Down syndrome is a group of mental and physical symptoms that occurs when a person has an extra copy of Chromosome 21.
Once an egg is fertilized by a sperm, the new combination already has 23 pairs of chromosomes. In Down syndrome, however, there is presence of an extra copy of Chromosome 21. This is sometimes called trisomy 21 because there are three copies instead of having two copies of this chromosome. As a result, this can affect the body's and brain's normal development.
The chance of having of the baby developing the condition increases as a woman gets older. Many healthcare providers recommend that women over age 35 have prenatal testing for the condition. Testing the baby before it is born to see if he or she is likely to have Down syndrome allows parents and families to prepare for the baby’s special needs.
Parents who have already have a baby with Down syndrome or who have abnormalities in their own chromosome 21 are also at higher risk for having a baby with Down Syndrome.
Signs and Symptoms
Signs and symptoms of Down syndrome ranges from mild to severe. Commonly, mental and physical development are slower in those people with the condition.
Some common physical signs of Down syndrome include:
- Flat face with an upward slant to the eye, short neck, and abnormally shaped ears
- Deep crease in the palm of the hand
- White spots on the iris of the eye
- Poor muscle tone, loose ligaments
- Small hands and feet
Sometimes other health problems may be seen in people with the condition including:
- Congenital heart disease
- Hearing problems
- Intestinal problems, such as blocked small bowel or esophagus
- Celiac disease
- Eye problems, such as cataracts
- Thyroid dysfunctions
- Skeletal problems
- Dementia—similar to Alzheimer’s
Unfortunately, there is no cure for Down syndrome. However, many people with the condition can live productive lives with early intervention.
Children with Down syndrome can often benefit from speech therapy, occupational therapy, and exercises for gross and fine motor skills. They might also be helped by special education and attention at school. Many children can integrate well into regular classes at school.
Information courtesy of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)