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Neural tube defects, susceptibility to(NTD)

MedGen UID:
856010
Concept ID:
C3891448
Finding
Synonyms: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO; NTD
 
Monarch Initiative: MONDO:0020705
OMIM®: 182940

Definition

Neural tube defects are the second most common type of birth defect after congenital heart defects. The 2 most common NTDs are open spina bifida, also known as spina bifida cystica (SBC) or myelomeningocele, and anencephaly (see 206500) (Detrait et al., 2005). Spina bifida occulta (SBO), a bony defect of the spine covered by normal skin, is a mild form of spina bifida that is often asymptomatic. The term 'spinal dysraphia' refers to both SBC and SBO (Botto et al., 1999; Fineman et al., 1982). The most severe neural tube defect, craniorachischisis (CRN), leaves the neural tube open from the midbrain or rostral hindbrain to the base of the spine (summary by Robinson et al., 2012). Neural tube defects represent a complex trait with multifactorial etiology encompassing both genetic and environmental components (summary by Bartsch et al., 2012 and Lei et al., 2014). An X-linked form of spina bifida has been suggested; see 301410. See also folate-sensitive neural tube defects (601634), which are caused by genes involved in folate metabolism. [from OMIM]

Clinical features

From HPO
Urinary incontinence
MedGen UID:
22579
Concept ID:
C0042024
Finding
Loss of the ability to control the urinary bladder leading to involuntary urination.
Lipoma
MedGen UID:
44173
Concept ID:
C0023798
Neoplastic Process
Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous.
Multiple lipomas
MedGen UID:
677074
Concept ID:
C0745730
Finding
The presence of multiple lipomas (a type of benign tissue made of fatty tissue).
Anencephaly
MedGen UID:
8068
Concept ID:
C0002902
Congenital Abnormality
Anencephaly is a condition that prevents the normal development of the brain and the bones of the skull. This condition results when a structure called the neural tube fails to close during the first few weeks of embryonic development. The neural tube is a layer of cells that ultimately develops into the brain and spinal cord. Because anencephaly is caused by abnormalities of the neural tube, it is classified as a neural tube defect.\n\nBecause the neural tube fails to close properly, the developing brain and spinal cord are exposed to the amniotic fluid that surrounds the fetus in the womb. This exposure causes the nervous system tissue to break down (degenerate). As a result, people with anencephaly are missing large parts of the brain called the cerebrum and cerebellum. These brain regions are necessary for thinking, hearing, vision, emotion, and coordinating movement. The bones of the skull are also missing or incompletely formed.\n\nBecause these nervous system abnormalities are so severe, almost all babies with anencephaly die before birth or within a few hours or days after birth.
Hydrocephalus
MedGen UID:
9335
Concept ID:
C0020255
Disease or Syndrome
Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
Myelomeningocele
MedGen UID:
7538
Concept ID:
C0025312
Congenital Abnormality
Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column.
Spina bifida occulta
MedGen UID:
36380
Concept ID:
C0080174
Congenital Abnormality
The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin.
Absence of the sacrum
MedGen UID:
83373
Concept ID:
C0344490
Congenital Abnormality
Absence (aplasia) of the sacrum.
Asymmetry of spinal facet joints
MedGen UID:
870231
Concept ID:
C4024669
Anatomical Abnormality
Sacral dimple
MedGen UID:
98428
Concept ID:
C0426848
Finding
A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft.

Professional guidelines

PubMed

Richter B, Stegmann K, Röper B, Böddeker I, Ngo ET, Koch MC
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Recent clinical studies

Etiology

Crider K, Williams J, Qi YP, Gutman J, Yeung L, Mai C, Finkelstain J, Mehta S, Pons-Duran C, Menéndez C, Moraleda C, Rogers L, Daniels K, Green P
Cochrane Database Syst Rev 2022 Feb 1;2(2022) doi: 10.1002/14651858.CD014217. PMID: 36321557Free PMC Article
Zhang L, Xu X, Sun K, Sun J, Wang Y, Liu Y, Yang N, Tao C, Cai B, Shi G, Zhang F, Shi J
Am J Med Genet A 2019 Jun;179(6):936-939. Epub 2019 Mar 18 doi: 10.1002/ajmg.a.61088. PMID: 30883014
James WPT, Johnson RJ, Speakman JR, Wallace DC, Frühbeck G, Iversen PO, Stover PJ
J Intern Med 2019 May;285(5):533-549. Epub 2019 Feb 17 doi: 10.1111/joim.12878. PMID: 30772945
Greene ND, Copp AJ
Annu Rev Neurosci 2014;37:221-42. doi: 10.1146/annurev-neuro-062012-170354. PMID: 25032496Free 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

Samuels M, Northrup H
Am J Med Genet A 2024 Oct;194(10):e63776. Epub 2024 Jun 7 doi: 10.1002/ajmg.a.63776. PMID: 38847235
Crider K, Williams J, Qi YP, Gutman J, Yeung L, Mai C, Finkelstain J, Mehta S, Pons-Duran C, Menéndez C, Moraleda C, Rogers L, Daniels K, Green P
Cochrane Database Syst Rev 2022 Feb 1;2(2022) doi: 10.1002/14651858.CD014217. PMID: 36321557Free PMC Article
Zhang L, Xu X, Sun K, Sun J, Wang Y, Liu Y, Yang N, Tao C, Cai B, Shi G, Zhang F, Shi J
Am J Med Genet A 2019 Jun;179(6):936-939. Epub 2019 Mar 18 doi: 10.1002/ajmg.a.61088. PMID: 30883014
Mastrangelo M, Tolve M, Martinelli M, Di Noia SP, Parrini E, Leuzzi V
Am J Med Genet A 2018 Dec;176(12):2841-2845. Epub 2018 Oct 22 doi: 10.1002/ajmg.a.40625. PMID: 30345727
Greene ND, Copp AJ
Annu Rev Neurosci 2014;37:221-42. doi: 10.1146/annurev-neuro-062012-170354. PMID: 25032496Free PMC Article

