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Neural tube defect(NTD)

MedGen UID:
18009
Concept ID:
C0027794
Congenital Abnormality; Finding
Synonyms: Neural tube defects; NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO; NTD; VANGL1-Related Neural Tube Defect
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Neural tube defect (253098009); NTD - Neural tube defect (253098009)
 
Genes (locations): CCL2 (17q12); FUZ (19q13.33); T (6q27); VANGL1 (1p13.1); VANGL2 (1q23.2)
OMIM®: 182940
HPO: HP:0045005

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 (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]

Additional description

From GHR
Spina bifida is a condition in which the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. As a result, when the spine forms, the bones of the spinal column do not close completely around the developing nerves of the spinal cord. Part of the spinal cord may stick out through an opening in the spine, leading to permanent nerve damage. Because spina bifida is caused by abnormalities of the neural tube, it is classified as a neural tube defect.Children born with spina bifida often have a fluid-filled sac on their back that is covered by skin, called a meningocele. If the sac contains part of the spinal cord and its protective covering, it is known as a myelomeningocele. The signs and symptoms of these abnormalities range from mild to severe, depending on where the opening in the spinal column is located and how much of the spinal cord is affected. Related problems can include a loss of feeling below the level of the opening, weakness or paralysis of the feet or legs, and problems with bladder and bowel control. Some affected individuals have additional complications, including a buildup of excess fluid around the brain (hydrocephalus) and learning problems. With surgery and other forms of treatment, many people with spina bifida live into adulthood.In a milder form of the condition, called spina bifida occulta, the bones of the spinal column are abnormally formed, but the nerves of the spinal cord usually develop normally. Unlike in the more severe form of spina bifida, the nerves do not stick out through an opening in the spine. Spina bifida occulta most often causes no health problems, although rarely it can cause back pain or changes in bladder function.  https://ghr.nlm.nih.gov/condition/spina-bifida

Clinical features

Anencephalus
MedGen UID:
8068
Concept ID:
C0002902
Congenital Abnormality
Anencephaly is considered an extreme form of neural tube defect (182940), which has been associated with variation in several genes. The entity described here is believed to show autosomal recessive inheritance.
Hydrocephalus
MedGen UID:
9335
Concept ID:
C0020255
Disease or Syndrome
Autosomal recessive nonsyndromic hydrocephalus is characterized by onset in utero of enlarged ventricles due to a disturbance of cerebrospinal fluid accumulation. Affected individuals may have neurologic impairment (summary by Drielsma et al., 2012). Hydrocephalus can also be caused by Arnold-Chiari malformation, atresia of foramen of Magendie, stenosis of aqueduct of Sylvius (307000), toxoplasmosis, hydranencephaly, etc. Furthermore, it develops in infancy or childhood in achondroplasia (100800) and in Hurler disease (607014). Genetic Heterogeneity of Congenital Hydrocephalus See also autosomal recessive HYC2 (615219), caused by mutation in the MPDZ gene (603785) on chromosome 9p. An X-linked form (307000) is caused by mutation in the L1CAM gene on (308840) on chromosome Xq28.
Myelocystocele
MedGen UID:
7538
Concept ID:
C0025312
Congenital Abnormality
Herniation of spinal cord tissue and meninges through a defect in a region 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.
Multiple lipomas
MedGen UID:
677074
Concept ID:
C0745730
Finding
The presence of multiple lipomas (a type of benign tissue made of fatty tissue).

