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Abnormal neural tube morphology

MedGen UID:: 1620065
•Concept ID:: C4531030
•: Anatomical Abnormality

HPO:	HP:0410043

Definition

Any structural anomaly of the hollow epithelial tube found on the dorsal side of the vertebrate embryo that develops into the central nervous system (i.e. brain and spinal cord). [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbnormal neural tube morphology

Abnormality of prenatal development or birth
- Fetal anomaly
  - Congenital Systemic Disorder
    - Abnormality of the nervous system
      - Abnormal nervous system morphology
        Morphological central nervous system abnormality
        Abnormal neural tube morphology
        Neural tube defect
        Anencephaly
        Hydranencephaly
        Cephalocele
        Atretic occipital cephalocele
        Isolated encephalocele
        Meningoencephalocele
        Chiari malformation
        Chiari malformation type III
        Chiari malformation type IV
        Chiari type I malformation
        Chiari type II malformation
        Closed neural tube defect
        Dermal sinus tract
        Lipomyelomeningocele
        Meningocele
        Myelopathy
        Congenital meningocele
        Congenital cerebral meningocele
        Congenital spinal meningocele
        Craniorachischisis
        Holorachischisis
        Iniencephaly
        Closed iniencephaly
        Open iniencephaly
        Meningohydroencephalocele
        Myelomeningocele
        Cervical meningomyelocele
        Cervical spina bifida cystica
        Cervicothoracic spina bifida cystica
        Lumbar meningomyelocele
        Lumbosacral spina bifida cystica
        Sacral meningocele
        Thoracic meningomyelocele
        Thoracolumbosacral spina bifida cystica
        Total spina bifida cystica
        Upper thoracic spina bifida cystica
        Neural tube defects, susceptibility to
        Open neural tube defect
        Encephalocele
        Exencephaly
        Myeloschisis
        Pentalogy of Cantrell
        Spina bifida
        Cervical spina bifida
        Spina bifida cystica
        Spina bifida occulta
        Spinal dysraphism

Professional guidelines

PubMed

Practice Bulletin No. 187: Neural Tube Defects.

Obstet Gynecol 2017 Dec;130(6):e279-e290. doi: 10.1097/AOG.0000000000002412. PMID: 29189693

Genomic approaches to the assessment of human spina bifida risk.

Ross ME, Mason CE, Finnell RH
Birth Defects Res 2017 Jan 30;109(2):120-128. doi: 10.1002/bdra.23592. PMID: 27883265 Free PMC Article

Prenatal diagnosis.

Paek B, Goldberg JD, Albanese CT
World J Surg 2003 Jan;27(1):27-37. doi: 10.1007/s00268-002-6734-5. PMID: 12557035

See all (112)

Recent clinical studies

Etiology

Iniencephaly.

Holmes LB, Toufaily MH, Westgate MN
Birth Defects Res 2018 Jan;110(2):128-133. doi: 10.1002/bdr2.1082. PMID: 29377645

Nutritional role of folate.

Ebara S
Congenit Anom (Kyoto) 2017 Sep;57(5):138-141. Epub 2017 Jul 25 doi: 10.1111/cga.12233. PMID: 28603928

Neural tube closure: cellular, molecular and biomechanical mechanisms.

Nikolopoulou E, Galea GL, Rolo A, Greene ND, Copp AJ
Development 2017 Feb 15;144(4):552-566. doi: 10.1242/dev.145904. PMID: 28196803 Free PMC Article

Spinal cord malformations.

Zerah M, Kulkarni AV
Handb Clin Neurol 2013;112:975-91. doi: 10.1016/B978-0-444-52910-7.00018-0. PMID: 23622306

Tethered cord syndrome: an updated review.

Lew SM, Kothbauer KF
Pediatr Neurosurg 2007;43(3):236-48. doi: 10.1159/000098836. PMID: 17409793

See all (751)

Diagnosis

Exencephaly-anencephaly Sequence.

Society for Maternal-Fetal Medicine, Monteagudo A
Am J Obstet Gynecol 2020 Dec;223(6):B5-B8. Epub 2020 Nov 7 doi: 10.1016/j.ajog.2020.08.176. PMID: 33168213

Occipital Encephalocele: Cause, Incidence, Neuroimaging and Surgical Management.

Markovic I, Bosnjakovic P, Milenkovic Z
Curr Pediatr Rev 2020;16(3):200-205. doi: 10.2174/1573396315666191018161535. PMID: 31656152 Free PMC Article

Practice Bulletin No. 187: Neural Tube Defects.

Obstet Gynecol 2017 Dec;130(6):e279-e290. doi: 10.1097/AOG.0000000000002412. PMID: 29189693

Nutritional role of folate.

Ebara S
Congenit Anom (Kyoto) 2017 Sep;57(5):138-141. Epub 2017 Jul 25 doi: 10.1111/cga.12233. PMID: 28603928

Acalvaria.

Hawasli AH, Beaumont TL, Vogel TW, Woo AS, Leonard JR
J Neurosurg Pediatr 2014 Aug;14(2):200-2. Epub 2014 Jun 13 doi: 10.3171/2014.5.PEDS13688. PMID: 24926969

See all (984)

Therapy

Practice Bulletin No. 187: Neural Tube Defects.

