Down Syndrome

Question 1

Etiology

Answer 1

When chromosome 21 is involved in abnormal cell division, the result is
Down Syndrome.

Question 2

prevalence

Answer 2

1 in 700 to 1 in 1,1000 to 1 in 1,100 live births a year, worldwide

Question 3

key characteristics

Answer 3

. Round, lfattened face, especially the bridge of the
nose
2. Almond-shaped eyes that slant up
3. Short neck, small ears and small hands and feet
4. A tongue that tends to stick out
5. Poor muscle tone or loose joints – “Floppy”
6. Shorter in height as children and adults
7. Atlanto-axial instability (bones in the neck are prone
to slipping and compressing the spinal cord)
8. May experience “accelerated aging” often beginning in
the 40s or 50s – life expectancy is about 60 years old
Risk of early onset Alzheimer’s or dementia
9. Almost 50% of babies born with down syndrome have
heart disease. 75% of people with Down Syndrome
have some hearing loss
10. Hypothyroidism is very common