In recognition of Apert Awareness Month, I’ll be writing a series of articles about living with Apert Syndrome.
To tell you a bit about me, my name is Kaddy Thomas. I run Elijah’s Hope CIC, an organisation for children, young people, adults and their families facing the challenges of living with Apert syndrome. I’m also a busy mum to my 14-year-old son, Elijah.
I have Apert Syndrome, as does Elijah, although our two experiences of living with this rare genetic condition couldn’t be to more different extremes (more about that in later articles!)
First, I want to answer the question, “What is Apert syndrome?”
Apert syndrome definition
The human skull is made up of several plates that, when we’re born, are loosely held together with special joints or seams known as sutures. These seams allow the skull plates to move and expand to make room for a child’s growing brain.
Over time, the sutures harden or fuse, holding the plates firmly together. Some of these seams fuse later than others, once skull has finished growing.
When a child has craniosynostosis, the sutures fuse before birth.
Apert syndrome combines ‘complex craniosynotosis’ (the fusion of more than one suture) with a collection of other symptoms typically seen together (this is what the word ‘syndrome’ means).
The unifying feature of Apert is that the so-called ‘coronal’ sutures fuse before birth. This means that the skull ends up being short from front to back but wide from side to side.
Other sutures may also be affected from birth or later in childhood as the skull grows.
People with Apert syndrome usually find that their facial bones are affected too. Typically, the cheekbones and upper jaw don’t grow in proportion to the rest of the skull.
Our eye sockets are wider spaced and shallower than usual, which causes the eyes to bulge outwards.
As well as the skull and face, people with Apert have ‘complex syndactyly’ of the hands and feet. This means that our fingers and toes are either fused or webbed.
What are the symptoms of Apert syndrome?
The symptoms of Apert syndrome can differ quite dramatically from one person to the next. If, for example, the skull plate fusion is severe, it can cause pressure to build up inside the brain, which requires urgent treatment.
There is also a risk of developing hydrocephalus leading to brain damage. This occurs when cerebrospinal fluid is stopped from circulating or being reabsorbed, and instead swells the ventricles in the brain, again causing a dangerous amount of pressure.
Surgery is sometimes an option to fit bone distractors that slowly pull the skull plates apart and give the brain more room to grow.
In rare cases, Apert can affect the bones of the spine in the neck area, causing a condition called Chiari malformation, where the base of the brain is squeezed.
Most typically though, people with Apert syndrome have narrow nasal airways because the bones in the middle of the face don’t grow. This can result in problems such as repeated sinus infections and obstructive sleep apnoea; in very severe cases, a tracheostomy (breathing tube in the throat) may help children with sleep apnoea.
Some hearing, vision problems and dental problems are common too.
In addition, some children with Apert are born with a cleft palate.
A small number have heart problems that require life-long monitoring. Gastrointestinal and urinary systems sometimes occur too.
Hyperactive sweat glands may cause a child to sweat a lot, especially while sleeping, and problems with acne are more likely, especially during puberty.
It’s estimated that around 50% of children with Apert syndrome have delayed developmental milestones or some learning disabilities, although this varies greatly from one child to another. As the children grow older, they often catch up with their peers.
What causes Apert syndrome?
Apert syndrome is a genetic condition, caused by a mutation early in pregnancy on a specific gene (known as the Fibroblast Growth Factor Receptor 2 – FGFR2 – gene). This gene affects how certain cells in the body – including bone cells – behave.
This gene mutation can be passed on from a parent to child but, in most cases, it develops out of the blue. If a parent has Apert syndrome, then a child has a 50% (one in two) chance of inheriting the condition.
If neither parent has Apert syndrome then the chances of having another child with Apert is almost non-existent.
How is Apert syndrome treated?
There is no cure for Apert syndrome. Instead, treatments are delivered on a case-by-case basis, depending on the individual.
People with Apert are usually under the care of a multidisciplinary team, which could include:
- Craniofacial (skull and face) surgeons
- Neuro (brain) surgeons
- Ear, nose and throat surgeons/specialists
- Ophthalmologists (eye specialists)
- Audiologists (hearing specialists)
- Dentists and orthodontists
- Speech and language therapists
- Other specialists with appropriate knowledge
If a baby’s skull has already quite extensively fused, they may need surgery soon after birth to relieve the pressure on their brain or to help their breathing or protect their eyes.
Children are monitored as they grow in case they need surgeries or other medical interventions.
Most people with Apert will have some sort of craniofacial surgery during their childhoods to reshape the skull or face.
Surgery to separate fused fingers is usually carried out in phases. The most crucial surgery is the one that allows a pincer grip between the thumb and index finger. Toes are often left as they are unless they’re causing mobility problems.
Other surgeries to improve midface problems are usually carried out in late childhood. These surgeries aim to reshape the eye sockets and cheek bones, for example. Some people need multiple surgeries to make further corrections as the bones continue to grow throughout adolescence.
Children with Apert often experience frequent ear infections and some hearing loss, so it’s common for grommets to be put in to help remove fluid in the ears. Orthodontic braces can also improve overcrowding of the teeth or speech.
If a child with Apert develops hydrocephalus, they will need to have a shunt fitted to divert the blocked cerebrospinal fluid to their abdomen.
How common is Apert syndrome?
Apert syndrome affects an estimated 1 in 65,000 newborns worldwide with an equal split across males and females.
Don’t forget to keep an eye out for the rest of my ‘Living with Apert syndrome’ series. Follow us on Facebook at Elijah’s Hope.