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Syndromic craniosynostosis

MedGen UID:
1842203
•Concept ID:
C5680624
•
Disease or Syndrome
Synonyms: syndrome associated with craniosynostosis; syndromic craniosynostosis
 
Monarch Initiative: MONDO:0015338
Orphanet: ORPHA139393

Definition

A craniosynostosis that is part of a larger syndrome. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Syndromic craniosynostosis

Professional guidelines

PubMed

Syndromic Craniosynostosis: Unique Management Considerations.
Hersh DS, Hughes CD
Neurosurg Clin N Am 2022 Jan;33(1):105-112. Epub 2021 Oct 26 doi: 10.1016/j.nec.2021.09.008. PMID: 34801135
Differential diagnosis of syndromic craniosynostosis: a case series.
Casteleyn T, Horn D, Henrich W, Verlohren S
Arch Gynecol Obstet 2022 Jul;306(1):49-57. Epub 2021 Oct 11 doi: 10.1007/s00404-021-06263-9. PMID: 34633507Free PMC Article
Ophthalmological management in craniosynostosis.
Touzé R, Bremond-Gignac D, Robert MP
Neurochirurgie 2019 Nov;65(5):310-317. Epub 2019 Sep 28 doi: 10.1016/j.neuchi.2019.09.016. PMID: 31574284

Recent clinical studies

Etiology

Optic Nerve Atrophy in Syndromic Craniosynostosis.
Fearon JA, Barrientos S, Ditthakasem K, Herbert M
Plast Reconstr Surg 2022 Aug 1;150(2):381e-386e. Epub 2022 Jun 8 doi: 10.1097/PRS.0000000000009367. PMID: 35671456
Secondary Le Fort III after Early Fronto-Facial Monobloc Normalizes Sleep Apnea in Faciocraniosynostosis: A Cohort Study.
Haber SE, Leikola J, Nowinski D, Fauroux B, Morisseau-Durand MP, Paternoster G, Khonsari RH, Arnaud E
J Plast Reconstr Aesthet Surg 2022 Aug;75(8):2706-2718. Epub 2022 Mar 1 doi: 10.1016/j.bjps.2022.02.044. PMID: 35431130
Syndromic Craniosynostosis: Unique Management Considerations.
Hersh DS, Hughes CD
Neurosurg Clin N Am 2022 Jan;33(1):105-112. Epub 2021 Oct 26 doi: 10.1016/j.nec.2021.09.008. PMID: 34801135
Posterior Cranial Vault Distraction Osteogenesis with Barrel Stave Osteotomy in the Treatment of Craniosynostosis.
Komuro Y, Shimizu A, Shimoji K, Miyajima M, Arai H
Neurol Med Chir (Tokyo) 2015;55(8):617-23. Epub 2015 Jul 28 doi: 10.2176/nmc.ra.2014-0401. PMID: 26226978Free PMC Article
Genetics of craniosynostosis.
Kimonis V, Gold JA, Hoffman TL, Panchal J, Boyadjiev SA
Semin Pediatr Neurol 2007 Sep;14(3):150-61. doi: 10.1016/j.spen.2007.08.008. PMID: 17980312

Diagnosis

Syndromic Craniofacial Disorders.
Tibesar RJ, Scott AR
Facial Plast Surg Clin North Am 2024 Feb;32(1):141-156. Epub 2023 Aug 23 doi: 10.1016/j.fsc.2023.07.002. PMID: 37981410
Orthognathic Surgery in Patients with Syndromic Craniosynostosis.
Han JT, Egbert MA, Ettinger RE, Kapadia HP, Susarla SM
Oral Maxillofac Surg Clin North Am 2022 Aug;34(3):477-487. Epub 2022 Jul 2 doi: 10.1016/j.coms.2022.01.003. PMID: 35787829
Craniosynostosis and oculomotor disorders.
Dalmas F, Pech-Gourg G, Gallucci A, Denis D, Scavarda D
Neurochirurgie 2020 Apr;66(2):91-96. Epub 2019 Dec 19 doi: 10.1016/j.neuchi.2019.10.010. PMID: 31866515
Syndromic Craniosynostosis.
Wang JC, Nagy L, Demke JC
Facial Plast Surg Clin North Am 2016 Nov;24(4):531-543. doi: 10.1016/j.fsc.2016.06.008. PMID: 27712819
Craniofacial anomalies.
Nagy L, Demke JC
Facial Plast Surg Clin North Am 2014 Nov;22(4):523-48. Epub 2014 Nov 8 doi: 10.1016/j.fsc.2014.08.002. PMID: 25444726

