Important
It is possible that the main title of the report Spina Bifida is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
Disorder Subdivisions
- Spina Bifida Cystica
- Spina Bifida Occulta
Related Disorders List
Information on the following diseases can be found in the Related Disorders section of this report:
- Caudal regression syndrome
- Clubfoot
- Hydrocephalus
General Discussion
Spina bifida is characterized by incomplete closure of certain bones of the spinal column (vertebrae), leaving a portion of the spinal cord exposed. Part of the contents of the spinal canal may protrude through this opening. In the most severe form, rachischisis, the opening is extensive. Spina bifida may cause difficulties with bladder control, walking and/or other functions, depending on the severity of associated symptoms.
Symptoms
Patients with spina bifida have a wide variety of symptoms and physical findings, depending on the extent of the defect in the spine. The mildest form of the condition, spina bifida occulta, causes few if any symptoms, and may go undetected. In this mild form, the lack of closure of the neural tube affects only a small area of the spine and is found on X-rays. The disorder may be suspected because of a dimple or tuft of hair on the back overlying the affected area. Impaired bladder control is a common finding, even with relatively mild forms of the condition.
In more severe forms of spina bifida, a sac (meningocele or myelomeningocele) may push its way out through the opening. A meningocele involves the meninges, the tough membrane that covers and protects the brain and cord. This sac may be small or it may be as large as a grapefruit. The meningocele may be covered with skin, or the nerve tissue may be exposed. Generally the sac contains cerebrospinal fluid (CSF). A myelomeningocele represents the most severe form of spina bifida and indicates that a portion of the spinal cord itself has pushed through the spinal (vertebral) opening into the sac in the back of the torso.
The malformation of the lower spinal cord causes abnormalities of the lower trunk and extremities of varying severity. If the condition is mild, the person may only experience some muscle weakness and impaired skin sensations. In patients with meningocele, accumulation of cerebrospinal fluid in the brain results in enlargement of the head (hydrocephalus) and possible brain damage.
Although spina bifida is usually present at birth, it occasionally is first seen during adolescence. The rapid growth during this time stretches the shortened nerves and may cause progressive weakness. Prenatal testing for spina bifida is available. However, this test is not absolutely reliable.
Causes
The exact cause of spina bifida is not known. A combination of hereditary and environmental factors may be involved. Studies have also indicated that a lack of folic acid in the mother's diet during pregnancy heightens the risk of spina bifida and other neural tube defects.
In most cases, babies with spina bifida and other neural tube defects are born into families with no history of these disorders. However, if a child in a family has spina bifida, the likelihood of the parents having another child with this disorder in the future is increased.
Affected Populations
Spina bifida is the most common neural tube defect in the United States. Between 1,500 and 2,000 babies out of about 4 million births are born with this disorder each year in the United States.
Related Disorders
Spina bifida is usually an isolated birth defect but it can also occur as part of a syndrome with other birth defects. It is one of a group of disorders known as neural tube defects.
Standard Therapies
Prevention
The U.S. Public Health Service (PHS) advises women of childbearing age to take 0.4 mg of folic acid daily, either through diet or low dose supplements. Women are urged not to take more than 1.0 mg of folic acid daily unless advised by a physician because high doses of folic acid can mask other vitamin deficiencies.
Treatment
The mildest cases of spina bifida may not require treatment. The moderate cases require a decision as to whether or not surgery is advisable. Surgery may prevent the worsening of the condition in some instances, but cannot restore the lost function. In those extreme cases where the sac (meningocele) breaks or appears about to break, immediate surgery becomes essential.
The family doctor or the orthopedist may prescribe corrective shoes, braces, crutches, or other devices. These help the affected individual to make the most effective use of the weakened muscles, and to prevent the arms and legs from being maintained in an improper or awkward position. Range of motion exercises may also be helpful.
Investigational Therapies
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government website.