Conditions with this feature

Spondyloepimetaphyseal dysplasia with multiple dislocations
MedGen UID:
350960
Concept ID:
C1863732
Disease or Syndrome
Spondyloepimetaphyseal dysplasia with joint laxity type 2 (SEMDJL2) is characterized by short stature, distinctive midface retrusion, progressive knee malalignment (genu valgum and/or varum), generalized ligamentous laxity, and mild spinal deformity. Intellectual development is not impaired. Radiographic characteristics include significantly retarded epiphyseal ossification that evolves into epiphyseal dysplasia and precocious osteoarthritis, metaphyseal irregularities and vertical striations, constricted femoral neck, slender metacarpals and metatarsals, and mild thoracolumbar kyphosis or scoliosis with normal or mild platyspondyly (summary by Min et al., 2011). The most distinctive features for differential diagnosis of SEMDJL2 are the slender metacarpals and phalanges and the progressive degeneration of carpal bones; however, these 2 features are evident only in older children and young adults. The soft consistency of cartilage in the airways leads to laryngotracheomalacia with proneness to respiratory obstruction and inspiratory stridor in infancy and childhood (summary by Boyden et al., 2011).
Neural tube defects, folate-sensitive
MedGen UID:
355746
Concept ID:
C1866558
Disease or Syndrome
Neural tube defects have a birth incidence of approximately 1 in 1,000 in American Caucasians and are the second most common type of birth defect after congenital heart defects. The most common NTDs are open spina bifida (myelomeningocele) and anencephaly (206500) (Detrait et al., 2005). Women with elevated plasma homocysteine, low folate, or low vitamin B12 (cobalamin) are at increased risk of having a child with a neural tube defect (O'Leary et al., 2005). Motulsky (1996) cited evidence from the Centers for Disease Control ( Anonymous, 1992) that folic acid given before and during the first 4 weeks of pregnancy can prevent 50% or more of neural tube defects. Botto et al. (1999) and Detrait et al. (2005) provided reviews of neural tube defects. De Marco et al. (2006) provided a detailed review of neurulation and the possible etiologies of neural tube defects.
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
MedGen UID:
442876
Concept ID:
C2752042
Disease or Syndrome

Recent clinical studies

Etiology

Bergman JE, Otten E, Verheij JB, de Walle HE
Reprod Toxicol 2016 Jan;59:96-100. Epub 2015 Nov 25 doi: 10.1016/j.reprotox.2015.11.007. PMID: 26627544
Loeken MR
Mol Genet Metab 2014 Apr;111(4):415-7. Epub 2014 Jan 25 doi: 10.1016/j.ymgme.2014.01.010. PMID: 24503137Free PMC Article
Stolk L, Bouwland-Both MI, van Mil NH, Verbiest MM, Eilers PH, Zhu H, Suarez L, Uitterlinden AG, Steegers-Theunissen RP
PLoS One 2013 Nov 5;8(11):e78462. doi: 10.1371/journal.pone.0078462. PMID: 24223810Free PMC Article
Wang XW, Luo YL, Wang W, Zhang Y, Chen Q, Cheng YL
Am J Obstet Gynecol 2012 Mar;206(3):251.e1-7. Epub 2011 Dec 27 doi: 10.1016/j.ajog.2011.12.021. PMID: 22265089
Molloy AM, Kirke PN, Troendle JF, Burke H, Sutton M, Brody LC, Scott JM, Mills JL
Pediatrics 2009 Mar;123(3):917-23. doi: 10.1542/peds.2008-1173. PMID: 19255021Free PMC Article

Diagnosis

Melekoglu R, Eraslan S, Celik E, Simsek Y
Biomed Res Int 2016;2016:6382825. Epub 2016 Nov 23 doi: 10.1155/2016/6382825. PMID: 27999804Free PMC Article
Bergman JE, Otten E, Verheij JB, de Walle HE
Reprod Toxicol 2016 Jan;59:96-100. Epub 2015 Nov 25 doi: 10.1016/j.reprotox.2015.11.007. PMID: 26627544
Tinker SC, Hamner HC, Qi YP, Crider KS
Birth Defects Res A Clin Mol Teratol 2015 Jun;103(6):517-26. Epub 2015 Apr 17 doi: 10.1002/bdra.23378. PMID: 25884850Free PMC Article
Elgamal EA, Hassan HH, Elwatidy SM, Altwijri I, Alhabib AF, Jamjoom ZB, Murshid WR, Salih MA
Saudi Med J 2014 Dec;35 Suppl 1:S44-8. PMID: 25551111Free PMC Article
Vaze D, Mahalik S, Rao KL
Congenit Anom (Kyoto) 2012 Dec;52(4):211-5. doi: 10.1111/j.1741-4520.2011.00354.x. PMID: 23181497

Therapy

Bergman JE, Otten E, Verheij JB, de Walle HE
Reprod Toxicol 2016 Jan;59:96-100. Epub 2015 Nov 25 doi: 10.1016/j.reprotox.2015.11.007. PMID: 26627544
Godzik J, Ravindra VM, Ray WZ, Eskandari R, Dailey AT
Spine J 2015 Nov 1;15(11):e57-63. Epub 2015 Jul 30 doi: 10.1016/j.spinee.2015.07.463. PMID: 26235466
Hosper NA, Bank RA, van den Berg PP
Stem Cells Dev 2014 Mar 1;23(5):555-62. Epub 2013 Dec 6 doi: 10.1089/scd.2013.0334. PMID: 24171700
Wang XW, Luo YL, Wang W, Zhang Y, Chen Q, Cheng YL
Am J Obstet Gynecol 2012 Mar;206(3):251.e1-7. Epub 2011 Dec 27 doi: 10.1016/j.ajog.2011.12.021. PMID: 22265089
Molloy AM, Kirke PN, Troendle JF, Burke H, Sutton M, Brody LC, Scott JM, Mills JL
Pediatrics 2009 Mar;123(3):917-23. doi: 10.1542/peds.2008-1173. PMID: 19255021Free PMC Article

