Apert syndrome

Apert syndrome can be diagnosed based on the presence of the following features:

• Turribrachycephalic skull shape (cone-shaped or towering skull) which is visisbly apparent and can be confirmed by skull radiograph or head CT examination
• Characteristic facial features including moderate-to-severe underdevelopment of the midface, bulging and wide-set eyes, "beaked" nose, underdeveloped jaw and shallow eye sockets
• Variable hand and foot findings such as syndactyly of the fingers and toes and polydactyly

Molecular genetic testing can help to confirm the diagnosis.

Treatment for Apert syndrome may vary depending on the specific symptoms and severity in each person, but surgery is required to prevent complete fusion of skull bones and protect brain development. Surgeries to correct symptoms affecting the brain, skull and face typically are done in stages, but the timing of surgeries as well as techniques used depend upon each child's symptoms, growth, and psychosocial development. Surgeries may be needed for the following:

• Craniosynostosis release, also called cranial vault expansion (surgery to treat the fusion of the skull bones too early in development). This is typically done at 6 to 12 months of age if the infant has normal intracranial pressure (pressure inside the skull), or earlier if the pressure is increased. In some cases, the surgeon performs an initial procedure in the first year of life to increase space within the skull before the release, in which case the release may be done after 12 months of age.
• Midface advancement or correction, in those who need additional correction of the skull or face for problems such as a sunken appearance of the face (midface hypoplasia), abnormal shape of the skull, or abnormal positioning of the eyes (orbital dystopia). The timing of surgery for midface advancement may vary depending on each child's situation. For example, it may be recommended before the child enters school (or around 4 to 8 years of age) so as to improve appearance, with the goal of maximizing the psychological well-being of the child. However, having this surgery at this age may result in recurrence, requiring another surgery in late adolescence. Therefore, some surgeons recommend midface advancement several years later, when facial growth is almost complete and the rate of recurrence is lower.
• Hypertelorism correction to lessen the distance between widely-spaced eyes. This may be done by removing part of the bone between the eyes (interorbital bone), and repositioning the eye sockets (orbits) closer together for improved appearance.

Various other surgeries or treatments may also be needed. For example, people with Apert syndrome may need surgery to correct or improve the shape or position of the jaws, or for the treatment of syndactyly or other skeletal abnormalities. Orthodontic treatment may be needed when growth is complete. Management for problems with speech, language, hearing or psychosocial issues may also be needed.

Hohoff A, Joos U, Meye U, Ehmer U, Stamm T. The spectrum of Apert syndrome: phenotype, particularities in orthodontic treatment, and characteristics of orthognathic surgery. Head Face Med. 2007; 3:10.