Apert Syndrome

Apert Syndrome (AKA Alport syndrome) is a genetic defect which can be inherited from a parent who has Apert or a fresh mutation. It falls under the broad classification of craniofacial/limb anomalies. Approximately 1 per 160,000 to 200,000 live births inherit it. Some symptoms that Apert sufferers have are various heart defects, ear infections, severe acne, increased incidence of eye injuries, and many more. The skull is prematurely fused and unable to grow normally, and the fingers and toes are fused together in varying degrees.

If your child gets Apert Syndrome they may have many physical defects as well as a few other problems such as slower learning, a cleft palate, vision problems, and problems with acne during puberty. I don’t think Apert Syndrome children die, expecially because you can pass 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 called Fibroblast Growth Factor 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 blocks 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 doesn’t do during her pregnancy to cause Apert. Doctors believe Apert Syndrome occurs when a gene mutates early in the pregnancy. The chances of having a second child with Apert are almost non-existent. However 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 older fathers.

The only treatment for Apert Syndrome right now is a surgery to correct the skull, mid-face, and palate. The surgery is done after an evaluation by a multispecialty cranio-facial team at a children’s medical center. From my research I have come to believe that no gene therapy is being attempted. Apert Syndrome still remains fairly untreated. However many of my sources state that they are trying hard to come up with a good treatment for Apert Syndrome.


Category: Science