syndrome had been described as early as 1838. This genetic condition is the most common of the inheritable abnormalities, and it has been around since the beginning of time.
Down Syndrome, also called Trisomy 21, occurs when there is an extra copy or part of the 21st chromosome. This happens when the chromosome fails to separate properly during cell division in the egg or sperm. In about 88% of cases, the error occurs in the egg, while about 8% of cases are due to sperm-related issues. The remaining 3% occur after fertilization.
Babies with Down Syndrome have characteristic facial features, developmental delays, and intellectual disabilities. They often have a small chin, slanted eyes, a large tongue, extra space between the first and second toes, and a flat, wide face. Their growth in height is slower compared to typical development, and they may have irregular speech patterns. Individuals with Down Syndrome also face a higher risk of hearing and vision issues, but have lower rates of certain cancers due to extra tumor-suppressing genes.
While many parents choose to terminate a pregnancy after learning their child has Down Syndrome, others go on to raise children who grow up to be loving, contributing members of society. Many people with Down Syndrome can hold jobs and lead fulfilling lives, demonstrating the importance of embracing differences.