Prognosis

Melekoglu R, Eraslan S, Celik E, Simsek Y
Biomed Res Int 2016;2016:6382825. Epub 2016 Nov 23 doi: 10.1155/2016/6382825. PMID: 27999804Free PMC Article
Tinker SC, Hamner HC, Qi YP, Crider KS
Birth Defects Res A Clin Mol Teratol 2015 Jun;103(6):517-26. Epub 2015 Apr 17 doi: 10.1002/bdra.23378. PMID: 25884850Free PMC Article
Elgamal EA, Elwatidy SM, Alhabib AF, Jamjoom ZB, Murshid WR, Hassan HH, Salih MA
Saudi Med J 2014 Dec;35 Suppl 1:S57-63. PMID: 25551114Free PMC Article
Nosrat SB, Sedehi M, Golalipour MJ
J Pak Med Assoc 2012 Aug;62(8):785-9. PMID: 23862250
Zhu J, Li X, Wang Y, Mu D, Dai L, Zhou G, Li Q, Wang H, Liang J
J Matern Fetal Neonatal Med 2012 Sep;25(9):1730-4. Epub 2012 Mar 12 doi: 10.3109/14767058.2012.663022. PMID: 22339343

Clinical prediction guides

Bayri Y, Soylemez B, Seker A, Yuksel S, Tanrikulu B, Unver O, Canbolat C, Sakar M, Kardag O, Yakicier C, Dagcinar A, Ziyal I, Bayrakli F
Childs Nerv Syst 2015 Aug;31(8):1367-70. Epub 2015 May 26 doi: 10.1007/s00381-015-2753-z. PMID: 26005079
Tinker SC, Hamner HC, Qi YP, Crider KS
Birth Defects Res A Clin Mol Teratol 2015 Jun;103(6):517-26. Epub 2015 Apr 17 doi: 10.1002/bdra.23378. PMID: 25884850Free PMC Article
Meng J, Han L, Zhuang B
J Neurol Sci 2015 Jan 15;348(1-2):188-94. Epub 2014 Dec 6 doi: 10.1016/j.jns.2014.12.001. PMID: 25524527
Elgamal EA, Hassan HH, Elwatidy SM, Altwijri I, Alhabib AF, Jamjoom ZB, Murshid WR, Salih MA
Saudi Med J 2014 Dec;35 Suppl 1:S44-8. PMID: 25551111Free PMC Article
Rothenberg SP, da Costa MP, Sequeira JM, Cracco J, Roberts JL, Weedon J, Quadros EV
N Engl J Med 2004 Jan 8;350(2):134-42. doi: 10.1056/NEJMoa031145. PMID: 14711912

Recent systematic reviews

Yang Y, Chen J, Wang B, Ding C, Liu H
Birth Defects Res A Clin Mol Teratol 2015 Jun;103(6):488-500. Epub 2015 Mar 24 doi: 10.1002/bdra.23361. PMID: 25808073
Meng J, Han L, Zhuang B
J Neurol Sci 2015 Jan 15;348(1-2):188-94. Epub 2014 Dec 6 doi: 10.1016/j.jns.2014.12.001. PMID: 25524527
Zandian A, Haffner M, Johnson J, Rozzelle CJ, Tubbs RS, Loukas M
Childs Nerv Syst 2014 Apr;30(4):571-8. Epub 2013 Dec 28 doi: 10.1007/s00381-013-2344-9. PMID: 24374638
Yang M, Yang L, Qi L, Guo Y, Lin X, Zhang Y, Du Y
Gene 2013 May 10;520(1):7-13. Epub 2013 Feb 21 doi: 10.1016/j.gene.2013.02.005. PMID: 23438943
Wang XW, Luo YL, Wang W, Zhang Y, Chen Q, Cheng YL
Am J Obstet Gynecol 2012 Mar;206(3):251.e1-7. Epub 2011 Dec 27 doi: 10.1016/j.ajog.2011.12.021. PMID: 22265089

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