Apert Syndrome :: essays research papers fc

Apert Syndrome (AKA Alport syndrome) is a componenttic defect which can be inherited from a parent who has Apert or a fresh mutation. It falls under the openhanded classification of craniofacial/limb anomalies. Approximately 1 per 160,000 to 200,000 live births inherit it. whatever symptoms that Apert sufferers have are various heart defects, ear infections, severe acne, increase incidence of eye injuries, and many more. The skull is prematurely fused and unable to induce sanely, and the fingers and toes are fused together in varying degrees.If your infant gets Apert Syndrome they may have many visible defects as well as a few other problems such as slower learning, a cracking palate, vision problems, and problems with acne during puberty. I dont think Apert Syndrome children die, expecially because you can come Apert through genetics. A child with Apert Syndrome could live a pretty normal life.The mutation which causes Apert Syndrome is found on chromosome number 10 calle d Fibroblast Growth reckon Receptor 2 (FGFR2). You have two copies of this gene, one from the mother, one from the father, which is composed of a string of about 2000 of the chemical building stoppages that make up the genetic material called DNA. When Apert Syndrome occurs, just one particular building block in one of these two gene copies has been exchanged for another. The other gene is entirely normal. The one tiny change in FGFR2 results in the physical features of Apert Syndrome.There is no link between anything the mother does or doesnt do during her pregnancy to cause Apert. Doctors believe Apert Syndrome occurs when a gene mutates wee in the pregnancy. The chances of having a second child with Apert are almost non-existent. thus far if one parent has Apert Syndrome there is a 50% chance that their child will also have Apert Syndrome. And studies have shown that Apert occurs more often to babies with sr. fathers.