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Updated: Jan 18, 2026
Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
Published on: November 4, 2025
Craniosynostosis and metabolic bone disorder. A review
F Di Rocco1, A Rothenbuhler2, V Cormier Daire3
1Inserm 1033, neurochirurgie pédiatrique, centre de référence pour les craniosténoses, Lyon et université Claude Bernard Lyon 1, hôpital femme-mère-enfant, 69003 Lyon, France.
Introduction:
Some metabolic bone disorders may result in the premature closure of one or more calvarial sutures during childhood, potentially leading to a cranioencephalic disproportion. The aim of this paper is to review the characteristics and consequences of craniosynostosis associated with metabolic disorder.
Material And Methods:
A review of the literature on metabolic forms of craniosynostosis was performed.
Results:
The most common forms of craniosynostosis associated with metabolic bone disorder were isolated sagittal suture fusion with or without scaphocephaly, and sagittal suture fusion associated with coronal suture fusion (oxycephaly) or also with lambdoid suture fusion (pansynostosis). Synostosis may be well-tolerated, but in some subjects results in neurodevelopmental and functional impairment that is sometimes severe.
Conclusion:
The impact of metabolic synostosis is very variable, depending on the specific underlying metabolic disease, with a large spectrum of morphological and functional consequences. Diagnosis should be early and management should be carried out by a multidisciplinary team with expertise in both rare skeletal disorders and craniosynostosis. The impact of emergent medical therapies recently developed for some of these diseases will be assessed by systematic coherent follow-up of international registries.
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