How is Apert Syndrome diagnosed?

As with many other genetic syndromes, Apert Syndrome is only definitively diagnosed through a blood test that specifically and positively confirms the presence of the FGFR2 mutation (specifically on chromosome 10q, though Sarah’s showed up on chromosome 7, and other craniofacial anomalies have the same FGFR2 mutation on different chromosomes); however, it is not entirely necessary to have this blood test completed in order to proceed with appropriate diagnostic testing and surgical consultations.  Many biological markers can properly and confidently identify Apert Syndrome, such as the presence of syndactyly in the hands and feet, a sunken midface, and a pronounced forehead and enlarged soft spot.  Other typical characteristics in Apert include a small nose, bugged eyes, small feet, and curved big toes and thumbs.  Most seasoned geneticists will recognize the common identifiers of Apert Syndrome and then proactively refer families to pediatric specialists who will further assist them in correcting or addressing the anomalies.

What tests and exams does Sarah face?

In our case, Sarah had to undergo a series of specific diagnostic tests that would provide a baseline for her craniofacial surgical team to properly assess how to proceed with her necessary surgeries.  Here is a partial list of what a person with Apert Syndrome may have to endure:

  1. CT scan of head and neck – this is to check for such anomalies as “chiari malformation,” which is a serious indicator of central sleep apnea.  Apparently, sleep apnea is fairly common in those who have Apert Syndrome.  Obstructive sleep apnea is the more obvious of the two and can be detected through heavy snoring and also through the use of an apnea monitor (which Sarah was on for about a month).  The apnea monitor detects either a too-low or too-high heart rate, as well as breathing that has ceased for a specified period of time (determined by the child’s doctor).  Central sleep apnea is less obvious, yet more destructive, because it can often go undetected.  It has to do with the signals from the brain that make a person stop breathing when sleeping and can only be detected in a sleep study or through the CT scan.  The CT scan will also help determine if there is any neurological damage or abnormalities that could indicate possible cognitive impairment or perhaps speech delays, etc.  (Note: We plan to have Sarah undergo a full sleep study to rule out dangerous sleep disorders.)
  2. Chest/neck x-ray – this was to simply confirm whether or not the child’s bone structure is sufficient to withstand surgery.
  3. Renal ultrasound – to assess proper and healthy kidney function, as many people with Apert Syndrome may suffer from renal malfunctions.
  4. Echocardiogram – to ensure that the heart is functioning properly, again so that the surgical team may confidently proceed with necessary surgeries, and also because many people with Apert Syndrome have some sort of heart conditions.
  5. Examination by a pediatric ENT  and audiologist – In Sarah’s case, it was because she is constantly congested.  We know this is common with those who have Apert Syndrome, especially because the bridge of the nose is often sunken.  The ENT needs to determine whether or not the child will be able to breathe when under an anesthetic for surgery.  If there are any concerns, s/he can then recommend that the surgical team insert a tracheotomy temporarily or other measures to ensure that the child will be able to breathe throughout surgery.

So far, these are the diagnostic tests Sarah has undergone to prepare her for surgeries.  Once the tests are complete and results are in, they are sent to the craniofacial team.  The craniofacial team typically consists of a craniofacial/plastic surgeon (who will perform what is called a frontal orbital advancement that releases the cranial plates that are fused so that the brain can properly grow in a larger skull), a neurosurgeon (for consultation and to perform deconstruction of the skull before the craniofacial surgeon reconstructs the skull and face), an orthopedic surgeon (who specializes in pediatric surgery for the hands and possibly feet and will separate the fingers and toes), and other specialists, such as speech therapists, nurses, etc.

What surgeries will Sarah undergo?

The types of surgeries that are necessary include (but are not limited to): frontal orbital advancement, which is done between 6-10 months of age on average (see above paragraph), Leforte III (this will surgically advance the sunken mid-face and is not performed until between the ages of 4-11), and orthopedic surgery for the hands and feet, typically starting between the ages of 4-6 months of age.  From what we understand, this surgery is done in stages, because the fingers cannot be completely functional in only one surgery.

Continual surgeries will be necessary throughout the child’s life until s/he reaches adulthood and has stopped growing physically.  Most of the surgeries are done between the ages of 4 – 18 months of age, but follow-up surgeries are necessary at least annually until the child has stopped growing.

Because each case of Apert Syndrome is so unique and complex, it is impossible to compartmentalize every situation as cut-and-dry.  I am including what we have been told (so far) specifically concerning Sarah’s case.  For more severe cases (as in the case of a cleft palate), there would be additional surgeries.  In less severe cases, there would be fewer.

From what we have experienced with Sarah, there are many ways to go about the first surgery to correct craniosynostosis; it all depends upon how many of the cranial plates are fused, the thickness and shape of the skull, etc.  So it truly is a craft or an art of sorts.  Sarah had what is called a cranial vault reconstruction, or CVR, specifically called a “distraction” from the posterior of her skull.  In other words, the neurosurgeon opened the bicoronal plates via the back of her skull, and the craniofacial surgeon determined the thickness of her skull in order to discern what type of reconstruction he would perform.  Because her skull was thick enough, he did was is called a “distraction,” which means that he put metal plates on both sides of the bicoronal plates, along with wires that were attached to the metal plates and to distractors (or pins) that are on the outside of the head.  In Sarah’s case, the distractors ended up on the side of her head, but some children have them on the frontal area; some children also need helmets.  Then the distractors must be turned with a screwdriver for a determined amount of time each day for 3 consecutive weeks.  At the end of 3 months, the distractors were removed, barring no complications.