Apert syndrome

How is Apert syndrome diagnosed?

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.

Last updated on 05-01-20

How might Apert syndrome be treated?

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.

Last updated on 05-01-20

Selected Full-Text Journal Articles

Head Face Med - Apert syndrome

Last updated on 04-27-20

Name: FACES: The National Craniofacial Association PO Box 11082
Chattanooga, TN, 37401, United States
Phone: 423-266-1632 Toll Free: 800-332-2373 Email: faces@faces-cranio.org Url: http://www.faces-cranio.org/
Name: Children's Craniofacial Association 13140 Coit Road Suite 517
Dallas, TX, 75240 , United States
Phone: +1-214-570-9099 Toll Free: 1-800-535-3643 Fax : +1-214-570-8811 Email: contactCCA@ccakids.com Url: https://ccakids.org/
Name: Ameriface PO Box 751112
Las Vegas, NV, 89136, United States
Phone: 702-769-9264 Toll Free: 888-486-1209 Email: info@ameriface.org Url: http://www.ameriface.org
Name: ACPA Family Services 1504 East Franklin Street, Suite 102
Chapel Hill, NC, 27514-2820, United States
Phone: +1-919-933-9044 Fax : +1-919-933-9604 Email: info@acpa-cpf.org Url: https://cleftline.org/
Name: Headlines Craniofacial Support PO Box 13595 LINLITHGOW
EH49 9BD
United Kingdom
Phone: +44 (0)7500 778965 Email: info@headlines.org.uk Url: http://www.headlines.org.uk/

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