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Neural tube defect(NTD)

MedGen UID:
18009
Concept ID:
C0027794
Congenital Abnormality
Synonyms: Neural tube defects; NTD
SNOMED CT: Neural tube defect (253098009); NTD - Neural tube defect (253098009)
 
Genes (locations): CCL2 (17q12); FUZ (19q13.33); TBXT (6q27); VANGL1 (1p13.1); VANGL2 (1q23.2)
 
HPO: HP:0045005
Monarch Initiative: MONDO:0018075
Orphanet: ORPHA3388

Definition

A neural tube defect arises when the neural tube, the embryonic precursor of the brain and spinal cord, fails to close during neurulation. The cranial region (anencephaly) or the low spine (open spina bifida; myelomeningocele) are most commonly affected although, in the severe NTD craniorachischisis, almost the entire neural tube remains open, from midbrain to low spine. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Conditions with this feature

Anophthalmia plus syndrome
MedGen UID:
322166
Concept ID:
C1833339
Disease or Syndrome
A very rare multiple congenital anomaly syndrome with characteristics of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. An autosomal recessive inheritance has been suggested.
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
MedGen UID:
767295
Concept ID:
C3554381
Disease or Syndrome
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. The brain shows cobblestone lissencephaly, a cortical malformation. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (summary by Vuillaumier-Barrot et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670).
Blepharocheilodontic syndrome 1
MedGen UID:
1632198
Concept ID:
C4551988
Disease or Syndrome
The blepharocheilodontic syndrome is a rare autosomal dominant disorder characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. An additional rare manifestation is imperforate anus (summary by Weaver et al., 2010).

Professional guidelines

PubMed

Reynolds RA, Vance EH, Shlobin NA, Bowman R, Rosseau G
Childs Nerv Syst 2023 Nov;39(11):3123-3130. Epub 2023 Apr 26 doi: 10.1007/s00381-023-05955-8. PMID: 37099139
Wilson RD, O'Connor DL
J Obstet Gynaecol Can 2022 Jun;44(6):707-719.e1. doi: 10.1016/j.jogc.2022.04.004. PMID: 35691683
Douglas Wilson R, Van Mieghem T, Langlois S, Church P
J Obstet Gynaecol Can 2021 Jan;43(1):124-139.e8. Epub 2020 Nov 17 doi: 10.1016/j.jogc.2020.11.003. PMID: 33212246

Recent clinical studies

Etiology

Fons K, Jnah AJ
Neonatal Netw 2021 Aug 1;40(5):313-320. doi: 10.1891/11-T-704. PMID: 34518383
Sanz Cortes M, Chmait RH, Lapa DA, Belfort MA, Carreras E, Miller JL, Brawura Biskupski Samaha R, Sepulveda Gonzalez G, Gielchinsky Y, Yamamoto M, Persico N, Santorum M, Otaño L, Nicolaou E, Yinon Y, Faig-Leite F, Brandt R, Whitehead W, Maiz N, Baschat A, Kosinski P, Nieto-Sanjuanero A, Chu J, Kershenovich A, Nicolaides KH
Am J Obstet Gynecol 2021 Dec;225(6):678.e1-678.e11. Epub 2021 Jun 3 doi: 10.1016/j.ajog.2021.05.044. PMID: 34089698
Kiani AK, Paolacci S, Calogero AE, Cannarella R, Di Renzo GC, Gerli S, Della Morte C, Busetto GM, De Berardinis E, Del Giudice F, Stuppia L, Facchinetti F, Dinicola S, Bertelli M
Eur Rev Med Pharmacol Sci 2021 Mar;25(5):2390-2402. doi: 10.26355/eurrev_202103_25279. PMID: 33755975
Ferrazzi E, Tiso G, Di Martino D
Eur J Obstet Gynecol Reprod Biol 2020 Oct;253:312-319. Epub 2020 Jun 13 doi: 10.1016/j.ejogrb.2020.06.012. PMID: 32868164
van Gool JD, Hirche H, Lax H, De Schaepdrijver L
Reprod Toxicol 2018 Sep;80:73-84. Epub 2018 May 16 doi: 10.1016/j.reprotox.2018.05.004. PMID: 29777755

