Kids with Down syndrome tend to share certain physical features such as a flat facial profile, an upward slant to the eyes, small ears, and a protruding tongue. Low muscle tone (called hypotonia) is also characteristic of children with DS, and babies in particular may seem especially “floppy.”
How do you detect Down syndrome?
Diagnostic tests that can identify Down syndrome include:
Chorionic villus sampling (CVS). In CVS, cells are taken from the placenta and used to analyze the fetal chromosomes.
Amniocentesis. A sample of the amniotic fluid surrounding the fetus is withdrawn through a needle inserted into the mother’s uterus.
What part of the body is affected if you have Down syndrome?
The effect of this extra DNA varies, but commonly people who have Down syndrome have mental disability, atypical facial structure, and physical defects, especially heart defects. They are at higher risk for developing leukemia, a thyroid problem, dementia or having trouble with their hearing or vision.
What are the different types of Down syndrome?
There are three types of Down syndrome: trisomy 21 (nondisjunction), translocation and mosaicism.
Trisomy 21, the most common type of Down syndrome, occurs when there are three, rather than two, number 21 chromosomes present in every cell of the body.
Translocation accounts for 4% of all cases of Down syndrome.
What are the symptoms and signs of Down syndrome?
Common physical signs of Down syndrome include1,2:
Decreased or poor muscle tone.
Short neck, with excess skin at the back of the neck.
Flattened facial profile and nose.
Small head, ears, and mouth.
Upward slanting eyes, often with a skin fold that comes out from the upper eyelid and covers the inner corner of the eye.