- The symptoms described, such as short stature, small round head, furrowed tongue, and developmental delays, are characteristic of Down syndrome, which is caused by trisomy 21.
- Turner syndrome is a condition affecting females with only one X chromosome, leading to short stature and ovarian dysfunction.
- Edward syndrome is caused by trisomy 18 and is associated with severe developmental and physical disabilities.
- Klinefelter syndrome is a condition in males with an extra X chromosome, leading to infertility and physical differences.