Diagnosis

Erdoğan K, Sanlier NT, Sanlier N
J Nutr Sci 2023;12:e103. Epub 2023 Sep 26 doi: 10.1017/jns.2023.62. PMID: 37771507Free PMC Article
Akyol ME, Çelegen I, Basar I, Arabacı O
Eur Rev Med Pharmacol Sci 2022 Aug;26(15):5399-5405. doi: 10.26355/eurrev_202208_29407. PMID: 35993634
Wilson RD, O'Connor DL
J Obstet Gynaecol Can 2022 Jun;44(6):707-719.e1. doi: 10.1016/j.jogc.2022.04.004. PMID: 35691683
Fons K, Jnah AJ
Neonatal Netw 2021 Aug 1;40(5):313-320. doi: 10.1891/11-T-704. PMID: 34518383
Markovic I, Bosnjakovic P, Milenkovic Z
Curr Pediatr Rev 2020;16(3):200-205. doi: 10.2174/1573396315666191018161535. PMID: 31656152Free PMC Article

Therapy

Wilson RD, O'Connor DL
J Obstet Gynaecol Can 2022 Jun;44(6):707-719.e1. doi: 10.1016/j.jogc.2022.04.004. PMID: 35691683
Sanz Cortes M, Chmait RH, Lapa DA, Belfort MA, Carreras E, Miller JL, Brawura Biskupski Samaha R, Sepulveda Gonzalez G, Gielchinsky Y, Yamamoto M, Persico N, Santorum M, Otaño L, Nicolaou E, Yinon Y, Faig-Leite F, Brandt R, Whitehead W, Maiz N, Baschat A, Kosinski P, Nieto-Sanjuanero A, Chu J, Kershenovich A, Nicolaides KH
Am J Obstet Gynecol 2021 Dec;225(6):678.e1-678.e11. Epub 2021 Jun 3 doi: 10.1016/j.ajog.2021.05.044. PMID: 34089698
van Gool JD, Hirche H, Lax H, De Schaepdrijver L
Reprod Toxicol 2018 Sep;80:73-84. Epub 2018 May 16 doi: 10.1016/j.reprotox.2018.05.004. PMID: 29777755
Chitayat D, Matsui D, Amitai Y, Kennedy D, Vohra S, Rieder M, Koren G
J Clin Pharmacol 2016 Feb;56(2):170-5. Epub 2015 Nov 5 doi: 10.1002/jcph.616. PMID: 26272218Free PMC Article
Lancet 1991 Jul 20;338(8760):131-7. PMID: 1677062

Prognosis

Lu VM
Childs Nerv Syst 2023 Nov;39(11):3103-3109. Epub 2023 May 13 doi: 10.1007/s00381-023-05985-2. PMID: 37178370
Akyol ME, Çelegen I, Basar I, Arabacı O
Eur Rev Med Pharmacol Sci 2022 Aug;26(15):5399-5405. doi: 10.26355/eurrev_202208_29407. PMID: 35993634
Sanz Cortes M, Chmait RH, Lapa DA, Belfort MA, Carreras E, Miller JL, Brawura Biskupski Samaha R, Sepulveda Gonzalez G, Gielchinsky Y, Yamamoto M, Persico N, Santorum M, Otaño L, Nicolaou E, Yinon Y, Faig-Leite F, Brandt R, Whitehead W, Maiz N, Baschat A, Kosinski P, Nieto-Sanjuanero A, Chu J, Kershenovich A, Nicolaides KH
Am J Obstet Gynecol 2021 Dec;225(6):678.e1-678.e11. Epub 2021 Jun 3 doi: 10.1016/j.ajog.2021.05.044. PMID: 34089698
Markovic I, Bosnjakovic P, Milenkovic Z
Curr Pediatr Rev 2020;16(3):200-205. doi: 10.2174/1573396315666191018161535. PMID: 31656152Free PMC Article
Chitayat D, Matsui D, Amitai Y, Kennedy D, Vohra S, Rieder M, Koren G
J Clin Pharmacol 2016 Feb;56(2):170-5. Epub 2015 Nov 5 doi: 10.1002/jcph.616. PMID: 26272218Free PMC Article

