Spina Bifida

National Organization for Rare Disorders, Inc.

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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.


  • Neural Tube Defect
  • SB

Disorder Subdivisions

  • None

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.


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.


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.

Standard Therapies


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.


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:


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.



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March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue

White Plains, NY 10605

Tel: (914)997-4488

Fax: (914)997-4763

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

230 W. Monroe St.

Suite 1800

Chicago, IL 60606-4802

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


Tel: 32025020413

Fax: 32025021129

Email: info@ifglobal.org

Internet: http://www.ifglobal.org

NIH/National Institute of Neurological Disorders and Stroke

P.O. Box 5801

Bethesda, MD 20824

Tel: (301)496-5751

Fax: (301)402-2186

Tel: (800)352-9424

TDD: (301)468-5981

Internet: http://www.ninds.nih.gov/

Spina Bifida and Hydrocephalus Canada

Suite 647-167 av. Lombard Avenue



R3B 0V3


Tel: 2049253650

Fax: 2049253654

Tel: 8005659488

Email: info@sbhac.ca

Internet: http://www.sbhac.ca


42 Park Road

Peterborough, PE1 2UQ

United Kingdom

Tel: 01733555988

Fax: 08454507755

Email: info@shinecharity.org.uk

Internet: http://www.shinecharity.org.uk/

Birth Defect Research for Children, Inc.

976 Lake Baldwin Lane

Orlando, FL 32814


Tel: (407)895-0802

Email: staff@birthdefects.org

Internet: http://www.birthdefects.org

Pathways Awareness Foundation

2591 Compass Rd

Suite 100

Glenview, IL 60026


Tel: (847)510-5633

Tel: (800)955-2445

Email: friends@pathwaysawareness.org

Internet: http://www.pathwaysawareness.org

Christopher & Dana Reeve Foundation

636 Morris Turnpike, Suite 3A

Short Hills, NJ 07078


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

P.O. Box 510034

Milwaukee, WI 53203


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

Internet: http://rarediseases.info.nih.gov/GARD/

Spina Bifida & Hydrocephalus Association of Ontario

P.O. Box 103, Suite 1006

555 Richmond Street West

Toronto, Ontario, M5V 3B1


Tel: 4162141056

Fax: 4162141446

Tel: 8003871575

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


Queensland, 4102


Tel: (07) 3844 4600

Fax: (07) 3844 4601

Email: info@sbhqueensland.org.au

Internet: http://www.spinabifida.org

Chiari & Syringomyelia Foundation

29 Crest Loop

Melville, NY 11747

Tel: (718)966-2593

Internet: http://www.CSFinfo.org

Fetal Hope Foundation

9786 South Holland Street

Littleton, CO 80127


Tel: (303)932-0553

Tel: (877)789-4673

Email: info@fetalhope.org

Internet: http://www.fetalhope.org

Medical Home Portal

Dept. of Pediatrics

University of Utah

P.O. Box 581289

Salt Lake City, UT 84158

Tel: (801)587-9978

Fax: (801)581-3899

Email: mindy.tueller@utah.edu

Internet: http://www.medicalhomeportal.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.