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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

Therapy

Monobloc Distraction and Facial Bipartition Distraction with External Devices.
Dunaway DJ, Budden C, Ong J, James G, Jeelani NUO
Clin Plast Surg 2021 Jul;48(3):507-519. doi: 10.1016/j.cps.2021.03.004. PMID: 34051902
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
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
Complications in Posterior Cranial Vault Distraction.
Greives MR, Ware BW, Tian AG, Taylor JA, Pollack IF, Losee JE
Ann Plast Surg 2016 Feb;76(2):211-5. doi: 10.1097/SAP.0000000000000518. PMID: 25954848

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
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
Midface Morphology and Growth in Syndromic Craniosynostosis Patients Following Frontofacial Monobloc Distraction.
Tonello C, Cevidanes LHS, Ruellas ACO, Alonso N
J Craniofac Surg 2021 Jan-Feb 01;32(1):87-91. doi: 10.1097/SCS.0000000000006997. PMID: 33136785Free PMC Article
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
Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review.
Nur BG, Pehlivanoğlu S, Mıhçı E, Calışkan M, Demir D, Alper OM, Kayserili H, Lüleci G
Pediatr Neurol 2014 May;50(5):482-90. Epub 2014 Jan 11 doi: 10.1016/j.pediatrneurol.2014.01.023. PMID: 24656465

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
Monobloc Differential Distraction Osteogenesis.
Polley JW, Figueroa AA, Girotto JA, Dietze-Fiedler ML
J Craniofac Surg 2022 Jan-Feb 01;33(1):270-275. doi: 10.1097/SCS.0000000000008111. PMID: 34967523
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
Non-syndromic craniosynostosis in children: Scoping review.
Garrocho-Rangel A, Manriquez-Olmos L, Flores-Velazquez J, Rosales-Berber MA, Martinez-Rider R, Pozos-Guillen A
Med Oral Patol Oral Cir Bucal 2018 Jul 1;23(4):e421-e428. doi: 10.4317/medoral.22328. PMID: 29924758Free PMC Article

Recent systematic reviews

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
Posterior Cranial Distraction in Craniosynostosis: A Systematic Review of the Literature.
Khansa I, Drapeau AI, Pearson GD
Cleft Palate Craniofac J 2024 Aug;61(8):1302-1307. Epub 2023 Apr 13 doi: 10.1177/10556656231168548. PMID: 37052891
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
Determining the fate of cranial sutures after surgical correction of non-syndromic craniosynostosis.
Kim SY, Shin HJ, Lim SY
J Craniomaxillofac Surg 2017 Nov;45(11):1801-1808. Epub 2017 Aug 19 doi: 10.1016/j.jcms.2017.08.009. PMID: 28939204

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