A Guide to Understanding Apert Syndrome - Children's Craniofacial ...

the population. Studies have shown that Apert syndromeoccurs more often in children of older fathers.Recently studies were conducted at Oxford University andthey managed to identify the actual genetic change whichoccurs in Apert syndrome. The following is a quote from aletter sent to the test families by Oxford.“A total of 86 children and adults affected with Apertsyndrome have been seen. From the blood samples whichhave been donated for research, we have identified thegenetic change that causes the condition. The change is in agene on chromosome number 10 called 'Fibroblast GrowthFactor Receptor 2' (FGFR2 for short). We all have two copiesof this gene (one from mother, one from father), which iscomposed of a string of about 2000 of the chemical buildingblocks that make up the genetic material called DNA. WhenApert syndrome occurs, just one particular building block inone of these two gene copies has been exchanged foranother. The other gene copy is entirely normal. This one tinychange in the FGFR2 gene results in the physical features ofApert syndrome.”who is involved in the treatmentof Apert syndrome?ideally, treatment of Apert syndrome begins at birth withaccurate diagnosis, identification of the child's individualneeds, and the proper facilities to administer what is needed.Treatment for these children requires careful planning withmultiple surgeries ranging from minor to complex. Treatmentfrom many different specialists working as a team is necessaryand can help in avoiding complications.A craniofacial team may consist of a craniofacial surgeon,neurosurgeon, ENT, audiologist, speech pathologist, oralsurgeon, psychologist, ophthalmologist, and an orthodontist. Theteam approach is used by these physicians to determine the bestcollaborative corrective plan for the deficiencies of the child.2