Table 7.

Recommended Surveillance for Individuals with Apert Syndrome

System/ConcernEvaluationFrequency
Oropharynx Assessment for velopharyngeal insufficiency 1, 2After emergence of language
Speech assessment to monitor for speech disordersAt least annually
Dental Assessments w/primary dentist to ↓ caries & support dental health 3Every 6 mos
Eyes Ophthalmologic eval to incl vision, eye alignment, & dilated fundoscopy to assess optic nerves 4Annually
Ears Audiologic & otologic assessementsAt least annually
Musculoskeletal Monitor for development of scoliosis by clinical exam w/surveillance spine radiographs if recommended by spine surgeon.Annually in childhood & adolescence
Neurologic Measurements of head circumference (& fontanelle size, if applicable) to monitor for progressive hydrocephalusAt each appointment in infancy & early childhood
Assessments for ↑intracranial pressure 5, 6
Eval by craniofacial teamRegularly, esp in infancy, childhood, & adolescence
Development/
Cognition 		Assessment of developmental progressAt each visit
1.

For those with cleft palate

2.

Orthognathic and airway procedures may also alter velopharyngeal function.

3.

Surveillance by an orthodontist with craniofacial expertise beginning in mixed dentition will help guide orthodontic and orthognathic interventions.

4.

Papilledema in individuals with multisuture craniosynostosis can occur before and after cranial decompression [Bannink et al 2008].

5.

The type of surveillance needed depends on the types of surgery that the child has had and will be determined by the neurosurgeon and craniofacial team.

6.

The craniofacial team should be contacted urgently if there are symptoms that suggest increased pressure such as unexplained persistent vomiting, headaches, or changes in head circumference.

From: Apert Syndrome

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.