Therapy

Craniosynostosis and hydrocephalus: relevance and treatment modalities.
Frassanito P, Palombi D, Tamburrini G
Childs Nerv Syst 2021 Nov;37(11):3465-3473. Epub 2021 Apr 7 doi: 10.1007/s00381-021-05158-z. PMID: 33829280
Adenotonsillectomy in children with syndromic craniosynostosis: a systematic review and meta-analysis.
Saengthong P, Chaitusaney B, Hirunwiwatkul P, Charakorn N
Eur Arch Otorhinolaryngol 2019 Jun;276(6):1555-1560. Epub 2019 Apr 17 doi: 10.1007/s00405-019-05427-3. PMID: 30997567
Syndromic Craniosynostosis.
Sawh-Martinez R, Steinbacher DM
Clin Plast Surg 2019 Apr;46(2):141-155. doi: 10.1016/j.cps.2018.11.009. PMID: 30851747
Nonsyndromic Craniosynostosis.
Dempsey RF, Monson LA, Maricevich RS, Truong TA, Olarunnipa S, Lam SK, Dauser RC, Hollier LH Jr, Buchanan EP
Clin Plast Surg 2019 Apr;46(2):123-139. Epub 2019 Jan 30 doi: 10.1016/j.cps.2018.11.001. PMID: 30851746
Serious Complications After Le Fort III Distraction Osteogenesis in Syndromic Craniosynostosis: Evolution of Preventive and Therapeutic Strategies.
Raposo-Amaral CE, Denadai R, Pereira-Filho JC, Vieira PH, Ghizoni E, Raposo-Amaral CA
J Craniofac Surg 2018 Sep;29(6):1397-1401. doi: 10.1097/SCS.0000000000004770. PMID: 29944568

Prognosis

Optic Nerve Atrophy in Syndromic Craniosynostosis.
Fearon JA, Barrientos S, Ditthakasem K, Herbert M
Plast Reconstr Surg 2022 Aug 1;150(2):381e-386e. Epub 2022 Jun 8 doi: 10.1097/PRS.0000000000009367. PMID: 35671456
Secondary Le Fort III after Early Fronto-Facial Monobloc Normalizes Sleep Apnea in Faciocraniosynostosis: A Cohort Study.
Haber SE, Leikola J, Nowinski D, Fauroux B, Morisseau-Durand MP, Paternoster G, Khonsari RH, Arnaud E
J Plast Reconstr Aesthet Surg 2022 Aug;75(8):2706-2718. Epub 2022 Mar 1 doi: 10.1016/j.bjps.2022.02.044. PMID: 35431130
Incidence of Non-Syndromic and Syndromic Craniosynostosis in Sweden.
Tarnow P, Kölby L, Maltese G, Söfteland MB, Lewén A, Nilsson P, Enblad P, Nowinski D
J Craniofac Surg 2022 Jul-Aug 01;33(5):1517-1520. Epub 2022 Jan 12 doi: 10.1097/SCS.0000000000008457. PMID: 35025825
Nonsyndromic Craniosynostosis.
Dempsey RF, Monson LA, Maricevich RS, Truong TA, Olarunnipa S, Lam SK, Dauser RC, Hollier LH Jr, Buchanan EP
Clin Plast Surg 2019 Apr;46(2):123-139. Epub 2019 Jan 30 doi: 10.1016/j.cps.2018.11.001. PMID: 30851746
Optic Nerve Hypoplasia and Crouzon Syndrome.
Eves D, O'Connor SJ, Boyle MA
J Pediatr Ophthalmol Strabismus 2018 Dec 19;55:e45-e48. doi: 10.3928/01913913-20181012-02. PMID: 30571838

