Molecular Insights into Craniosynostosis: A Review
Introduction and Purpose Craniosynostosis (CS), the premature fusion of one or more calvarial sutures, is a common congenital skull malformation affecting 1 in 2000–2500 live births. The calvarial sutures, including the metopic, lambdoid, coronal, and sagittal, are essential for skull and brain dev...
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| Format: | Article |
| Language: | English |
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Kazimierz Wielki University
2024-12-01
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| Series: | Journal of Education, Health and Sport |
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| Online Access: | https://apcz.umk.pl/JEHS/article/view/56244 |
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| author | Aleksandra Kutaj Zuzanna Adamowicz |
| author_facet | Aleksandra Kutaj Zuzanna Adamowicz |
| author_sort | Aleksandra Kutaj |
| collection | DOAJ |
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Introduction and Purpose
Craniosynostosis (CS), the premature fusion of one or more calvarial sutures, is a common congenital skull malformation affecting 1 in 2000–2500 live births. The calvarial sutures, including the metopic, lambdoid, coronal, and sagittal, are essential for skull and brain development. Premature fusion can cause skull deformities, increased intracranial pressure, cortical lesions, intellectual disabilities, or sensory impairments. This study reviews the clinical and molecular mechanisms of CS, explores syndromic and non-syndromic forms, and discusses advances in diagnostics and treatment.
Material and Methods
A comprehensive literature review examined CS's clinical presentation, genetic basis, and molecular pathways. Syndromic forms linked to FGFR1, FGFR2, FGFR3, and TWIST1 were analyzed alongside insights into non-syndromic CS. Current treatment strategies and future diagnostic directions were evaluated.
Description of the State of Knowledge
CS is a heterogeneous condition with syndromic and non-syndromic variants. Syndromic CS is linked to over 180 genetic disorders, often inherited dominantly, and includes syndromes like Apert, Crouzon, and Saethre-Chotzen, associated with FGFR and TWIST1 mutations. These syndromes exhibit diverse phenotypes, many unrelated to CS. Non-syndromic CS's molecular mechanisms remain less understood, but recent research highlights novel genetic contributors and signaling pathways, offering therapeutic insights.
Conclusions
CS is a complex condition with clinical and genetic variability. Syndromic CS is well-studied, while non-syndromic forms need further research. Advances in genetic understanding and signaling pathways provide new insights into CS pathogenesis. Integrating molecular diagnostics with surgical treatment could enhance management. Future research should uncover the genetic basis of CS to improve diagnostics and enable innovative therapies.
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| format | Article |
| id | doaj-art-77d42f365fcf420ea1ca5d710b16980d |
| institution | OA Journals |
| issn | 2391-8306 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Kazimierz Wielki University |
| record_format | Article |
| series | Journal of Education, Health and Sport |
| spelling | doaj-art-77d42f365fcf420ea1ca5d710b16980d2025-08-20T02:19:38ZengKazimierz Wielki UniversityJournal of Education, Health and Sport2391-83062024-12-017510.12775/JEHS.2024.75.56244Molecular Insights into Craniosynostosis: A ReviewAleksandra Kutaj0Zuzanna Adamowicz1Poznań University of Medical sciencesPoznań University of Medical sciences Introduction and Purpose Craniosynostosis (CS), the premature fusion of one or more calvarial sutures, is a common congenital skull malformation affecting 1 in 2000–2500 live births. The calvarial sutures, including the metopic, lambdoid, coronal, and sagittal, are essential for skull and brain development. Premature fusion can cause skull deformities, increased intracranial pressure, cortical lesions, intellectual disabilities, or sensory impairments. This study reviews the clinical and molecular mechanisms of CS, explores syndromic and non-syndromic forms, and discusses advances in diagnostics and treatment. Material and Methods A comprehensive literature review examined CS's clinical presentation, genetic basis, and molecular pathways. Syndromic forms linked to FGFR1, FGFR2, FGFR3, and TWIST1 were analyzed alongside insights into non-syndromic CS. Current treatment strategies and future diagnostic directions were evaluated. Description of the State of Knowledge CS is a heterogeneous condition with syndromic and non-syndromic variants. Syndromic CS is linked to over 180 genetic disorders, often inherited dominantly, and includes syndromes like Apert, Crouzon, and Saethre-Chotzen, associated with FGFR and TWIST1 mutations. These syndromes exhibit diverse phenotypes, many unrelated to CS. Non-syndromic CS's molecular mechanisms remain less understood, but recent research highlights novel genetic contributors and signaling pathways, offering therapeutic insights. Conclusions CS is a complex condition with clinical and genetic variability. Syndromic CS is well-studied, while non-syndromic forms need further research. Advances in genetic understanding and signaling pathways provide new insights into CS pathogenesis. Integrating molecular diagnostics with surgical treatment could enhance management. Future research should uncover the genetic basis of CS to improve diagnostics and enable innovative therapies. https://apcz.umk.pl/JEHS/article/view/56244Craniosynostosisskull suturespremature suture fusioncranial deformity |
| spellingShingle | Aleksandra Kutaj Zuzanna Adamowicz Molecular Insights into Craniosynostosis: A Review Journal of Education, Health and Sport Craniosynostosis skull sutures premature suture fusion cranial deformity |
| title | Molecular Insights into Craniosynostosis: A Review |
| title_full | Molecular Insights into Craniosynostosis: A Review |
| title_fullStr | Molecular Insights into Craniosynostosis: A Review |
| title_full_unstemmed | Molecular Insights into Craniosynostosis: A Review |
| title_short | Molecular Insights into Craniosynostosis: A Review |
| title_sort | molecular insights into craniosynostosis a review |
| topic | Craniosynostosis skull sutures premature suture fusion cranial deformity |
| url | https://apcz.umk.pl/JEHS/article/view/56244 |
| work_keys_str_mv | AT aleksandrakutaj molecularinsightsintocraniosynostosisareview AT zuzannaadamowicz molecularinsightsintocraniosynostosisareview |