For information about clinical trials being conducted at the National Institutes of Health (NIH) in Bethesda, MD, contact the NIH Patient Recruitment Office:
Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov
For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com
Currently (2006), there are two clinical studies dealing with this condition listed on www.clinicaltrials.gov. One explores the condition's genetics and the other examines coping skills of children with chronic health problems. Spina bifida is included in this study.
References
McKusick VA, Ed. ONLINE MENDELIAN INHERITANCE IN MAN (OMIM). The Johns Hopkins University. Neural Tube Defects. Entry Number;182940: Last Edit Date; 8/18/2006.
McKusick VA, Ed. ONLINE MENDELIAN INHERITANCE IN MAN (OMIM). The Johns Hopkins University. Neural Tube Defects. X-Linked. Entry Number; 301410: Last Edit Date; 7/31/2006.
McKusick VA, Ed. ONLINE MENDELIAN INHERITANCE IN MAN (OMIM). The Johns Hopkins University. Neural Tube Defects. Folate-Sensitive. Entry Number; 601634: Last Edit Date; 8/30/2006.
TEXTBOOKS
Beers MH, Berkow R., eds. The Merck Manual, 17th ed. Whitehouse Station, NJ: Merck Research Laboratories; 1999:2224-25.
Berkow R., ed. The Merck Manual-Home Edition.2nd ed. Whitehouse Station, NJ: Merck Research Laboratories; 2003:1511, 1526.
Wyszynski DF. Neural Tube Defects. 1st ed. Oxford University Press, New York, NY; 2006:various.
Rowland LP. Ed. Merritt's Neurology. 10th ed. Lippincott Williams & Wilkins. Philadelphia, PA. 2000:492-93, 497-98.
REVIEW ARTICLES
Padmanabhan R. Etiology, pathogenesis and prevention of neural tube defects. Congenit Anom. (Kyoto). 2006;46:55-67.
Xiao CG. Reinnervation for neurogenic bladder: historic review and introduction of a somatic-autonomic reflex pathway procedure for patients with spinal cord injury or spina bifida. Eur Urol. 2006;49:22-28.
Bruner JP, Tulipan N. Intrauterine repair of spina bifida. Clin Obstet Gynecol. 2005;48:942-55.
Vernaes IP, Janssens JM, Bosman AM, Gerris JR. Parents' psychological adjustments in families of children with spina bifida: a meta analysis. BMC Pediatr. 2005;5:32.
Mwenon P, Rao KL. Current status of fetal surgery. Indian J Pediatr. 2005;72:433-36.
Mitchell LE. Epidemiology of neural tube defects. Am J Med Genet C Semin Med Genet. 2005;135:69-76.
Dias MS. Neurosurgical management of myelomeningocele (spina bifida). Pediatr Rev. 2005;26:50-60.
Mitchell LE, Adzick NS, Melchionne J, Pasquariello PS, Sutton LN, Whitehead AS. Spina bifida. Lancet. 2004;364:1885-95
FROM THE INTERNET
NINDS Spina Bifida Information Page. National Institutes of Health. Last updated January 25, 2006. 7pp.
www.ninds.nih.gov/disorders/spina_bifida/spina_bifids.htm
Myelomeningocele (children). Medical Encyclopedia. MedlinePlus. Last Updated: 11/10/2004. 4pp.
