Related Experiment Video
Updated: Mar 20, 2026
Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
Published on: November 4, 2025
Tracheal cartilaginous sleeves in children with syndromic craniosynostosis
Tara L Wenger1, John Dahl2, Elizabeth J Bhoj3
1Department of Pediatrics, Division of Craniofacial Medicine, Seattle Children's Hospital, Seattle, Washington, USA.
Insights
Tracheal cartilaginous sleeve (TCS) affects 22% of children with syndromic craniosynostosis, particularly those with the FGFR2 W290C mutation. Early airway evaluation is recommended for these patients.
Area of Science:
- Genetics
- Pediatric Otolaryngology
- Medical Genetics
Background:
- Tracheal cartilaginous sleeve (TCS) poses a significant mortality risk.
- Early intervention can mitigate TCS-related mortality.
- Syndromic craniosynostosis is associated with airway complications.
Purpose of the Study:
- To determine the prevalence of TCS in children with syndromic craniosynostosis.
- To identify genotypes associated with TCS in this cohort.
- To inform clinical management strategies for airway risks.
Main Methods:
- Retrospective chart review of 86 patients with syndromic craniosynostosis.
- Airway evaluation under anesthesia for 31 patients.
- Genetic analysis to identify mutations in FGFR2, TWIST1, and FGFR3.
Main Results:
- TCS was identified in 19 of 86 patients (22% prevalence).
- FGFR2, TWIST1, and FGFR3 mutations were associated with TCS.
- All five children with FGFR2 W290C mutation had TCS; this mutation showed a strong association.
Conclusions:
- A significant association exists between TCS and syndromic craniosynostosis, especially with the FGFR2 W290C mutation.
- Routine airway evaluation by pediatric otolaryngologists is recommended for all patients with syndromic craniosynostosis.
- Genetic testing can guide risk assessment and timing of airway interventions.
Purpose:
Because a tracheal cartilaginous sleeve (TCS) confers a significant mortality risk that can be mitigated with appropriate intervention, we sought to describe the prevalence and associated genotypes in a large cohort of children with syndromic craniosynostosis.
Methods:
Chart review of patients with syndromic craniosynostosis across two institutions.
Results:
In a cohort of 86 patients with syndromic craniosynostosis, 31 required airway evaluation under anesthesia. TCS was found in 19, for an overall prevalence of 22%. FGFR2, TWIST1, and FGFR3 mutations were identified in children with TCS. All five children with a W290C mutation in FGFR2 had TCS, and most previously reported children with W290C had identification of TCS or early death. In contrast, TCS was not associated with other mutations at residue 290.
Conclusion:
There is an association between TCS and syndromic craniosynostosis, and it appears to be particularly high in individuals with the W290C mutation in FGFR2. Referral to a pediatric otolaryngologist and consideration of operative airway evaluation (i.e., bronchoscopy or rigid endoscopy) in all patients with syndromic craniosynostosis should be considered to evaluate for TCS. Results from genetic testing may help providers weigh the risks and benefits of early airway evaluation and intervention in children with higher-risk genotypes.Genet Med 19 1, 62-68.
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