CRANIOSYNOSTOSIS AS A PUBLIC HEALTH CHALLENGE – CURRENT KNOWLEDGE ON ETIOLOGY, SYNDROMIC FORMS, AND MANAGEMENT STRATEGIES
Abstract
Craniosynostosis is a congenital condition defined by the premature fusion of one or more cranial sutures, leading to abnormal skull morphology and, in some cases, impaired brain development. This review explores the phenotypic variations resulting from different suture involvements, examines the etiology distinguishing syndromic from nonsyndromic forms, and presents an overview of the most common craniosynostosis-associated syndromes, along with their clinical manifestations and systemic complications such as hearing loss and respiratory dysfunction. Additionally, the review summarizes contemporary surgical approaches and timing considerations in the management of this condition.
The review highlights significant differences in cranial morphology depending on the specific sutures involved, as well as the diverse clinical profiles of syndromic forms associated with FGFR and TWIST mutations. Syndromes such as Muenke, Apert, and Crouzon exhibit characteristic patterns of suture fusion alongside functional impairments including sensorineural hearing loss and obstructive sleep apnea. Surgical strategies vary based on age, severity, and complexity, with endoscopic techniques preferred in early infancy and open reconstruction favored for older patients or complex cases.
A comprehensive understanding of the clinical presentation, genetic basis, and systemic associations of craniosynostosis is essential for accurate diagnosis and individualized treatment planning. Early recognition, timely intervention, multidisciplinary care, and the use of age-appropriate surgical techniques are key to optimizing functional and aesthetic outcomes while supporting long-term health and well-being.
References
Stanton E, Urata M, Chen JF, Chai Y. The clinical manifestations, molecular mechanisms and treatment of craniosynostosis. Dis Model Mech. 2022;15(4):dmm049390. doi:10.1242/dmm.049390
Governale LS. Craniosynostosis. Pediatr Neurol. 2015;53(5):394-401. doi:10.1016/j.pediatrneurol.2015.07.006
Di Rocco F, Arnaud E, Renier D. Evolution in the frequency of nonsyndromic craniosynostosis. J Neurosurg Pediatr. 2009;4(1):21-25. doi:10.3171/2009.3.PEDS08355
Kajdic N, Spazzapan P, Velnar T. Craniosynostosis - Recognition, clinical characteristics, and treatment. Bosn J Basic Med Sci. 2018;18(2):110-116. Published 2018 May 20. doi:10.17305/bjbms.2017.2083
Sharma RK. Craniosynostosis. Indian J Plast Surg. 2013;46(1):18-27. doi:10.4103/0970-0358.113702
Slater BJ, Lenton KA, Kwan MD, Gupta DM, Wan DC, Longaker MT. Cranial sutures: a brief review. Plast Reconstr Surg. 2008;121(4):170e-178e. doi:10.1097/01.prs.0000304441.99483.97
Boulet SL, Rasmussen SA, Honein MA. A population-based study of craniosynostosis in metropolitan Atlanta, 1989-2003. Am J Med Genet A. 2008;146A(8):984-991. doi:10.1002/ajmg.a.32208
Blount JP, Louis RG Jr, Tubbs RS, Grant JH. Pansynostosis: a review. Childs Nerv Syst. 2007;23(10):1103-1109. doi:10.1007/s00381-007-0362-1
Sanchez-Lara PA, Carmichael SL, Graham JM Jr, et al. Fetal constraint as a potential risk factor for craniosynostosis. Am J Med Genet A. 2010;152A(2):394-400. doi:10.1002/ajmg.a.33246
Kimonis V, Gold JA, Hoffman TL, Panchal J, Boyadjiev SA. Genetics of craniosynostosis. Semin Pediatr Neurol. 2007;14(3):150-161. doi:10.1016/j.spen.2007.08.008
Kapp-Simon KA, Speltz ML, Cunningham ML, Patel PK, Tomita T. Neurodevelopment of children with single suture craniosynostosis: a review. Childs Nerv Syst. 2007;23(3):269-281. doi:10.1007/s00381-006-0251-z
