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Craniorachischisis

MedGen UID:
56290
Concept ID:
C0152426
Congenital Abnormality
Synonym: Craniorachischisis (disease)
SNOMED CT: Craniorachischisis (32219008)
Modes of inheritance:
Non-Mendelian inheritance
MedGen UID:
109109
Concept ID:
C0600599
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
HPO: HP:0030770
Monarch Initiative: MONDO:0018969
Orphanet: ORPHA63260

Definition

A neural tube defect in which both the brain and spinal cord remain open to varying degrees. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Craniorachischisis in Orphanet.

Professional guidelines

PubMed

Bijok J, Dąbkowska S, Kucińska-Chahwan A, Massalska D, Nowakowska B, Gawlik-Zawiślak S, Panek G, Roszkowski T
Arch Gynecol Obstet 2023 Jan;307(1):293-299. Epub 2022 May 12 doi: 10.1007/s00404-022-06584-3. PMID: 35554661
Dhaulakhandi DB, Rohilla S, Rattan KN
Fetal Diagn Ther 2010;28(2):72-8. Epub 2010 Jul 31 doi: 10.1159/000318201. PMID: 20689263
Chen CP
Taiwan J Obstet Gynecol 2007 Sep;46(3):199-208. doi: 10.1016/S1028-4559(08)60021-2. PMID: 17962097

Recent clinical studies

Etiology

Madrid L, Vyas KJ, Kancherla V, Leulseged H, Suchdev PS, Bassat Q, Sow SO, El Arifeen S, Madhi SA, Onyango D, Ogbuanu I, Scott JAG, Blau D, Mandomando I, Keita AM, Gurley ES, Mahtab S, Akelo V, Sannoh S, Tilahun Y, Varo R, Onwuchekwa U, Rahman A, Adam Y, Omore R, Lako S, Xerinda E, Islam KM, Wise A, Tippet-Barr BA, Kaluma E, Ajanovic S, Kotloff KL, Hossain MZ, Mutevedzi P, Tapia MD, Rogena E, Moses F, Whitney CG, Assefa N; CHAMPS Consortium
Lancet Glob Health 2023 Jul;11(7):e1041-e1052. Epub 2023 Jun 1 doi: 10.1016/S2214-109X(23)00191-2. PMID: 37271162Free PMC Article
Costa P, Fontoura Oliveira A, Baptista Vilaça A
BMJ Case Rep 2022 Apr 25;15(4) doi: 10.1136/bcr-2021-244682. PMID: 35470163Free PMC Article
Anderson KN, Lind JN, Simeone RM, Bobo WV, Mitchell AA, Riehle-Colarusso T, Polen KN, Reefhuis J
JAMA Psychiatry 2020 Dec 1;77(12):1246-1255. doi: 10.1001/jamapsychiatry.2020.2453. PMID: 32777011Free PMC Article
Copp AJ, Greene ND
Wiley Interdiscip Rev Dev Biol 2013 Mar-Apr;2(2):213-27. Epub 2012 May 29 doi: 10.1002/wdev.71. PMID: 24009034Free PMC Article
Copp AJ, Stanier P, Greene ND
Lancet Neurol 2013 Aug;12(8):799-810. Epub 2013 Jun 19 doi: 10.1016/S1474-4422(13)70110-8. PMID: 23790957Free PMC Article

Diagnosis

Costa P, Fontoura Oliveira A, Baptista Vilaça A
BMJ Case Rep 2022 Apr 25;15(4) doi: 10.1136/bcr-2021-244682. PMID: 35470163Free PMC Article
Guerrero J, Heller DS, de Leon AB
Fetal Pediatr Pathol 2021 Oct;40(5):501-504. Epub 2020 Jan 27 doi: 10.1080/15513815.2020.1716282. PMID: 31986946
Tobin M, Gunaji R, Walsh JC, Grice GP
Am J Med Genet A 2019 Aug;179(8):1642-1651. Epub 2019 Jun 11 doi: 10.1002/ajmg.a.61255. PMID: 31184807
Chen CP, Liu YP, Tsai FJ, Chen CY, Lin HH, Wu PC, Wang W
Taiwan J Obstet Gynecol 2009 Sep;48(3):286-91. doi: 10.1016/S1028-4559(09)60306-5. PMID: 19797022
Chen CP
Taiwan J Obstet Gynecol 2007 Sep;46(3):199-208. doi: 10.1016/S1028-4559(08)60021-2. PMID: 17962097

