Apert syndrome is a genetic disorder that causes skeletal abnormalities. It is a rare disorder that causes the closure of the skull during foetal development. Apert syndrome is characterised by craniosynostosis—premature fusion of coronal sutures.
This causes abnormal development in the baby’s face, skull, fingers and toes. The fingers and toes may appear to be webbed.
Apert syndrome is a genetic mutation that occurs during pregnancy. It leads to a pointed skull and affects the facial bones.
Children affected with Apert syndrome can have an intellectual disability, and the severity of the syndrome can differ from one child to another. The pathology also depends on the mutation type.
The mutation that causes Apert syndrome can occur randomly. Both male and female children are equally affected by this syndrome.
According to NCBI, Apert syndrome is estimated to affect 1 in 65,000–20,000 babies. Additionally, it stated that the incidence of the syndrome increases with paternal age.
Causes
Apert syndrome is caused mainly due to mutation and genetic conditions. However, Apert syndrome's mechanism is still unknown, and scientists predict that it can be linked to Fibroblast growth factors (FGF).
Family history
Apert syndrome can affect babies if one of their parents is affected by the mutation. According to NCBI, there is a 50% of chance for the baby to get affected with Apert syndrome if one of their parents is affected with the disease.
However, a lack of family history does not rule out the option of the baby getting affected with Apert syndrome. Another cause of Apert syndrome is random mutation, and the reason for such mutation is still under research.
Symptoms of Apert syndrome
Apert syndrome can occur when the skull closes early before the development of the bones can be fully complete. This premature closing of skull bones can lead to changes in the facial bones. Some of the common symptoms of Apert syndrome are listed below.
Skull
The affected baby’s head can appear bigger than the normal head size. The baby can have a broad and high forehead. The backside of the skull can be flat, and the closure of the soft spot can be delayed.
Eyes
The space between the two eyes can be wide when compared to babies born without the defect. The baby can also have slanting or bulging eyes.
Face
The baby’s face can be flat with a beak nose. The face will not be symmetrical.
Hands and feet
The hands and feet of the baby will be clubbed or joined together.
Diagnosis
The diagnosis can be made after the birth of the baby. A physical examination will be the first diagnostic method handled to find out if the baby is affected by Apert syndrome.
MRI
Secondary testing methods used are MRI (magnetic resonance imaging) and CT scans. Apert syndrome is a skeletal abnormality. An MRI scan will help in the identification of the baby with the defect.
CT scan
Computed tomography or CT scan will help identify congenital heart defects. The combination of 3D-CT scan imaging diagnostic methods will help to diagnose the abnormalities when the baby is in the womb.
Genetic testing
The genetic testing method will help to identify the mutation in the FGFR2 gene. If the child is present with an abnormality, the genetic testing method will help to identify the defect in the early stage of the baby’s development.
Treatment
The treatment for Apert syndrome may vary depending on the symptoms that are exhibited and the severity of the mutation that has caused the defect.
Surgery
Surgery can be performed on the child to improve the shape of the skull. This surgery will allow the child’s brain to grow with sufficient space.
Surgery followed by helmet therapy will be effective in patients if the problem is diagnosed in an early stage.
Jaw reconstruction
Jaw reconstruction will help to correct the posture of the jaw appearance. This will help the baby to bite properly with proper alignment of the teeth.
Separation of connected fingers
Babies born with Apert syndrome will have connected fingers. This condition is called syndactyly. This can be separated with the help of surgery.
Skull reshaping surgery
Skull reshaping can be helpful for babies born with a high forehead and a flat skull. The skull reshaping surgery will help the baby’s brain to grow fully to its potential.
Plastic surgery on the chin and nose
Plastic surgery that is performed to correct the child’s chin and nose is called genioplasty. Plastic surgery will help correct the posture of the face.
Prevention
Apert syndrome is a genetic condition, and it can be inherited. Specific genetic tests can be conducted to test for the condition.
If the baby is diagnosed with Apert syndrome, the parents can be prepared mentally. And the treatment for the disease can also be pre-planned according to the baby’s needs.
Additionally, there are many genetic counsellors available to check for the chances of the baby getting inherited with the disease if Apert syndrome runs in the family.
Conclusion
Apert syndrome is a rare disease with no cure, and with the improvement of medical facilities, there are many advanced treatments available.
Treatments like jaw reconstruction, plastic surgery and skull reconstruction will help correct the baby’s facial arrangement and provide sufficient space for the baby’s brain to grow.
After the surgery, the baby will have a normal life expectancy. However, regular check-ups are required to keep up with the health condition as it requires lifelong assistance.
