Down syndrome is caused by the presence of an extra chromosome 21, resulting in three copies (trisomy 21) rather than the typical two copies. Individuals with Down syndrome may have some distinctive physical features like a flattened face, slanted eyes, and small hands and feet. The condition does not require medical treatment as it is not a disease, but some associated health issues may need to be monitored. Down syndrome can be detected during pregnancy through advanced ultrasound examination or by analyzing the mother's blood sample. It is not an infectious condition and risk increases with the age of the mother.