Therapy

Chen CP
Taiwan J Obstet Gynecol 2024 Mar;63(2):260-262. doi: 10.1016/j.tjog.2024.01.027. PMID: 38485328
Costa P, Fontoura Oliveira A, Baptista Vilaça A
BMJ Case Rep 2022 Apr 25;15(4) doi: 10.1136/bcr-2021-244682. PMID: 35470163Free PMC Article
Anderson KN, Lind JN, Simeone RM, Bobo WV, Mitchell AA, Riehle-Colarusso T, Polen KN, Reefhuis J
JAMA Psychiatry 2020 Dec 1;77(12):1246-1255. doi: 10.1001/jamapsychiatry.2020.2453. PMID: 32777011Free PMC Article
Copp AJ, Greene ND
Wiley Interdiscip Rev Dev Biol 2013 Mar-Apr;2(2):213-27. Epub 2012 May 29 doi: 10.1002/wdev.71. PMID: 24009034Free PMC Article
Copp AJ, Stanier P, Greene ND
Lancet Neurol 2013 Aug;12(8):799-810. Epub 2013 Jun 19 doi: 10.1016/S1474-4422(13)70110-8. PMID: 23790957Free PMC Article

Prognosis

Namale-Matovu J, Kusolo R, Serunjogi R, Barlow-Mosha L, Mumpe-Mwanja D, Niombi N, Kalibbala D, Williamson D, Valencia D, Moore CA, Mwambi K, Nelson LJ, Namukanja-Mayambala PM, Williams JL, Mai CT, Qi YP, Musoke P
BMC Med Educ 2023 Oct 13;23(1):766. doi: 10.1186/s12909-023-04760-w. PMID: 37833686Free PMC Article
Madrid L, Vyas KJ, Kancherla V, Leulseged H, Suchdev PS, Bassat Q, Sow SO, El Arifeen S, Madhi SA, Onyango D, Ogbuanu I, Scott JAG, Blau D, Mandomando I, Keita AM, Gurley ES, Mahtab S, Akelo V, Sannoh S, Tilahun Y, Varo R, Onwuchekwa U, Rahman A, Adam Y, Omore R, Lako S, Xerinda E, Islam KM, Wise A, Tippet-Barr BA, Kaluma E, Ajanovic S, Kotloff KL, Hossain MZ, Mutevedzi P, Tapia MD, Rogena E, Moses F, Whitney CG, Assefa N; CHAMPS Consortium
Lancet Glob Health 2023 Jul;11(7):e1041-e1052. Epub 2023 Jun 1 doi: 10.1016/S2214-109X(23)00191-2. PMID: 37271162Free PMC Article
Lei Y, Kim SE, Chen Z, Cao X, Zhu H, Yang W, Shaw GM, Zheng Y, Zhang T, Wang HY, Finnell RH
Mol Genet Genomic Med 2019 Apr;7(4):e00584. Epub 2019 Jan 28 doi: 10.1002/mgg3.584. PMID: 30689296Free PMC Article
Lei Y, Zhu H, Duhon C, Yang W, Ross ME, Shaw GM, Finnell RH
PLoS One 2013;8(7):e69262. Epub 2013 Jul 26 doi: 10.1371/journal.pone.0069262. PMID: 23922697Free PMC Article
Juriloff DM, Harris MJ
Birth Defects Res A Clin Mol Teratol 2012 Oct;94(10):824-40. Epub 2012 Sep 28 doi: 10.1002/bdra.23079. PMID: 23024041

Clinical prediction guides

Namale-Matovu J, Kusolo R, Serunjogi R, Barlow-Mosha L, Mumpe-Mwanja D, Niombi N, Kalibbala D, Williamson D, Valencia D, Moore CA, Mwambi K, Nelson LJ, Namukanja-Mayambala PM, Williams JL, Mai CT, Qi YP, Musoke P
BMC Med Educ 2023 Oct 13;23(1):766. doi: 10.1186/s12909-023-04760-w. PMID: 37833686Free PMC Article
Anderson KN, Lind JN, Simeone RM, Bobo WV, Mitchell AA, Riehle-Colarusso T, Polen KN, Reefhuis J
JAMA Psychiatry 2020 Dec 1;77(12):1246-1255. doi: 10.1001/jamapsychiatry.2020.2453. PMID: 32777011Free PMC Article
Tobin M, Gunaji R, Walsh JC, Grice GP
Am J Med Genet A 2019 Aug;179(8):1642-1651. Epub 2019 Jun 11 doi: 10.1002/ajmg.a.61255. PMID: 31184807
Juriloff DM, Harris MJ
Birth Defects Res A Clin Mol Teratol 2012 Oct;94(10):824-40. Epub 2012 Sep 28 doi: 10.1002/bdra.23079. PMID: 23024041
Rodríguez JI, Palacios J
Am J Med Genet 1992 Jul 1;43(4):732-6. doi: 10.1002/ajmg.1320430416. PMID: 1621765

Recent systematic reviews

Bidondo MP, Groisman B, Tardivo A, Tomasoni F, Tejeiro V, Camacho I, Vilas M, Liascovich R, Barbero P
Birth Defects Res A Clin Mol Teratol 2016 Dec;106(12):993-1007. Epub 2016 Oct 5 doi: 10.1002/bdra.23549. PMID: 27704687

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