What is Down Syndrome primarily characterized by?

Down Syndrome is primarily characterized by a genetic mutation that affects both physical and intellectual development. This condition is typically caused by an extra copy of chromosome 21, known as trisomy 21. Individuals with Down Syndrome often present with distinct physical features, such as a flat facial profile, slanted eyes, and a single transverse palmar crease. In addition to these physical traits, Down Syndrome can also lead to a range of intellectual disabilities, which may affect the learning and cognitive abilities of individuals with the condition.

The presence of the extra chromosome disrupts typical development pathways, resulting in various developmental milestones being reached at different rates compared to typically developing peers. This genetic basis is fundamental to understanding the challenges and strengths that those with Down Syndrome may experience throughout their lives.