The North Carolina Cleft and Craniofacial Center’s nationally leading and multidisciplinary team has earned a reputation for providing holistic care and helping children achieve the best possible outcomes across their care journey, from diagnosis to treatment to therapy. Our pediatric reconstructive and plastic surgeons are international leaders in craniofacial treatments, including treatments for Apert syndrome, a rare and seemingly random condition characterized by malformation of the skull, face and sometimes the limbs.
Apert syndrome, or acrocephalosyndactyly, is caused by a gene that normally tells bones when and if to join together during development. When this gene is not functioning properly, it can cause early fusion of the fibrous joints in the skull. Doctors call this craniosynostosis, and when it occurs, the brain doesn’t have the room it needs, causing malformations. What distinguishes Apert syndrome from other types of craniosynostosis is that limbs and fingers can also fuse together.
Impact on the Face and Skull
A child born with Apert syndrome may have a long skull with a high forehead, wide-spaced or bulging eyes and asymmetrical facial features. In some cases, there are underdeveloped bones in the upper jaw, and a misshapen palate.
Impact on the Limbs
Apert syndrome can also affect limbs, causing short fingers, broad thumbs and large toes that turn outward. Fingers and toes may also be joined by the skin, soft tissue and sometimes are fused at the bone.
Diagnosis
Every individual experience with Apert syndrome can be very different, and while visible symptoms affecting the face, skull and limbs are recognized at birth, any impact on other organs and functions may become apparent only with genetic testing or as the child grows. The baby’s medical team will likely use imaging, such as CT scans or an MRI, to identify any skeletal irregularities or congenital heart defects.
Apert syndrome may affect:
- Hearing
- Vision
- Neurological development
- Heart and kidney development
Testing can assess these various complications and are often needed as the child grows to understand the full impact.
Treatment
A team approach is critical in the treatment of complex craniosynostosis. While there is no cure for Apert syndrome, there are many surgical and other therapeutic interventions that can make a significant difference in helping children reach their full potential.
Surgery may be recommended as early as one to four, if the development of the skull, face and limbs have been affected. In some cases, surgery is needed to relieve pressure on the brain, while other corrective and reconstructive surgery may be needed to address structural impact on the skull, face and limbs.
Physical, occupational and speech therapy may be recommended to support normal neurological and communicative development.
When both parents don’t have Apert syndrome, the chance of having additional children with the same syndrome is very low. Genetic counseling is still recommended to assess the possibility of Apert syndrome affecting future siblings.
