Apert Syndrome
Apert syndrome is a genetic syndrome due to a mutation on the FGFR2 gene. It affects the skull, face, hands and feet.
What Is Apert Syndrome?
Apert syndrome affects the skull, face, hands and feet. It is a genetic syndrome, which is due to a mutation on the FGFR2 gene.
The syndrome usually happens sporadically, meaning without affecting previous family members. The syndrome is not due to anything that the mother or the father did.
What Are the Signs and Symptoms of Apert Syndrome?
Signs of Apert syndrome include:
- Craniosynostosis: When the sutures separating the bones of the skull fuse too soon. The most common craniosynostosis pattern associated with Apert syndrome is premature fusion of both coronal sutures, resulting in a head that is short from front to back, with a flat forehead. The head may be tall. If left untreated, craniosynostosis can lead to increased pressure on the brain. Other forms of craniosynostosis can also occur.
- Midface deficiency: The region of the facial bones between the eyes and the upper jaw is small in Apert syndrome. This can lead to an underbite, as well as obstructive sleep apnea. Due to the small orbits, the eyes can appear more prominent in Apert syndrome.
- Hypertelorbitism: The eyes may be too far apart in Apert syndrome
- Syndactyly: The fingers and toes are fused in Apert syndrome
How Is Apert Syndrome Diagnosed?
The diagnosis of Apert syndrome can usually be made by examining the patient. Sometimes, genetic testing is done to confirm the diagnosis.
How Is Apert Syndrome Treated?
Craniofacial Operations
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Calvarial vault remodeling: This procedure addresses the craniosynostosis by releasing the fused suture and allowing expansion and reshaping of the skull. This operation is usually performed before 1 year of age.
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LeFort 3: This procedure addresses the midface deficiency by advancing the midface. It can be done as a direct advancement (for small movements), or as a distraction (for large movements). This operation is usually performed between 7 and 10 years of age.
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Monobloc/facial bipartition: This procedure involves advancing the forehead as well as the midface in one piece, as well as removing bone from between the orbits to bring them closer to each other if hypertelorbitism is present. It can be done as a direct advancement (for small movements), or as a distraction (for large movements). This operation is usually performed between 7 and 10 years of age.
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Box osteotomy: This procedure allows movement of the orbits in any directions, usually to narrow the distance between the eyes. This operation is usually performed after 12 years of age, after the permanent canines have erupted.
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Orthognathic surgery: Final orthognathic surgery is performed to improve the bite after the child has finished growing, around 16 for girls and around 18 for boys.
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Rhinoplasty: Rhinoplasty is usually the final facial operation in Apert children. It sometimes involves the use of rib graft to improve the projection of the nose.
Hand Operations
Syndactyly release: Multiple operations are usually required in order to fully release the syndactyly of Apert syndrome. The first operation is usually before 6 months of age. Learn more about the Hand and Upper Extremity Program.
