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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.
See: This record
Non-Mendelian inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
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

Prenatal diagnosis of acrania/exencephaly/anencephaly sequence (AEAS): additional structural and genetic anomalies.
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
Neural tube defects: review of experimental evidence on stem cell therapy and newer treatment options.
Dhaulakhandi DB, Rohilla S, Rattan KN
Fetal Diagn Ther 2010;28(2):72-8. Epub 2010 Jul 31 doi: 10.1159/000318201. PMID: 20689263
Prenatal diagnosis of iniencephaly.
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

Prenatal diagnosis of craniorachischisis totalis.
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
Maternal Use of Specific Antidepressant Medications During Early Pregnancy and the Risk of Selected Birth Defects.
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
Neural tube defects--disorders of neurulation and related embryonic processes.
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
Neural tube defects: recent advances, unsolved questions, and controversies.
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
Genetics of human neural tube defects.
Greene ND, Stanier P, Copp AJ
Hum Mol Genet 2009 Oct 15;18(R2):R113-29. doi: 10.1093/hmg/ddp347. PMID: 19808787Free PMC Article

Diagnosis

Prenatal diagnosis of craniorachischisis totalis.
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
Craniorachischisis with Exencephaly.
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
Concomitant craniorachischisis and omphalocele in a male fetus: prenatal magnetic resonance imaging findings and literature review.
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
Craniorachischisis totalis: a case report and review of the literature.
Coskun A, Kiran G, Ozdemir O
Fetal Diagn Ther 2009;25(1):21-5. Epub 2009 Jan 8 doi: 10.1159/000188662. PMID: 19129707
Prenatal diagnosis of iniencephaly.
Chen CP
Taiwan J Obstet Gynecol 2007 Sep;46(3):199-208. doi: 10.1016/S1028-4559(08)60021-2. PMID: 17962097

Therapy

Prenatal diagnosis of craniorachischisis totalis.
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
Maternal Use of Specific Antidepressant Medications During Early Pregnancy and the Risk of Selected Birth Defects.
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
Neural tube defects--disorders of neurulation and related embryonic processes.
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
Neural tube defects: recent advances, unsolved questions, and controversies.
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
Neural tube defects: review of experimental evidence on stem cell therapy and newer treatment options.
Dhaulakhandi DB, Rohilla S, Rattan KN
Fetal Diagn Ther 2010;28(2):72-8. Epub 2010 Jul 31 doi: 10.1159/000318201. PMID: 20689263

Prognosis

Neural tube defects as a cause of death among stillbirths, infants, and children younger than 5 years in sub-Saharan Africa and southeast Asia: an analysis of the CHAMPS network.
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
Variants identified in PTK7 associated with neural tube defects.
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
Mutations in planar cell polarity gene SCRIB are associated with spina bifida.
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
A consideration of the evidence that genetic defects in planar cell polarity contribute to the etiology of human neural tube defects.
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
Recurrent neural tube defects associated with partial trisomy 2p22-pter: report of two siblings and review of the literature.
Doray B, Favre R, Gasser B, Girard-Lemaire F, Schluth C, Flori E
Genet Couns 2003;14(2):165-72. PMID: 12872810

Clinical prediction guides

Maternal Use of Specific Antidepressant Medications During Early Pregnancy and the Risk of Selected Birth Defects.
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
A review of genetic factors underlying craniorachischisis and omphalocele: Inspired by a unique trisomy 18 case.
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
Craniorachischisis Totalis with Congenital Diaphragmatic Hernia-A Rare Presentation of Fryns Syndrome.
Singh A, Pilli GS, Bannur H
Fetal Pediatr Pathol 2016;35(3):192-8. Epub 2016 Apr 11 doi: 10.3109/15513815.2016.1155681. PMID: 27064748
Mutations in planar cell polarity gene SCRIB are associated with spina bifida.
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
Craniorachischisis totalis and sirenomelia.
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

Diprosopus: Systematic review and report of two cases.
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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