Spina bifida
Last updated 16 Dec 2024
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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.
Description
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 contained in the sac. 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 spinal cord does 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.
Inheritance patterns
The source lists the following possible inheritance patterns: Pattern unknown. More than one pattern can apply in different cases.
Related genes
Other names
Cleft spine
Open spine
Rachischisis
Spinal dysraphism
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Spina bifida
Spina bifida is caused by an abnormal development of the spine and spinal cord which leaves a gap in the spine. Spina bifida can vary from causing no problems to causing severe physical disability. Spina bifida is usually diagnosed at the time of the routine pregnancy ultrasound scan. The best... What is spina bifida. Spina bifida is an abnormal.
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By enrolling with the UK Epilepsy and Pregnancy Register if you are pregnant and have epilepsy, you will help... These medicines are linked with a small increased risk of having a baby with a neural tube defect (such as spina bifida) , facial defects such as cleft lip and/or palate , congenital heart defects, arm or leg abnormalities, and a defect.
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Further reading and references
- Spina bifida; MedlinePlus, National Library of Medicine.
- Au KS, Ashley-Koch A, Northrup H. Epidemiologic and genetic aspects of spina bifida and other neural tube defects. Dev Disabil Res Rev. 2010;16(1):6-15. doi: 10.1002/ddrr.93.
- Bassuk AG, Kibar Z. Genetic basis of neural tube defects. Semin Pediatr Neurol. 2009 Sep;16(3):101-10. doi: 10.1016/j.spen.2009.06.001.
- Botto LD, Moore CA, Khoury MJ, Erickson JD. Neural-tube defects. N Engl J Med. 1999 Nov 11;341(20):1509-19. doi: 10.1056/NEJM199911113412006. No abstract available.
- Copp AJ, Greene ND. Genetics and development of neural tube defects. J Pathol. 2010 Jan;220(2):217-30. doi: 10.1002/path.2643.
- Doudney K, Grinham J, Whittaker J, Lynch SA, Thompson D, Moore GE, Copp AJ, Greene ND, Stanier P. Evaluation of folate metabolism gene polymorphisms as risk factors for open and closed neural tube defects. Am J Med Genet A. 2009 Jul;149A(7):1585-9. doi: 10.1002/ajmg.a.32937. No abstract available.
- Folic acid for the prevention of neural tube defects. American Academy of Pediatrics. Committee on Genetics. Pediatrics. 1999 Aug;104(2 Pt 1):325-7. doi: 10.1542/peds.104.2.325.
- Greene ND, Stanier P, Copp AJ. Genetics of human neural tube defects. Hum Mol Genet. 2009 Oct 15;18(R2):R113-29. doi: 10.1093/hmg/ddp347.
- Hickey SE, Curry CJ, Toriello HV. ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing. Genet Med. 2013 Feb;15(2):153-6. doi: 10.1038/gim.2012.165. Epub 2013 Jan 3.
- Levin BL, Varga E. MTHFR: Addressing Genetic Counseling Dilemmas Using Evidence-Based Literature. J Genet Couns. 2016 Oct;25(5):901-11. doi: 10.1007/s10897-016-9956-7. Epub 2016 Apr 30.
- Martinez CA, Northrup H, Lin JI, Morrison AC, Fletcher JM, Tyerman GH, Au KS. Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida. Am J Obstet Gynecol. 2009 Oct;201(4):394.e1-11. doi: 10.1016/j.ajog.2009.06.042. Epub 2009 Aug 15.
- Mitchell LE, Adzick NS, Melchionne J, Pasquariello PS, Sutton LN, Whitehead AS. Spina bifida. Lancet. 2004 Nov 20-26;364(9448):1885-95. doi: 10.1016/S0140-6736(04)17445-X.
- Ross ME, Mason CE, Finnell RH. Genomic approaches to the assessment of human spina bifida risk. Birth Defects Res. 2017 Jan 30;109(2):120-128. doi: 10.1002/bdra.23592.
- Yan L, Zhao L, Long Y, Zou P, Ji G, Gu A, Zhao P. Association of the maternal MTHFR C677T polymorphism with susceptibility to neural tube defects in offsprings: evidence from 25 case-control studies. PLoS One. 2012;7(10):e41689. doi: 10.1371/journal.pone.0041689. Epub 2012 Oct 3.
- Zhang T, Lou J, Zhong R, Wu J, Zou L, Sun Y, Lu X, Liu L, Miao X, Xiong G. Genetic variants in the folate pathway and the risk of neural tube defects: a meta-analysis of the published literature. PLoS One. 2013 Apr 4;8(4):e59570. doi: 10.1371/journal.pone.0059570. Print 2013.
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