Apert Syndrome is a type of craniosynostosis in which one or more of the cranial plates in the skull fuse(s) prematurely. It is a mutation of one of the two copies of chromosome 10, or “fibroblast growth factor receptor 2,” also known as FGFR2. It can be a dominant trait (e.g. “autosomal dominant,”) meaning it is a pattern of inheritance that is characteristic of some genetic anomalies. “‘Autosomal’ means that the gene in question is located on one of the numbered, or non-sex, chromosomes. ‘Dominant’ means that a single copy of the disease-associated mutation is enough to cause the disease. This is in contrast to a recessive disorder, where two copies of the mutation are needed to cause the disease”), only requiring one of the two parents to carry the gene in order for Apert Syndrome to occur. However, it is also common for the mutation to be a new one, where neither parent carries the trait at all. It is not a recessive trait, so subsequent children of the same couple have little to no likelihood of having Apert Syndrome. In our case, it was a completely new genetic mutation.
It is a rare genetic disorder, occurring somewhere between 1 in 65,000 to 1 in 200,000 live births (statistics vary depending on the source cited). There are several common identifying traits in one who has Apert Syndrome in addition to craniosynostosis, namely, syndactyly, where the fingers and/or toes are fused together. There are 5 types of syndactyly:
- Type 1 occurs when the “middle and ring fingers or second and third toes” are fused;
- Type 2 has a sixth finger fused between the middle and ring fingers;
- Type 3 involves the small finger fused with the ring finger;
- Type 4 is where all fingers and toes are fused together;
- Type 5 is like Type 1 but the bones of the fingers and toes may also be fused.
Sarah’s syndactyly is most like Type 4 or Type 5, also known as “mitten hands,” and only her thumb is separate from the rest of her hand; we learned that the middle two fingers’ distal tips (bones at the top joint) are fused. You can see what this looks like a bit more clearly on her here:
Another common trait in Apert Syndrome is the thumb itself – it protrudes outwardly a bit more and isn’t set straight. This is also evident in the photo above.
Sarah’s syndactyly also involves her toes; all of her toes are fused except the big toe, which also protrudes outwardly, similar to her thumb. You can see this better in the photo below:
Additionally, it is common for one with Apert Syndrome to have a “sunken” appearance in the mid-face and a more prominent brow and forehead. You can see this in Sarah with the photo below:
A lot of people also have what appears to be bulging or droopy eyes; Sarah’s eyes don’t always look this way, but you can see how they do stand out more on her face than a “typical” human face. She also has a very conspicuous bend in the bridge of her nose.
Is cognitive impairment inevitable?
From what we understand, Apert Syndrome varies in severity and can be viewed in terms of a “spectrum,” similar to how we understand Down Syndrome or Autism. In other words, there are very mild cases in which the individual is high functioning and very severe cases in which the person is very low functioning, and of course other cases in between. Some individuals with Apert Syndrome have mild to severe cognitive impairment, while others have a normal IQ and are only affected by their physical differences. So far, Sarah’s cognitive and adaptive development is right on par with that of her peers, and we have been told from several medical personnel that she is one of the highest functioning children with Apert Syndrome that they have seen.
What else is unique about Sarah?
Virtually every system in the human body can be affected, from the cardiovascular system to musculoskeletal to endocrine and dermatological, etc. A lot of people with Apert Syndrome need to be tested for hearing loss frequently, as it is common for them to suffer from ear infections and recurrent sinus infections. Sarah has undergone several very detailed hearing exams to determine whether or not her brain processes sound that is necessary for speech; while she does hear in both ears, there is a delay in her right ear in processing sound, and for this reason, she will be retested every six months to ensure a proactive approach for her auditory care.
Many people with Apert Syndrome not only require countless surgeries over the course of their lifetime, but they also have ongoing medical check-ups with several specialists. Sarah has the following specialists, whom she sees on a regular basis:
*Pediatric Dentist (and in the future, pediatric orthodontist and oral surgeon).
From what we understand, every person with Apert Syndrome has an entirely unique journey. Sarah’s is no different.
Copyright 2014 Jeannie Ewing
Watch these heartfelt, inspiring videos
Jennifer Shaw has a son with Sensory Processing Disorder, which is also what our Felicity was diagnosed with at eighteen months. Her song, “Your Child,” is not just about kids who have SPD, but also kids who have other differences and their families who celebrate their lives! I cannot watch this video without crying, because it is so beautiful.
The next video is of an elderly man with cerebal palsy who creates extraordinary artwork using a typewriter. His cheerful attitude brightens everyone’s hearts, and he is an inspiration to all. Note his smile and simplicity. It truly is a joy to know and love people who aren’t typical. Their differences shine God’s light on the world.