Tuesday, October 10, 2006

Learn About Apert's Syndrome

Apert's Syndrome also known as Apert's syndactyly is an uncommon genetic disorder characterized possibly by some of the following: cleft pallet, small nose, high forehead, widely spaced eyes, sunken midface, or other craniofacial abnormalities, as well as severe symmetrical syndactyly (cutaneous and bony fusion) of the hands and feet. The genetic mutation happens to Chromosome 10 and children are usually diagnosed at birth by physical observance of abnormalities. It isn't exactly known how frequent Apert's Syndrome is. Some sources put it as high as 1 in 65,000 births, others much lower at 1 in every 200,000 births. Apert's can be inherited from a parent with the same disorder or as a fresh mutation. Usually there is no family history of the genetic disorder. In a child without Apert's, the skull has several "plates" that loosely connect. As the child grows the bones fuse and form the adult skull. in contrast to this, Abert's causes a child's skull to prematurely fuse which restricts and puts pressure on the brain. Commonly, surgery is needed in infancy or toddlerhood to alleviate this pressure and detach the fused bones from one another. Typically other surgeries follow as well. Preadolescence (usually between ages 6-11) allows for a time of correction of the sunken midface through a procedure known as the LeFort III. This surgery may be repeated throughout one's life as needed. The third type of procedure Apert's patients undergo commonly is for correcting the fusion of the hands and/or feet.

Treatment ideally should begin at birth usually at first in the form of support through proper diagnosis by a specialist. Over their lifetime, those afflicted with Apert's will see a wide variety of specialists such as speech therapists, ophthalmologists, and craniofacial surgeons to name a few. Above all the priority should rest on preventing the build up of pressure on the child's brain, while most parents’ secondary concern is a more normal appearance.

Written by Jenny Sigler, posted with her permission

2 Comments:

Anonymous Pam Liban said...

Helo there!!!
its very nice that people are actually helping Angel. i am so happy for angel and her family. i too have a sister with Apert's syndrome. she is now 23 years old and staying with my mom. we haven't been together for 16 years now. back when my sister was still here with us in the philippines, we had a really hard time. there were no blogs... no email... im glad that technology had a hand on this. i wish Angel and her family all the best!!!! i am taking my thesis this year and my topic is about Apert's syndrome. i am dedicating this to my sister. Best wishes!!!

11:42 AM  
Blogger Allison said...

Welcome Pam, thank you for posting! We wish you the best of luck with your thesis this year, and we send our good wishes to your sister!

1:50 PM  

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Goal for helpbabyangel -
Paying Angel's diapers, bandages, formula, etc, and
to bring Angeleah's mom, Eva,
to U.S. for the surgeries (This doesn't include money donated earlier that was
used for Angel's and Pol's Visas and for their travel
to Manilla to get the VISAS. )