What is Apert Syndrome?
Apert Syndrome, first described in 1906 by E. Apert, is a genetic defect
that can be either inherited by a parent with the mutation or a spontaneous mutation. People with Apert usually
have much of the same facial and limb characteristics because it is a craniofacial disorder. Apert Syndrome is a genetic mutation.
Some examples of the features associated with Apert are fused fingers and toes, along with other abnormalities on the skull,
forhead, hands, and feet. Many other disorders and health problems also have been specifically linked to people with the syndrome.
Apert Syndrome appears in 1 per 160,000 to 200,000 births a year.
The skull of a normal person has plates that grow and come together over
time, but the skull of a person with Apert is already bonded together at birth, causing less space for the brain to grow,
which creates unwanted pressure. While people with Apert Syndrome's lower part of the face grows normally, the upper
midface grows much slower, causing the midface to retrude. Some procedures have been invented to help lessen the
pressure the skull bones put on their brains. A surgery called The LeFort III is used to help pressure. The surgery is usually
performed after the bones on the face stop growing.The LeFort III detaches the facial bones in the upper part of the
face and spaces them out, reducing the presser put on the brain. There also is a newer procedure than the LeFort III, which
some doctors prefer. The procedure is called Rigid External Detraction (RED) System.
The fusion of fingers and toes often found in people with Apert are usually joined
tissue, and sometimes even bones, on your first three fingers.This feature causes them to loose much of thir mobility
in their fingers and toes. People with the syndrome can have a varying number of fingers attached and detached. Surgery is
used to help seperate the thumb from the hand, creating better mobility. In most cases surgery for fused limbs is just
used on the hands, not feet.
Parents with Apert Syndrome oviously have a 50% chance in passing the
mutation on. Apert Syndrome is also a recessive trait, which means an unaffected child of a parent with the syndrome, has
the same chance as passing on the trait as any body else. It also means that you are not more likely to have another
child with Apert than anyone else if you already have a child. Also studies have shown that you are more likely
to have Apert, if you have an older father. Apert Syndrome is a mutation found on the 10th chromosome. The change in the gene
is so small and minor, but still causes the syndrome.
Why should you care about Apert Syndrome?
You should care about people suffering from Apert Syndrome because the mutations
they are born with make their lives so much more difficult than anyone could imagine. People with the syndrome often have
to go through many surgeries just to get a thumb that works. Apert Syndrome also leads to so many other health problems. Since
people with this syndrome have multiple health problems, it requires many more exspensive surgeries just to live a comfortable
life or just to live.
How can you help?
You can help by donating to the Apert Syndrome Foundation. The money you donate will
go towards research to cure this mutation. Your donation also goes towards people suffering from Apert who cannot afford to
pay all their medicine bills. By giving to the Apert Syndrome Foundation you can help someone live.
Can we help if you know someone who has Apert Syndrome?
Yes, we can help you. There are many other familes with someone they love suffering
form Apert. You can go to a family support group to talk and discuss with other people dealing with the syndrome. FACES is
an orginization that can also help your loved one. FACES has information on the best doctors for many craniofacial diseases.
