By: Stephanie Shabangu, Penfield Children’s Center
Reviewed by: Shelli Samson, NI, Penfield Children’s Center

Apert syndrome affects the shape of a baby’s face and occurs when bones in the skull fuse together prematurely. In addition to affecting the child’s skull, this genetic disorder can also affect the shape of the hands and feet.

Among other issues, children with this syndrome might have wide-set eyes, a jaw that is not fully developed, a cleft palate and fingers and toes that are fused together. Apert syndrome can cause cognitive issues, but that is not always the case; other children develop typically and stay on-track with their peers. In order for the brain to develop normally, most children with Apert syndrome require surgery. Children without heart complications and who live past childhood most often have a normal life expectancy.

According to the U.S. National Library of Medicine, 1 in every 65,000 to 88,000 newborns are diagnosed with this condition.

What causes Apert syndrome?

Children develop this syndrome because of a genetic mutation. The mutated gene creates a protein that signals immature cells to become bone cells. This promotes the fusion of bones in the feet, hands and skull.

Did my child develop Apert syndrome because it runs in our family?

Not necessarily.  Most children who develop Apert syndrome did so because of a new mutation in one of their genes and did not have other family members affected by the syndrome.  However, it is possible to pass the condition to the next generation.

How is Apert syndrome diagnosed?

First, a doctor will examine an infant’s skull and face. He/she will also take an x-ray of the hands, feet and skull to see how the bones have fused together. If the doctor does suspect your child has Apert syndrome, he/she will order genetic testing.

My child was diagnosed with Apert syndrome. What steps can I take as a parent to help him?

Receiving a medical diagnosis, no matter the severity, can be scary. Fortunately, your child’s doctor can come up with a treatment plan to help your child. In many hospitals, specialists such as plastic surgeons, speech therapists and ears-nose-and-throat (ENTs) doctors all work together to come up with a plan that will work for your family. If your child does require surgery, there are two common types for children diagnosed with Apert syndrome: endoscopic craniosynostosis repair and open craniosynostosis repair surgery. Endoscopic craniosynostosis repair is a procedure that uses a tiny scope and leaves minimal scarring. It is a very low risk procedure with a fast recovery time. Open craniosynostosis repair surgery also has a low amount of risk, but involves a larger incision. The purpose of these surgeries is to separate bones that have fused together.

While there is not one type of care plan for a child who has Apert syndrome, the goal of your child’s doctor is to repair the affected bones with as little procedures as possible. Children with Apert syndrome lead fun and fulfilling lives, similar to their typically developing peers, but do require extra medical attention to ensure the proper development of their bones.


What other rare genetic disorders have you learned about?


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