National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Spina bifida


Other Names:
Spinal dysraphism; Cleft spine; Open spine; Spinal dysraphism; Cleft spine; Open spine; Rachischisis; Isolated spina bifida See More
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Subtypes:
This disease is grouped under:
Spina bifida is a type of neural tube defect in which the neural tube (the structure in an embryo that becomes the brain and spinal cord) does not completely close during development in the womb. This may result in part of the spinal cord sticking out through an opening in the spine, leading to permanent nerve damage. Babies born with spina bifida often have a fluid-filled sac, covered by skin, on their back. This is 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 spina bifida can range from mild to severe, depending on the location and extent of spinal cord involvement. Possible symptoms include include a loss of feeling below the level of the opening, weakness or paralysis of the feet or legs, problems with bladder and bowel control, hydrocephalus, and learning problems.[1]

The cause in most cases is multifactorial, which means that both genetic and environmental factors interact to cause spina bifida. Some cases may be due to the inheritance of specific gene mutations, chromosome abnormalities, or fetal exposure to teratogens.[2] Maternal folate deficiency increases the risk to have a baby with spina bifida, and women who take folic acid supplements before and during early pregnancy are much less likely to have a baby with spina bifida.[1]

Treatment typically involves antibiotics, sac closure, and ventriculoperitoneal shunting, usually shortly after birth. Long-term physical, occupational, and/or speech therapy may be needed. In some cases, the condition is life-threatening and is not treatable.[2]

There is also a milder form of the condition called spina bifida occulta in which the nerves develop normally and health problems rarely occur.[1]

Last updated: 8/8/2017

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Myelomeningocele 0002475
30%-79% of people have these symptoms
Arnold-Chiari malformation 0002308
Erectile dysfunction
Abnormal erection
Erectile abnormalities
[ more ] 		0100639
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Muscular hypotonia
Low or weak muscle tone
0001252
Sensory neuropathy
Damage to nerves that sense feeling
0000763
Short stature
Decreased body height
Small stature
[ more ] 		0004322
5%-29% of people have these symptoms
Abnormal vertebral segmentation and fusion 0005640
Abnormality of cardiovascular system morphology 0030680
Abnormality of the hip bone
Abnormality of the hips
0003272
Abnormality of the ribs
Rib abnormalities
0000772
Anencephaly 0002323
Encephalocele 0002084
Facial cleft
Cleft of the face
0002006
Scoliosis 0002650
Seizure 0001250
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
Syringomyelia
Fluid-filled cyst in spinal cord
0003396
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] 		0001762
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Last updated: 7/1/2020
Spina bifida is a complex condition that in most cases, is likely caused by the interaction of multiple genetic and environmental factors (called multifactorial inheritance). Some of these factors have been identified, but many remain unknown.

Changes in any of many genes may influence the risk of spina bifida. The best-studied of these genes is MTHFR, which provides instructions for making the B-vitamin folate (also called folic acid, or vitamin B9).[1] Maternal folate deficiency increases the risk to have a baby with spina bifida, and women who take folic acid supplements before and during early pregnancy are much less likely to have a baby with spina bifida.[1]

Some cases of spina bifida may be associated with chromosome abnormalities, or fetal exposure to teratogens.[2] Other possible risk factors for spina bifida include diabetes mellitus, obesity, exposure to high heat (such as a fever or use of a hot tub or sauna) in early pregnancy, and the use of certain anti-seizure medications during pregnancy. However, it is unclear how these factors may influence the risk of spina bifida.[1]
Last updated: 8/8/2017
Treatment for spina bifida usually involves a team of specialists and varies depending on the severity. Mild cases may not require treatment. However, the majority of children with spina bifida are treated shortly after birth to decrease the risk of infection. Standard treatment includes antibiotics, surgery to close the opening in the spine, and placement of a ventriculoperitoneal shunt to manage hydrocephalus. While surgery may prevent worsening of symptoms, it cannot restore lost function. In some cases diagnosed during pregnancy, in-utero fetal surgery may be an option.[2][3][4] In some cases, the condition is life-threatening and is not treatable.[2]

Depending on the extent of spinal cord involvement, treatment may also include management of motility (movement), development, bladder, and bowel concerns. Weakness or paralysis of the feet and legs might be addressed with occupational and physical therapy, corrective shoes, braces, crutches, or other devices.[2][3][5] Long-term physical, occupational, and/or speech therapy may be needed.[2]

Last updated: 8/8/2017

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Spina bifida. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • In 1994, doctors began trying out various methods for closing spina bifida defects while the baby is still in the mother's womb. Since that time, many improvements have been made in the procedure. It is still not know, however, whether it is better to operate on a baby with spina bifida before or after it is born. A research study called Management of Myelomeningocele Study (MOMS) is designed to answer that question. The National Institute of Child Health and Human Development (NICHD), a part of The National Institutes of Health (NIH), has funded this study to compare how babies who have prenatal surgery do compared to those who have postnatal surgery. MOMS is a research study designed to compare two approaches to the treatment of babies with spina bifida: surgery before birth (prenatal or fetal surgery) and surgery after birth (postnatal surgery). To learn more about this research study, visit the MOMS website. 

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Community Resources

  • The Job Accommodation Network (JAN) has information on workplace accommodations and disability employment issues related to this condition. JAN is a service of the Office of Disability Employment Policy in the U.S. Department of Labor.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • You can obtain information on this topic from the Centers for Disease Control and Prevention (CDC). The CDC is recognized as the lead federal agency for developing and applying disease prevention and control, environmental health, and health promotion and education activities designed to improve the health of the people of the United States.
  • Genetics Home Reference (GHR) contains information on Spina bifida. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Merck Manual for health care professionals provides information on Spina bifida.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Spina bifida. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • I have a son who has spina bifida, and needs treatment for bladder and colon concerns because he urinates and defecates without feeling or sense to it. He also needs re-training and rehabilitation of the physically (exercises to strengthen the muscles and nerves so that he can walk). What is the treatment for his concerns? See answer


  1. Spina bifida. Genetics Home Reference. November, 2014; http://ghr.nlm.nih.gov/condition/spina-bifida.
  2. Foster MR. Spina Bifida. Medscape Reference. September 22, 2016; http://emedicine.medscape.com/article/311113-overview.
  3. Spina Bifida. NORD. 2007; http://rarediseases.org/rare-diseases/spina-bifida/.
  4. Expectant Parent. Spina Bifida Association. 2015; http://spinabifidaassociation.org/expectantparent/.
  5. Urologic Care and Management. Spina Bifida Association. 2015; http://spinabifidaassociation.org/wp-content/uploads/2015/07/UROLOGIC-CARE-AND-MANAGEMENT2.pdf.