www.nlm.nih.gov/medlineplus/ency/article/001558.htm
Resources
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com
Spina Bifida Association of America
4590 MacArthur Boulevard NW
Suite 250
Washington, DC 20007-4226
Tel: (202)944-3285
Fax: (202)944-3295
Tel: (800)621-3141
Email: sbaa@sbaa.org
Internet: http://www.sbaa.org
Easter Seals National Headquarters
233 South Wacker Drive, Suite 2400
Chicago, IL 60606
Tel: (312)726-6200
Fax: (312)726-1494
Tel: (800)221-6827
TDD: (312)726-4258
Email: info@easterseals.com
Internet: http://www.easterseals.com
International Federation for Spina Bifida and Hydrocephalus
Cellebroersstraat 16
Brussels, B1000
Belgium
Tel: +32 (0)2 502 0413
Fax: +32 (0)2 502 1129
Email: info@ifglobal.org
Internet: http://www.ifglobal.org
National Institute of Neurological Disorders and Stroke (NINDS)
P.O. Box 5801
Bethesda, MD 20824
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
TDD: (301)468-5981
Email: me20t@nih.gov
Internet: http://www.ninds.nih.gov/
Spina Bifida and Hydrocephalus Association of Canada
Suite 428-167
av. Lombard Avenue
Winnipeg,, R3B 0V3
Canada
Tel: 204-925-3650
Fax: 204-925-3654
Tel: 800-565-9488
Email: spinab@mts.net
Internet: http://www.sbhac.ca
Association for Spina Bifida and Hydrocephalus
ASBAH House
42 Park Road
Peterborough, PE1 2UQ
United Kingdom
Email: postmaster@asbah.org
Internet: http://www.asbah.org
Birth Defect Research for Children, Inc.
800 Celebration Ave, Suite 225
Orlando, FL 34747
USA
Tel: (407)566-8304
Fax: (407)895-0824
Email: staff@birthdefects.org
Internet: http://www.birthdefects.org
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/
Pathways Awareness Foundation
150 North Michigan Ave.,Ste.2100
Chicago, IL 60601
USA
Tel: (312)893-6620
Fax: (312)893-6621
Tel: (800)326-8154
TDD: (800)326-8154
Email: friends@pathwaysawareness.org
Internet: http://www.pathwaysawareness.org
Sjældne Diagnoser / Rare Disorders Denmark
Frederiksholms Kanal 2, 3rd Floor
Copenhagen K, 1220
Denmark
Tel: 45 33 14 00 10
Fax: 45 33 14 55 09
Email: mail@sjaeldnediagnoser
Internet: http://www.raredisorders.dk
Christopher Reeve Paralysis Foundation
636 Morris Turnpike, Suite 3A
Short Hills, NJ 07078
USA
Tel: (973)379-2690
Fax: (973)912-9433
Tel: (800)225-0292
Email: prc@ChristopherReeve.org
Internet: http://www.christopherreeve.org
New Horizons Un-Limited, Inc.
811 East Wisconsin Ave
Suite 937
Milwaukee, WI 53202
USA
Tel: (414)299-0124
Fax: (414)347-1977
Email: horizons@new-horizons.org
Internet: http://www.new-horizons.org
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx
Spina Bifida and Hydrocephalus Association of Ontario
55 Richmond St W
PO Box 103
Ste 1006
Toronto, Ontario, M5V 3B1
Canada
Tel: 416-214-1056
Fax: 416-2141446
Email: provinivial@sbhao.on.ca
Internet: http://www.sbhao.on.ca
Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org
Spina Bifida Hydrocephalus Queensland
PO Box 8022
Woolloongabba, Queensland, 4120
Australia
Tel: (07) 3844 4600
Fax: (07) 3844 4601
Email: info@sbhqueensland.org.au
Internet: http://www.spinabifida.org
American Association of Neurological Surgeons
5550 Meadowbrook Drive
Rolling Meadows, IL 60008-3852
Tel: (847)378-0500
Fax: (847)378-0600
Tel: (888)566-2267
Email: info@aans.org
Internet: http://www.NeurosurgeryToday.org and http://www.aans.org
Chiari & Syringomyelia Foundation (CSF)
29 Crest Loop
Staten Island, NY 10312
Tel: 718-966-2593
Fax: 718-966-2593
Email: dpoppe@CSFinfo.org
Internet: http://www.CSFinfo.org
Fetal Hope Foundation
9786 S Holland Street
Littleton, CO 80127
USA
Tel: (303)932-0553
Tel: (877)789-4673
Email: info@fetalhope.org
Internet: http://www.fetalhope.org
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org
Last Updated: 9/23/2007
Copyright 1984, 1985, 1986, 1987, 1988, 1989, 1990, 1991, 1992, 1993, 1999, 2006, 2007 National Organization for Rare Disorders, Inc.