National Organization for Rare Disorders, Inc.
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.
Related Disorders List
Information on the following diseases can be found in the Related Disorders section of this report:
- Caudal Regression Syndrome
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.
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.
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.
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.
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
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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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.
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FROM THE INTERNET
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 IN MAN (OMIM). The Johns Hopkins University. Neural Tube Defects. Folate-Sensitive. Entry Number; 601634: Last Edit Date; 8/30/2006.
NINDS Spina Bifida Information Page. National Institutes of Health. Last updated January 25, 2006. 7pp.
Myelomeningocele (children). Medical Encyclopedia. MedlinePlus. Last Updated: 11/10/2004. 4pp.
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Spina Bifida Association of America
4590 MacArthur Boulevard NW
Washington, DC 20007-4226
230 W. Monroe St.
Chicago, IL 60606-4802
International Federation for Spina Bifida and Hydrocephalus
NIH/National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
Spina Bifida and Hydrocephalus Canada
Suite 647-167 av. Lombard Avenue
42 Park Road
Peterborough, PE1 2UQ
Birth Defect Research for Children, Inc.
976 Lake Baldwin Lane
Orlando, FL 32814
Pathways Awareness Foundation
2591 Compass Rd
Glenview, IL 60026
Christopher & Dana Reeve Foundation
636 Morris Turnpike, Suite 3A
Short Hills, NJ 07078
New Horizons Un-Limited, Inc.
811 East Wisconsin Ave
P.O. Box 510034
Milwaukee, WI 53203
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Spina Bifida & Hydrocephalus Association of Ontario
P.O. Box 103, Suite 1006
555 Richmond Street West
Toronto, Ontario, M5V 3B1
PO Box 241956
Los Angeles, CA 90024
Spina Bifida Hydrocephalus Queensland
PO Box 8022
Tel: (07) 3844 4600
Fax: (07) 3844 4601
Chiari & Syringomyelia Foundation
29 Crest Loop
Melville, NY 11747
Fetal Hope Foundation
9786 South Holland Street
Littleton, CO 80127
Medical Home Portal
Dept. of Pediatrics
University of Utah
P.O. Box 581289
Salt Lake City, UT 84158
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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.
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Last Updated: 9/23/2007
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