Clinical prediction guides

Molecular Mechanisms Involved in Craniosynostosis.
Yapijakis C, Pachis N, Sotiriadou T, Vaila C, Michopoulou V, Vassiliou S
In Vivo 2023 Jan-Feb;37(1):36-46. doi: 10.21873/invivo.13052. PMID: 36593018Free PMC Article
Optic Nerve Atrophy in Syndromic Craniosynostosis.
Fearon JA, Barrientos S, Ditthakasem K, Herbert M
Plast Reconstr Surg 2022 Aug 1;150(2):381e-386e. Epub 2022 Jun 8 doi: 10.1097/PRS.0000000000009367. PMID: 35671456
Secondary Le Fort III after Early Fronto-Facial Monobloc Normalizes Sleep Apnea in Faciocraniosynostosis: A Cohort Study.
Haber SE, Leikola J, Nowinski D, Fauroux B, Morisseau-Durand MP, Paternoster G, Khonsari RH, Arnaud E
J Plast Reconstr Aesthet Surg 2022 Aug;75(8):2706-2718. Epub 2022 Mar 1 doi: 10.1016/j.bjps.2022.02.044. PMID: 35431130
Nonsyndromic Craniosynostosis.
Dempsey RF, Monson LA, Maricevich RS, Truong TA, Olarunnipa S, Lam SK, Dauser RC, Hollier LH Jr, Buchanan EP
Clin Plast Surg 2019 Apr;46(2):123-139. Epub 2019 Jan 30 doi: 10.1016/j.cps.2018.11.001. PMID: 30851746
Posterior Cranial Vault Distraction Osteogenesis with Barrel Stave Osteotomy in the Treatment of Craniosynostosis.
Komuro Y, Shimizu A, Shimoji K, Miyajima M, Arai H
Neurol Med Chir (Tokyo) 2015;55(8):617-23. Epub 2015 Jul 28 doi: 10.2176/nmc.ra.2014-0401. PMID: 26226978Free PMC Article

Recent systematic reviews

Craniosynostosis in Africa: Insights from 8 Countries-A Systematic Review and Meta-Analysis.
Darko K, Pulido S, Haider MA, Sivakumar M, Limann B, Tenkorang P, Odesanya O, Odiase P, Farid M, Barrie U, Braga BP, Banson M, Totimeh T
World Neurosurg 2025 Feb;194:123533. Epub 2025 Jan 8 doi: 10.1016/j.wneu.2024.11.116. PMID: 39622285
Systematic Review of Nonsyndromic Craniosynostosis: Genomic Alterations and Impacted Signaling Pathways.
Albaugh SL, Diaz A, Wang E, Shen TC, Williams L, He TC, Reid RR
Plast Reconstr Surg 2024 Feb 1;153(2):383e-396e. Epub 2023 Apr 18 doi: 10.1097/PRS.0000000000010522. PMID: 37070824
Morbidity Associated With Anterior Versus Posterior Cranial Vault Expansion for Early Treatment of Syndromic Craniosynostosis: A Systematic Review and Meta-Analysis.
Richardson IJ, Wager LE, Recker MJ, Reynolds R, Ruiz R, Markiewicz MR
J Oral Maxillofac Surg 2022 Apr;80(4):651-661. Epub 2021 Nov 13 doi: 10.1016/j.joms.2021.10.022. PMID: 34863645
Quality of life in patients with craniosynostosis and deformational plagiocephaly: A Systematic Review.
Park KM, Tripathi NV, Mufarrej FA
Int J Pediatr Otorhinolaryngol 2021 Oct;149:110873. Epub 2021 Aug 6 doi: 10.1016/j.ijporl.2021.110873. PMID: 34380097
Adenotonsillectomy in children with syndromic craniosynostosis: a systematic review and meta-analysis.
Saengthong P, Chaitusaney B, Hirunwiwatkul P, Charakorn N
Eur Arch Otorhinolaryngol 2019 Jun;276(6):1555-1560. Epub 2019 Apr 17 doi: 10.1007/s00405-019-05427-3. PMID: 30997567

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