Down Syndrome

Kacy Watts

What is it?

Down Syndrome is a congenital disorder arising from a chromosome defect, causing intellectual impairment and physical abnormalities including short stature and a broad facial profile. It arises from a defect involving chromosome 21, usually an extra copy.

What causes it?

Down syndrome is a genetic disorder in which, most often, a third copy of chromosome 21 is present in cells because of an abnormal cell division when the egg and sperm first meet.

Can it be prevented?

There is no way to prevent Down Syndrome. Typically, if you already have had a child with Down Syndrome their is a very high risk that the second child will also.

What are the symptoms and effects of the condition?

Down Syndrome may cause delayed development, speech delay in a child, lazy eye, difficulty thinking and understanding, bent little finger, congenital heart disease, displacement of the tongue, excess skin on the back of the neck, flaccid muscles, hearing loss, immune deficiency, low-set ears, mouth breathing, obesity, polycythemia, single line on palm, thickening of the skin of the palms and soles, and thyroid disease.

How can it be detected?

  • Screening tests, such as an ultrasound or a blood test during your first or second trimester.
  • Diagnostic tests, such as chorionic villus sampling or amniocentesis.
  • What are the treatment options?

    The best way to treat Down Syndrome is with regular speech therapy, exercise, support group, special-education, and talking to a doctor.