Apert Syndrome, a rare genetic disorder that affects one out of 65,000 babies, is characterized by the abnormal development of the skull. It is a form of acrocephalosyndactyly (genetic abnormalities of the skull, face, hands and feet) discovered by Eugène Apert in 1906. Apert was a French physician who described nine people sharing similar attributes and characteristics due to this condition.
Babies who have this congenital disorder are born with distorted shape of the head and face along with other birth defects. Although it doesn’t have any cure, surgery may be used to correct some of the problems that come with the condition.
Craniosynostosis (The Abnormal Process)
Apert syndrome is caused by a rare mutation of a gene that is normally responsible for guiding the bones in connecting together at a certain time during development. The defective gene makes the skull bones fuse together prematurely. This abnormal process is called craniosynostosis. The brain then continues to grow inside the malformed skull, and this puts pressure on the bones in the skull and face. At birth, the newborn’s unusual appearance may be a sign of this condition, but genetic testing is still done to confirm the diagnosis.
The malformed skull and face is the main sign of Apert syndrome. Often, the malformation is evident in the shape of the head and the parts of the face.
• Babies who have this condition often have:
- long head
- high forehead
- sunken middle face
- poorly-closing eyelids
- wide-set and sunken eyes
• In relation to the abnormal growth of the skull, other problems also may occur, such as:
- hearing loss
- heart disease
- urinary system problems
- obstructive sleep apnea
- gastrointestinal ailments
- poor intellectual development
- repeated ear or sinus infections
It’s also common for babies who have this syndrome to suffer from abnormal fusion of the bones of the feet and hands. This is called syndactyly and results in webbed hands or feet.
As mentioned earlier, this condition doesn’t have any cure. Fortunately, surgery may be used to correct the abnormal connections between the bones in the skull.
• Craniosynostosis Release
This refers to the release of the skull bone fusion. This means that the surgeon separates the abnormally fused skull bones. After that, he/she rearranges some of them. This can be performed when the child is between 6 and 8 months old.
• Midface Advancement
As the child grows, the facial bones become misaligned once more. The surgeon would then cut the bones in the cheeks and jaw to bring them forward so the bones will have a more normal position. A child between 4 to 12 years old may have this surgery.
• Hypertelorism Correction
This seeks to correct the wide-set eyes. During this procedure, the surgeon removes a bone in the skull located between the eyes so he/she can move the eye sockets closer together.
• Other treatments for Apert syndrome patients include:
- surgical tracheostomy
- continuous positive airway pressure (CPAP)
- surgical placement of ear tubes (myringotomy)
- eye drops during the day and lubricating eye ointment at night