Obstet Gynecol 2017 Dec;130(6):e279-e290. doi: 10.1097/AOG.0000000000002412. PMID: 29189693

Nutritional role of folate.

Ebara S
Congenit Anom (Kyoto) 2017 Sep;57(5):138-141. Epub 2017 Jul 25 doi: 10.1111/cga.12233. PMID: 28603928

Neural tube closure and embryonic metabolism.

Yamaguchi Y, Miyazawa H, Miura M
Congenit Anom (Kyoto) 2017 Sep;57(5):134-137. Epub 2017 May 31 doi: 10.1111/cga.12219. PMID: 28295633

The interplay between DNA methylation, folate and neurocognitive development.

Irwin RE, Pentieva K, Cassidy T, Lees-Murdock DJ, McLaughlin M, Prasad G, McNulty H, Walsh CP
Epigenomics 2016 Jun;8(6):863-79. Epub 2016 Jun 20 doi: 10.2217/epi-2016-0003. PMID: 27319574

Obstetric MRI.

Levine D
J Magn Reson Imaging 2006 Jul;24(1):1-15. doi: 10.1002/jmri.20608. PMID: 16736491

See all (229)

Prognosis

Occipital Encephalocele: Cause, Incidence, Neuroimaging and Surgical Management.

Markovic I, Bosnjakovic P, Milenkovic Z
Curr Pediatr Rev 2020;16(3):200-205. doi: 10.2174/1573396315666191018161535. PMID: 31656152 Free PMC Article

Nervous System Malformations.

Gaitanis J, Tarui T
Continuum (Minneap Minn) 2018 Feb;24(1, Child Neurology):72-95. doi: 10.1212/CON.0000000000000561. PMID: 29432238 Free PMC Article

Sacral dimples.

Zywicke HA, Rozzelle CJ
Pediatr Rev 2011 Mar;32(3):109-13; quiz 114, 151. doi: 10.1542/pir.32-3-109. PMID: 21364014

Meroacrania.

Tubbs RS, Blount JP
Pediatr Neurosurg 2004 Mar-Apr;40(2):95-6. doi: 10.1159/000078919. PMID: 15292644

Spinal lipomas.

Blount JP, Elton S
Neurosurg Focus 2001 Jan 15;10(1):e3. doi: 10.3171/foc.2001.10.1.4. PMID: 16749755

See all (397)

Clinical prediction guides

The Chicken as a Model Organism to Study Heart Development.

Wittig JG, Münsterberg A
Cold Spring Harb Perspect Biol 2020 Aug 3;12(8) doi: 10.1101/cshperspect.a037218. PMID: 31767650 Free PMC Article

Tethered cord syndrome and transitional vertebrae.

Apaydin M
Surg Radiol Anat 2020 Feb;42(2):111-119. Epub 2019 Sep 19 doi: 10.1007/s00276-019-02341-5. PMID: 31538247

Zika Virus Infection in Pregnancy: Maternal, Fetal, and Neonatal Considerations.

Zorrilla CD, García García I, García Fragoso L, De La Vega A
J Infect Dis 2017 Dec 16;216(suppl_10):S891-S896. doi: 10.1093/infdis/jix448. PMID: 29267916 Free PMC Article

Apoptosis, Expression of PAX3 and P53, and Caspase Signal in Fetuses with Neural Tube Defects.

Wang L, Lin S, Yi D, Huang Y, Wang C, Jin L, Liu J, Zhang Y, Ren A
Birth Defects Res 2017 Nov 15;109(19):1596-1604. Epub 2017 Aug 8 doi: 10.1002/bdr2.1094. PMID: 28786179

Neuropathology of holoprosencephaly.

Marcorelles P, Laquerriere A
Am J Med Genet C Semin Med Genet 2010 Feb 15;154C(1):109-19. doi: 10.1002/ajmg.c.30249. PMID: 20104606

See all (430)

Recent systematic reviews

Split cord malformation concomitant with spinal teratoma without open spinal dysraphism.

Hazneci J, Bastacı F, Börekci A, Öztürk ÖÇ, İş M, Somay A, Ekşi MŞ, Çelikoğlu E
Childs Nerv Syst 2022 Oct;38(10):1977-1986. Epub 2022 Jun 10 doi: 10.1007/s00381-022-05578-5. PMID: 35687168

Perinatal outcomes of iatrogenic chorioamniotic separation following fetoscopic surgery: systematic review and meta-analysis.

Nassr AA, Hessami K, Shazly SA, Meshinchi N, Corroenne R, Espinoza J, Donepudi R, Sanz Cortes M, Belfort MA, Shamshirsaz AA
Ultrasound Obstet Gynecol 2021 Sep;58(3):347-353. doi: 10.1002/uog.23588. PMID: 33428299

Incidence of intraspinal abnormalities in congenital scoliosis: a systematic review and meta-analysis.

Wang X, Yu Y, Yang N, Xia L
J Orthop Surg Res 2020 Oct 21;15(1):485. doi: 10.1186/s13018-020-02015-8. PMID: 33087139 Free PMC Article

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

See all (4)

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Abnormal neural tube morphology

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Consumer resources

Reviews

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