Clinical prediction guides

Wilson RD, O'Connor DL
J Obstet Gynaecol Can 2022 Jun;44(6):707-719.e1. doi: 10.1016/j.jogc.2022.04.004. PMID: 35691683
Sanz Cortes M, Chmait RH, Lapa DA, Belfort MA, Carreras E, Miller JL, Brawura Biskupski Samaha R, Sepulveda Gonzalez G, Gielchinsky Y, Yamamoto M, Persico N, Santorum M, Otaño L, Nicolaou E, Yinon Y, Faig-Leite F, Brandt R, Whitehead W, Maiz N, Baschat A, Kosinski P, Nieto-Sanjuanero A, Chu J, Kershenovich A, Nicolaides KH
Am J Obstet Gynecol 2021 Dec;225(6):678.e1-678.e11. Epub 2021 Jun 3 doi: 10.1016/j.ajog.2021.05.044. PMID: 34089698
Kiani AK, Paolacci S, Calogero AE, Cannarella R, Di Renzo GC, Gerli S, Della Morte C, Busetto GM, De Berardinis E, Del Giudice F, Stuppia L, Facchinetti F, Dinicola S, Bertelli M
Eur Rev Med Pharmacol Sci 2021 Mar;25(5):2390-2402. doi: 10.26355/eurrev_202103_25279. PMID: 33755975
Lee S, Gleeson JG
Trends Neurosci 2020 Jul;43(7):519-532. Epub 2020 May 15 doi: 10.1016/j.tins.2020.04.009. PMID: 32423763Free PMC Article
Chitayat D, Matsui D, Amitai Y, Kennedy D, Vohra S, Rieder M, Koren G
J Clin Pharmacol 2016 Feb;56(2):170-5. Epub 2015 Nov 5 doi: 10.1002/jcph.616. PMID: 26272218Free PMC Article

Recent systematic reviews

Viswanathan M, Urrutia RP, Hudson KN, Middleton JC, Kahwati LC
JAMA 2023 Aug 1;330(5):460-466. doi: 10.1001/jama.2023.9864. PMID: 37526714
Salari N, Fatahi B, Fatahian R, Mohammadi P, Rahmani A, Darvishi N, Keivan M, Shohaimi S, Mohammadi M
Reprod Health 2022 Oct 17;19(1):201. doi: 10.1186/s12978-022-01509-4. PMID: 36253858Free PMC Article
Vena F, D'Ambrosio V, Paladini V, Saluzzi E, Di Mascio D, Boccherini C, Spiniello L, Mondo A, Pizzuti A, Giancotti A
J Matern Fetal Neonatal Med 2022 Dec;35(25):7296-7305. Epub 2021 Jul 5 doi: 10.1080/14767058.2021.1946789. PMID: 34219595
Paslaru FG, Panaitescu AM, Iancu G, Veduta A, Gica N, Paslaru AC, Gheorghiu A, Peltecu G, Gorgan RM
Medicina (Kaunas) 2021 Jul 12;57(7) doi: 10.3390/medicina57070707. PMID: 34356988Free PMC Article
Du RY, LoPresti MA, Hadley CC, Lam S
Childs Nerv Syst 2019 Apr;35(4):637-644. Epub 2018 Dec 14 doi: 10.1007/s00381-018-4023-3. PMID: 30552445

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