Fassl V, Ellermann L, Reichelt G, et al. Endoscopic treatment of sagittal suture synostosis - a critical analysis of current management strategies. Neurosurg Rev. 2022;45(4):2533-2546. doi:10.1007/s10143-022-01762-y
Jane JA Jr, Lin KY, Jane JA Sr. Sagittal synostosis. Neurosurg Focus. 2000;9(3):e3. Published 2000 Sep 15. doi:10.3171/foc.2000.9.3.4
Wang JC, Nagy L, Demke JC. Syndromic Craniosynostosis. Facial Plast Surg Clin North Am. 2016;24(4):531-543. doi:10.1016/j.fsc.2016.06.008
van der Meulen J, van der Hulst R, van Adrichem L, et al. The increase of metopic synostosis: a pan-European observation. J Craniofac Surg. 2009;20(2):283-286. doi:10.1097/scs.0b013e31818436be
Agochukwu NB, Solomon BD, Muenke M. Hearing loss in syndromic craniosynostoses: otologic manifestations and clinical findings. Int J Pediatr Otorhinolaryngol. 2014;78(12):2037-2047. doi:10.1016/j.ijporl.2014.09.019
Bannink N, Nout E, Wolvius EB, Hoeve HL, Joosten KF, Mathijssen IM. Obstructive sleep apnea in children with syndromic craniosynostosis: long-term respiratory outcome of midface advancement. Int J Oral Maxillofac Surg. 2010;39(2):115-121. doi:10.1016/j.ijom.2009.11.021
Willington AJ, Ramsden JD. Adenotonsillectomy for the management of obstructive sleep apnea in children with congenital craniosynostosis syndromes. J Craniofac Surg. 2012;23(4):1020-1022. doi:10.1097/SCS.0b013e31824e6cf8
Nash R, Possamai V, Manjaly J, Wyatt M. The Management of Obstructive Sleep Apnea in Syndromic Craniosynostosis. J Craniofac Surg. 2015;26(6):1914-1916. doi:10.1097/SCS.0000000000002097
Kakitsuba N, Sadaoka T, Motoyama S, et al. Sleep apnea and sleep-related breathing disorders in patients with craniofacial synostosis. Acta Otolaryngol Suppl. 1994;517:6-10. doi:10.3109/00016489409124330
Ahmed J, Marucci D, Cochrane L, Heywood RL, Wyatt ME, Leighton SE. The role of the nasopharyngeal airway for obstructive sleep apnea in syndromic craniosynostosis. J Craniofac Surg. 2008;19(3):659-663. doi:10.1097/SCS.0b013e31816ae386
Sawh-Martinez R, Steinbacher DM. Syndromic Craniosynostosis. Clin Plast Surg. 2019;46(2):141-155. doi:10.1016/j.cps.2018.11.009
Derderian C, Seaward J. Syndromic craniosynostosis. Semin Plast Surg. 2012;26(2):64-75. doi:10.1055/s-0032-1320064
Foo R, Guo Y, McDonald-McGinn DM, Zackai EH, Whitaker LA, Bartlett SP. The natural history of patients treated for TWIST1-confirmed Saethre-Chotzen syndrome. Plast Reconstr Surg. 2009;124(6):2085-2095. doi:10.1097/PRS.0b013e3181bf83ce
Johnson D, Wilkie AO. Craniosynostosis. Eur J Hum Genet. 2011;19(4):369-376. doi:10.1038/ejhg.2010.235
Czerwinski M, Kolar JC, Fearon JA. Complex craniosynostosis. Plast Reconstr Surg. 2011;128(4):955-961. doi:10.1097/PRS.0b013e3182268ca6
Morris L. Management of Craniosynostosis. Facial Plast Surg. 2016;32(2):123-132. doi:10.1055/s-0036-1582228
Chong S, Wang KC, Phi JH, Lee JY, Kim SK. Minimally Invasive Suturectomy and Postoperative Helmet Therapy : Advantages and Limitations. J Korean Neurosurg Soc. 2016;59(3):227-232. doi:10.3340/jkns.2016.59.3.227
Massimi L, Caldarelli M, Tamburrini G, Paternoster G, Di Rocco C. Isolated sagittal craniosynostosis: definition, classification, and surgical indications. Childs Nerv Syst. 2012;28(9):1311-1317. doi:10.1007/s00381-012-1834-5
Rottgers SA, Lohani S, Proctor MR. Outcomes of endoscopic suturectomy with postoperative helmet therapy in bilateral coronal craniosynostosis. J Neurosurg Pediatr. 2016;18(3):281-286. doi:10.3171/2016.2.PEDS15693
Jimenez DF, Barone CM. Endoscopic technique for sagittal synostosis. Childs Nerv Syst. 2012;28(9):1333-1339. doi:10.1007/s00381-012-1768-y
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