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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

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
Susami T, Fukawa T, Miyazaki H, Sakamoto T, Morishita T, Sato Y, Kinno Y, Kurata K, Watanabe K, Asahito T, Saito I
Cleft Palate Craniofac J 2018 Apr;55(4):479-486. Epub 2018 Jan 19 doi: 10.1177/1055665617747703. PMID: 29351022

Recent clinical studies

Etiology

Raposo-Amaral CE, Ghizoni E, Raposo-Amaral CA
Adv Tech Stand Neurosurg 2023;46:245-266. doi: 10.1007/978-3-031-28202-7_13. PMID: 37318579
Tønne E, Due-Tønnessen BJ, Vigeland MD, Amundsen SS, Ribarska T, Åsten PM, Sheng Y, Helseth E, Gilfillan GD, Mero IL, Heimdal KR
Am J Med Genet A 2022 May;188(5):1464-1475. Epub 2022 Jan 25 doi: 10.1002/ajmg.a.62663. PMID: 35080095
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
Choi TM, Lijten OW, Mathijssen IMJ, Wolvius EB, Ongkosuwito EM
Clin Oral Investig 2022 Mar;26(3):2927-2936. Epub 2021 Dec 14 doi: 10.1007/s00784-021-04275-y. PMID: 34904178Free PMC Article
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

Diagnosis

Raposo-Amaral CE, de Oliveira YM, Denadai R, Raposo-Amaral CA, Ghizoni E
Childs Nerv Syst 2021 Jun;37(6):2001-2009. Epub 2021 Apr 18 doi: 10.1007/s00381-021-05169-w. PMID: 33866411
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
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
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

Therapy

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
Raposo-Amaral CE, de Oliveira YM, Denadai R, Raposo-Amaral CA, Ghizoni E
Childs Nerv Syst 2021 Jun;37(6):2001-2009. Epub 2021 Apr 18 doi: 10.1007/s00381-021-05169-w. PMID: 33866411
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
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

Prognosis

Rajkumar S, Ikeda DS, Scanlon M, Shields M, Kestle JR, Plonsker J, Brandel M, Gonda DD, Levy M, Lucas DJ, Choi PM, Ravindra VM
Childs Nerv Syst 2024 Jan;40(1):153-162. Epub 2023 Jul 18 doi: 10.1007/s00381-023-06076-y. PMID: 37462812Free 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
Tønne E, Due-Tønnessen BJ, Vigeland MD, Amundsen SS, Ribarska T, Åsten PM, Sheng Y, Helseth E, Gilfillan GD, Mero IL, Heimdal KR
Am J Med Genet A 2022 May;188(5):1464-1475. Epub 2022 Jan 25 doi: 10.1002/ajmg.a.62663. PMID: 35080095
Furtado LMF, Filho JADCV, Freitas LS, Dantas Dos Santos AK
J Pediatr (Rio J) 2022 Jul-Aug;98(4):413-418. Epub 2021 Nov 30 doi: 10.1016/j.jped.2021.10.004. PMID: 34861206Free 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

Clinical prediction guides

Tønne E, Due-Tønnessen BJ, Vigeland MD, Amundsen SS, Ribarska T, Åsten PM, Sheng Y, Helseth E, Gilfillan GD, Mero IL, Heimdal KR
Am J Med Genet A 2022 May;188(5):1464-1475. Epub 2022 Jan 25 doi: 10.1002/ajmg.a.62663. PMID: 35080095
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
Furtado LMF, Filho JADCV, Freitas LS, Dantas Dos Santos AK
J Pediatr (Rio J) 2022 Jul-Aug;98(4):413-418. Epub 2021 Nov 30 doi: 10.1016/j.jped.2021.10.004. PMID: 34861206Free 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
Chesler D, Bram R, Antwi P, Timberlake AT, DiLuna ML, Kahle KT
Childs Nerv Syst 2018 Jun;34(6):1241-1245. Epub 2018 Feb 19 doi: 10.1007/s00381-018-3754-5. PMID: 29460062

Recent systematic reviews

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
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
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
Stater BJ, Oomen KP, Modi VK
JAMA Otolaryngol Head Neck Surg 2015 Jan;141(1):73-7. doi: 10.1001/jamaoto.2014.2790. PMID: 25375853

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