Therapy

Crider K, Williams J, Qi YP, Gutman J, Yeung L, Mai C, Finkelstain J, Mehta S, Pons-Duran C, Menéndez C, Moraleda C, Rogers L, Daniels K, Green P
Cochrane Database Syst Rev 2022 Feb 1;2(2022) doi: 10.1002/14651858.CD014217. PMID: 36321557Free PMC Article
Greene ND, Leung KY, Copp AJ
Birth Defects Res 2017 Jan 30;109(2):68-80. doi: 10.1002/bdra.23533. PMID: 27324558Free PMC Article
Greene ND, Copp AJ
Annu Rev Neurosci 2014;37:221-42. doi: 10.1146/annurev-neuro-062012-170354. PMID: 25032496Free 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
Anderson TE, Drummond DS, Breed AL, Taylor CA
J Pediatr Orthop 1981;1(4):401-3. doi: 10.1097/01241398-198112000-00008. PMID: 7334119

Prognosis

Crider K, Williams J, Qi YP, Gutman J, Yeung L, Mai C, Finkelstain J, Mehta S, Pons-Duran C, Menéndez C, Moraleda C, Rogers L, Daniels K, Green P
Cochrane Database Syst Rev 2022 Feb 1;2(2022) doi: 10.1002/14651858.CD014217. PMID: 36321557Free PMC Article
Kubal WS
Radiol Clin North Am 2012 Jan;50(1):15-41. doi: 10.1016/j.rcl.2011.08.010. PMID: 22099485
Bowman RM, Boshnjaku V, McLone DG
Childs Nerv Syst 2009 Jul;25(7):801-6. Epub 2009 Mar 27 doi: 10.1007/s00381-009-0865-z. PMID: 19326126
Filler AG, Britton JA, Uttley D, Marsh HT
Br J Neurosurg 1995;9(5):659-66. PMID: 8561939
Laatsch LK, Dorman C, Hurley AD
Z Kinderchir 1984 Dec;39 Suppl 2:125-8. doi: 10.1055/s-2008-1044304. PMID: 6524104

Clinical prediction guides

Crider K, Williams J, Qi YP, Gutman J, Yeung L, Mai C, Finkelstain J, Mehta S, Pons-Duran C, Menéndez C, Moraleda C, Rogers L, Daniels K, Green P
Cochrane Database Syst Rev 2022 Feb 1;2(2022) doi: 10.1002/14651858.CD014217. PMID: 36321557Free PMC Article
Cho W, Shepard N, Arlet V
Eur Spine J 2018 Jul;27(Suppl 3):533-537. Epub 2018 Apr 18 doi: 10.1007/s00586-018-5604-2. PMID: 29671107
Joó JG, Csaba Á, Szigeti Z, Rigó J Jr
Pathol Res Pract 2013 Jul;209(7):409-12. Epub 2013 Apr 17 doi: 10.1016/j.prp.2013.04.003. PMID: 23706941
Radmanesh F, Caglayan AO, Silhavy JL, Yilmaz C, Cantagrel V, Omar T, Rosti B, Kaymakcalan H, Gabriel S, Li M, Sestan N, Bilguvar K, Dobyns WB, Zaki MS, Gunel M, Gleeson JG
Am J Hum Genet 2013 Mar 7;92(3):468-74. doi: 10.1016/j.ajhg.2013.02.005. PMID: 23472759Free PMC Article
Laatsch LK, Dorman C, Hurley AD
Z Kinderchir 1984 Dec;39 Suppl 2:125-8. doi: 10.1055/s-2008-1044304. PMID: 6524104

Recent systematic reviews

Crider K, Williams J, Qi YP, Gutman J, Yeung L, Mai C, Finkelstain J, Mehta S, Pons-Duran C, Menéndez C, Moraleda C, Rogers L, Daniels K, Green P
Cochrane Database Syst Rev 2022 Feb 1;2(2022) doi: 10.1002/14651858.CD014217. PMID: 36321557Free PMC Article
Tabatabaei RS, Fatahi-Meibodi N, Meibodi B, Javaheri A, Abbasi H, Hadadan A, Bahrami R, Mirjalili SR, Karimi-Zarchi M, Neamatzadeh H
Fetal Pediatr Pathol 2022 Apr;41(2):225-241. Epub 2020 Jun 14 doi: 10.1080/15513815.2020.1775734. PMID: 32536242
Soleimani-Jadidi S, Meibodi B, Javaheri A, Tabatabaei RS, Hadadan A, Zanbagh L, Abbasi H, Bahrami R, Mirjalili SR, Karimi-Zarchi M, Neamatzadeh H
Fetal Pediatr Pathol 2022 Feb;41(1):116-133. Epub 2020 Jun 14 doi: 10.1080/15513815.2020.1764682. PMID: 32536231
Yang B, Fan S, Zhi X, Xia R, Wang Y, Zheng Q, Sun G
Clin Genet 2017 Sep;92(3):243-258. Epub 2017 Mar 15 doi: 10.1111/cge.12929. PMID: 27888505
Luteijn JM, Brown MJ, Dolk H
Hum Reprod 2014 Apr;29(4):809-23. Epub 2013 Dec 22 doi: 10.1093/humrep/det455. PMID: 24365800

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