TREATMENTS
There is no known cure, but surgery is available to correct the abnormal connections between bones. Steps to this surgery include: separating and rearranging the abnormally fused skull bones, realigning the jaw and cheeks to bring them forward, and correcting the wide-set eyes by removing pieces of bone to bring the eye sockets closer together.
Other treatments include: using eye drops and lubricating eye ointment to prevent dryness in the eyes: continuous positive airway pressure (CPAP) so the airway stays open during sleep, antibiotics, surgical tracheostomy (the placing of a breathing tube in the throat to aid breathing), and myringotomy (the placement of ear tubes in the ear canal to aid hearing).
Genetic testing is not required to know if one has Apert Syndrome, however, it is often used to confirm the diagnosis. Occasionally, genetic testing is done prenatally, but most of the time, it is done shortly after birth.
Other treatments include: using eye drops and lubricating eye ointment to prevent dryness in the eyes: continuous positive airway pressure (CPAP) so the airway stays open during sleep, antibiotics, surgical tracheostomy (the placing of a breathing tube in the throat to aid breathing), and myringotomy (the placement of ear tubes in the ear canal to aid hearing).
Genetic testing is not required to know if one has Apert Syndrome, however, it is often used to confirm the diagnosis. Occasionally, genetic testing is done prenatally, but most of the time, it is done shortly after birth.
NEW RESEARCH
Over time, scientists and doctors have developed surgeries and other procedures to make living with Apert Syndrome as comfortable as possible. This means that there is not an urgent need for new research about Apert Syndrome. Some research has been done, however. The most recent statistic is that Apert's is estimated to occur once in every 156,000 to 200,000 births.
A recent study called "Mouse models" was used to display the signs and symptoms of Apert Syndrome on a mouse. Along with proving what they already knew, the scientists found that Apert's affects the growth of femur, cranial base, and coronal sutures. In addition, there were two specific patients who resulted negative for the regular two mutations. The first patient carried a 1.93-kb deletion, which means that the first deletion in craniosynostois (part of the FGFR2 gene) was too large. The second patient had a mistake in the third insertion of Alu into part of the gene. |