Apert syndrome is a genetic disorder which affects the child’s skull, face, hands, and feet. This syndrome will affect the skull by fusion of both coronal sutures (craniosynostosis), causing an abnormal head shape and possibly an increase in the pressure on the brain. These skull changes lead to changes in the face. Primarily, we see underdevelopment of the upper and middle part of the face (midface hypoplasia). Facial features include widely spaced eyes, bulging of the eyes, an underdeveloped and ‘sunken-in’ appearance of the mid-face, and/or narrow roof of the mouth. This condition may also involve complex webbing (syndactyly) of the hands and feet.
What causes Apert syndrome?
Apert syndrome is a very rare genetic disorder. The incidence of children born with this disease can be 1 in 65,000 to 1 in 160,000. It can be passed on from the child’s parents through autosomal dominant inheritance, meaning that only one parent needs to have the abnormal gene for the child to inherit the disease. The majority of cases are not inherited; in these cases, there was a new mutation in the child’s fibroblast growth factor receptor 2 gene, located on chromosome 10.
What is treatment like for Apert syndrome?
Apert syndrome is a complex condition that requires multiple stages of treatment over the course of the patient’s lifetime. Craniosynostosis is treated by performing surgery to the skull. Oftentimes, the upper and middle face will require surgery as well. The first goal is to open the closed sutures to prevent problems with high pressure in the brain and allow the brain to grow normally. The second goal is to obtain a normal shape of the skull and face. The timing and type of surgery your child will have depends on your child’s condition and your surgeon. Your surgeon will also discuss the timing of hand and feet syndactyly release.
What else should I know about this procedure?
As a cleft and craniofacial specialist, Dr. Aboutanos is qualified and ready to care for your child as your child grows and develops. She is a member of the accredited Cleft and Craniofacial Team at St. Mary’s Hospital, and she will help coordinate your child's care with other specialists.