The extra chromosome present is either a full or partial copy of the chromosome 21 dubbing the condition with the alternate name of Trisomy 21. Unfortunately for the individual, the extra chromosome changes the body and brain's normal development and causes mental and physical problems (www.britannica.com).
There are many physical problems associated with Down syndrome. Some of the most common include birth defects of the heart, stomach problems, hearing problems, eye problems, thyroid problems, skeletal problems, dementia, cognitive impairments, small intestine blockages, and Celiac disease (www.cdc.gov). There is often a higher occurrence of infection for the individual as well. Their appearance separates them from others by their most distinct trait: eyes with an upward slant that stand out against their flat faces. They often have smaller features to their physique such as smaller hands, feet, and ears, a short neck, and a small pinky finger that curves towards their single-creased palm (www.cdc.gov). If you look closely into their eyes, they have tiny white spots on their iris. Their body often has poor muscle tone and loose ligaments, also known as hypotonia (www.cdc.gov). These symptoms and effects of the condition have not changed over time. Nothing as of yet can be done to change the effects of the condition in utero, but there are resources and options to help with management of the effects or treatment after birth. Surgery and medicine are treatment options for the physical problems, and the differences to their physical appearance are recognized as an effect of the condition, typically not causing them pain or the need for correction.
There are many tests that are now available to women throughout their pregnancy to determine if their child has Down syndrome. In the United States, ACOG guidelines recommend that screening be offered to all women, regardless of their age (www.acog.
