Apert+Syndrome

Apert Syndrome  ** Description:  ** Apert syndrome starts early. As a baby your skull is open, a baby with apert syndrome has it skull close early. With this it deforms the skull and face. Also containing apert syndrome you have a chance of bone fusion. This has you hands and feet fuse together, they look like they have webbed feet and hands (like a duck’s foot). The eyes of an apert syndrome child looks bulgy and are slightly side-spaced and are tilted downwards very abnormally at the sides.  Apert syndrome is not passed down. It is a mutation that occurs when the sperm cell meets the egg cell. When the baby is in the stomach, chromosome 21 is mutating. There is only about a one out of a 88000 chance of getting this syndrome.
 * Inheritance: **

 **Symptoms: ** Some of the symptoms are: Short height, hearing loss, early closure of the skull, frequent ear infections, webbing of feet and hands, bulging eyes, and under-development of mid-face.

**Daily Life: ** There is a ton of treatment that they need to take because of the surgery they take to correct the abnormal bone growth of the skull, mid-face, and jaw area <span style="color: black; font-family: 'Arial','sans-serif'; font-size: 11pt;">. They spend a couple days a week in the hospital. They are usually in constant pain. Most do live a normal life span. <span style="color: black; font-family: 'Verdana','sans-serif'; font-size: 11pt;"> **<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Diagnosis: ** <span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">It is diagnosis by a mutation when the sperm cell and egg cell meet. The mutation is in the gene FGFR which becomes after the mutation FGFR2.

<span style="font-family: 'Times','serif'; font-size: 12pt;"> **<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Treatment: **<span style="font-family: 'Times','serif'; font-size: 12pt;"> <span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Apert syndrome needs surgery to correct the abnormal bone growth of the skull, mid-face, and jaw area <span style="color: black; font-family: 'Verdana','sans-serif';">.

<span style="font-family: 'Times','serif'; font-size: 12pt;"> **<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Research: **<span style="font-family: 'Times','serif'; font-size: 12pt;"> <span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">There is research going on. They are trying to find how gene FGFR is mutating, and is it possible to stop the mutation or reverse it.

**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Additional Facts: ** <span style="font-family: 'Times','serif'; font-size: 12pt;">Apert syndrome is a terrible syndrome. The worst part is the fusion of the feet and hands. <span style="font-family: 'Times','serif'; font-size: 12pt;">They have slower learning rates than normal people. The surgery mainly occurs when they are younger.

<span style="font-family: 'Times','serif'; font-size: 12pt;"> **<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Punnett Square: **<span style="font-family: 'Times','serif'; font-size: 12pt;"> <span style="color: black; font-family: 'Times New Roman','serif'; font-size: 12pt;">There would not be a punnett square because the syndrome is caused by mutation.

<span style="font-family: 'Times New Roman','serif'; font-size: 12pt;"> **<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Pedigree Chart: **<span style="font-family: 'Times','serif'; font-size: 12pt;"> <span style="color: black; font-family: 'Times New Roman','serif'; font-size: 12pt;"> <span style="color: black; font-family: 'Times New Roman','serif'; font-size: 12pt;">There would not be a punnett square because the syndrome is caused by mutation.

**<span style="color: black; font-family: 'Times','serif'; font-size: 12pt;">Resources: **<span style="font-family: 'Times','serif'; font-size: 10pt;"> []  []  [|http://www.medscape.com/]    <span style="color: black; font-family: 'Arial','sans-serif'; font-size: 10pt; line-height: 115%;">[]