Apert Syndrome Treatment

Apert syndrome is a rare genetic condition affecting the skull and facial bones, as well as the arms and legs. This syndrome leads to craniosynostosis, which is underdevelopment of the facial bones and fusion of the fingers and toes. It occurs between one in 50,000 and one in 120,000 births.

Cause of Apert Syndrome

Apert syndrome is caused by one of two possible mutations. In most cases, this mutation happens randomly. We don’t fully understand what causes this, but it doesn’t appear that it occurs as a result of something either parent does or fails to do. Most parents who have a baby with Apert syndrome have normal genes. Children with can pass the gene on to their children, however. Only one copy of the gene needs to be passed on for the new baby to have it. A parent with this syndrome has a 50-50 chance of having a baby with it. Anyone with Apert syndrome who wishes to have children should consider meeting with a geneticist to discuss the risks and make a thoughtful, informed decision.

Characteristic Traits

The skull is comprised of a number of plates of bone joined together at joints called sutures. These sutures act like expansion joints, allowing the skull to get larger as your child grows and as his developing brain pushes outward. In Apert syndrome, two of these sutures fuse prematurely, preventing the child’s forehead from growing forward. When the brain cannot push the forehead forward as it grows, it pushes outward and upward in other parts of the skull where these expansion joints are functioning. This leads to a tall forehead that is too far back.

Children with this syndrome also have underdeveloped bones in the part of the face between the eyes and the mouth. The bones of the midface do not grow forward as they should. The combined effect of the slowed growth of the forehead and midface makes the eyes appear large and prominent. The eyes are normal-sized, but they are not as well protected and surrounded by bony structures as they should be, which makes them appear large.

Children also have fingers and toes fused together. The fingers and toes don’t separate while your baby is in the womb. Once your baby is born, the fingers and toes may be separated to allow your child to have more normal-appearing, useful hands and feet. Children with  may also have sleep apnea due to their underdeveloped midface, reflux disease, developmental delays and a slightly higher risk of small holes between the chambers of the heart. Most often, Apert syndrome is diagnosed at birth based on the characteristic appearance of the face and the hands and feet. The suspected diagnosis may be confirmed by genetic testing.

Surgical Treatment

• Skull surgery: Most children will need two to four skull operations over a lifetime. The earliest surgery is usually done in the first 18 months of life.
• Midface surgery: The most common surgery for moving the bones of the midface forward is called a LeFort III operation. This surgery is usually done when your child is 6-8 years of age. The main reasons to perform this surgery are severe obstructive sleep apnea or concerns about your child’s appearance.
• Separation of fingers and toes: In the vast majority of cases, all fingers and toes may be separated in two surgeries. The first of these surgeries is typically done between 9-12 months of age and the second follows approximately three months later.
• Obstructive sleep apnea: Obstructive sleep apnea is due to the underdevelopment of the midface area. The goal in all of these interventions is to ensure a good airway so that your child can get enough oxygen to help her develop to her fullest potential. Your child should be monitored for sleep apnea by your craniofacial team. In mild cases, medications may be enough to improve breathing. If more significant obstruction occurs, a tonsillectomy or continuous positive airway pressure (CPAP) masks may help alleviate symptoms. Sometimes, a tracheostomy may be necessary for infants with Apert to ensure adequate breathing. Midface surgery may be needed as your child gets older to treat obstructive sleep apnea or to remove a tracheostomy placed in infancy.