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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

Hennocq Q, Paternoster G, Collet C, Amiel J, Bongibault T, Bouygues T, Cormier-Daire V, Douillet M, Dunaway DJ, Jeelani NO, van de Lande LS, Lyonnet S, Ong J, Picard A, Rickart AJ, Rio M, Schievano S, Arnaud E, Garcelon N, Khonsari RH
J Craniomaxillofac Surg 2024 Oct;52(10):1172-1187. Epub 2024 Feb 5 doi: 10.1016/j.jcms.2024.02.010. PMID: 39187417
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
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

Timberlake AT, McGee S, Allington G, Kiziltug E, Wolfe EM, Stiegler AL, Boggon TJ, Sanyoura M, Morrow M, Wenger TL, Fernandes EM, Caluseriu O, Persing JA, Jin SC, Lifton RP, Kahle KT, Kruszka P
Am J Hum Genet 2023 May 4;110(5):846-862. Epub 2023 Apr 21 doi: 10.1016/j.ajhg.2023.03.017. PMID: 37086723Free PMC Article
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
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
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
Cinalli G, Sainte-Rose C, Kollar EM, Zerah M, Brunelle F, Chumas P, Arnaud E, Marchac D, Pierre-Kahn A, Renier D
J Neurosurg 1998 Feb;88(2):209-14. doi: 10.3171/jns.1998.88.2.0209. PMID: 9452225

Diagnosis

Alperovich M, Tonello C, Mayes LC, Kahle KT
Nat Rev Dis Primers 2025 Apr 10;11(1):24. doi: 10.1038/s41572-025-00607-4. PMID: 40210850
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
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
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
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

Therapy

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
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
Sawh-Martinez R, Steinbacher DM
Clin Plast Surg 2019 Apr;46(2):141-155. doi: 10.1016/j.cps.2018.11.009. PMID: 30851747
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
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

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
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
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
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
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

Dentici ML, Niceta M, Lepri FR, Mancini C, Priolo M, Bonnard AA, Cappelletti C, Leoni C, Ciolfi A, Pizzi S, Cordeddu V, Rossi C, Ferilli M, Mucciolo M, Colona VL, Fauth C, Bellini M, Biasucci G, Sinibaldi L, Briuglia S, Gazzin A, Carli D, Memo L, Trevisson E, Schiavariello C, Luca M, Novelli A, Michot C, Sweertvaegher A, Germanaud D, Scarano E, De Luca A, Zampino G, Zenker M, Mussa A, Dallapiccola B, Cavé H, Digilio MC, Tartaglia M
Eur J Hum Genet 2024 Aug;32(8):954-963. Epub 2024 Jun 1 doi: 10.1038/s41431-024-01642-7. PMID: 38824261Free PMC Article
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
Tønne E, Due-Tønnessen BJ, Mero IL, Wiig US, Kulseth MA, Vigeland MD, Sheng Y, von der Lippe C, Tveten K, Meling TR, Helseth E, Heimdal KR
Eur J Hum Genet 2021 Jun;29(6):920-929. Epub 2020 Dec 7 doi: 10.1038/s41431-020-00788-4. PMID: 33288889Free PMC Article
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
Cinalli G, Sainte-Rose C, Kollar EM, Zerah M, Brunelle F, Chumas P, Arnaud E, Marchac D, Pierre-Kahn A, Renier D
J Neurosurg 1998 Feb;88(2):209-14. doi: 10.3171/jns.1998.88.2.0209. PMID: 9452225

Recent systematic reviews

Osborn AJ, Lange O, Roberts RM
Dev Neuropsychol 2024 Aug;49(5):191-206. Epub 2024 May 27 doi: 10.1080/87565641.2024.2357801. PMID: 38801083
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
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
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
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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