What is Down Syndrome?

Every year, one child in every 800 to 1,000 births willthe physical and/or developmentally delayed
be born with a condition known as Down syndrome.characteristics of those born with the other two
Down syndrome is a disorder in which the child hasforms of Down syndrome.
extra genetic material. This extra genetic materialCommon Physical Traits
causes the baby to develop differently in the womb.Babies with Down syndrome are usually diagnosed at
This abnormal development occurs during the earlybirth or shortly thereafter. Because Down syndrome
stages of cell division, soon after conception.affects a child physically, there will be certain features
There is no known reason for Down syndrome or athat an alert doctor or nurse will pick up on. Most
cure for it.children with the syndrome will have some or all of
The disorder came by its name when an Englishthese traits.
physician, John Langdon Down, published a descriptionAmong the most common physical characteristics are:
of the characteristics of a person with the condition- Low muscle tone
in 1886. Since Dr. Down was the first person to give- Small nose and flat nasal bridge
the syndrome a name, the disorder is known as- An upward slant to the eyes (almond shaped)
Down syndrome.- Small skin folds on the inner corner of the eyes
The Common Forms of Downs- Tongue large for size of child's mouth
There are three distinct forms of Down syndrome.- Small, sometimes abnormally shaped ears
The most common form is Trisomy 21. This is when- A single crease across the center of the palm
a child has an extra chromosome 21.- Fifth finger, the pinky, has only one crease instead
Instead of having 46 chromosomes in each cell (23of two
from the father and 23 from the mother), he has 47.- Larger than normal space between the large and
Ninety-five percent of children born with Downsecond toe
syndrome have Trisomy 21.- Joints are hyper flexible, able to extend greater
Translocation is another form of Down syndromethan average
and makes up 3 to 4% of the population of peopleThese physical traits are characteristic of a baby with
with the disorder. Translocation occurs when part ofDown syndrome, but in order to determine if a child
chromosome 21 breaks off and attaches to anotherdoes indeed have the disorder, a chromosome
chromosome, changing the genetic makeup. In thisanalysis will need to be performed.
form of Down syndrome, each cell has the normal 46This is done by taking blood from your baby and the
chromosomes, but there is extra genetic materialanalysis will be done in a laboratory. Your doctor will
from the broken off chromosome.notify you of the results.
The third and final form is called Mosaicism, and is theBy Jane Orville
rarest form of Down syndrome, occurring in only 2%Jane Orville is the mother of a 17 year old Daughter
of all cases. Mosaicism happens when some of thewith Down Syndrome and has spent years
cells in the forming embryo have 46 chromosomes,researching and compiling all the wisdom she has
and some have 47. Thus, the alternating patterngained into a simple guide to assist parents deal with
gives it the name Mosaicism.the concerns of raising a child with Down Syndrome.
People with Mosaicism may not be as affected with