Rare Hematology News

Disease Profile

Spina bifida

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-5 / 10 000

33,100 - 165,500

US Estimated

1-5 / 10 000

51,350 - 256,750

Europe Estimated

Age of onset

Infancy

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ICD-10

Q05.0 Q05.1 Q05.2 Q05.3 Q05.4 Q05.5 Q05.6 Q05.7 Q05.8 Q05.9

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Spinal dysraphism; Cleft spine; Open spine;

Categories

Congenital and Genetic Diseases

Summary

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]

Symptoms

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.

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

Cause

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 antiseizure medications during pregnancy. However, it is unclear how these factors may influence the risk of spina bifida.[1]

Treatment

Treatment for spina bifida typically involves surgery to repair the opening in the spine. Surgery can be done before or shortly after birth. Surgery before birth (fetal surgery) is an option depending on the severity of the spina bifida and the health of the mother. While surgery may prevent symptoms from getting worse, it cannot correct any damage to the spinal cord of nerves that is already present. Mild cases of spina bifida may not require treatment. 

Other treatment options are focused on managing the long-term symptoms and may include a ventriculoperitoneal shunt to drain fluid from the head, antibiotics as protection from infection, and physical therapy.[3][4]

Specialists involved in the care of someone with spina bifida may include:

  • Neurologist
  • Neurosurgeon
  • Fetal surgeon
  • Urologist
  • Orthopedist
  • Dermatologist
  • Physical therapist

Organizations

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

    Learn more

    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.
    • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
    • Genetics Home Reference (GHR) contains information on Spina bifida. This website is maintained by the National Library of Medicine.
    • 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.

        References

        1. Spina bifida. Genetics Home Reference. November, 2014; https://ghr.nlm.nih.gov/condition/spina-bifida.
        2. Foster MR. Spina Bifida. Medscape Reference. September 22, 2016; https://emedicine.medscape.com/article/311113-overview.
        3. Phillips LA, Burton JM, Evans SH. Spina Bifida Management. Curr Probl Pediatr Adolesc Health Care. Jul 2017; 47(7):173-177. https://pubmed.ncbi.nlm.nih.gov/28734746/.
        4. ACOG Committee Opinion No. 720. Maternal-Fetal Surgery for Myelomeningocele. Obstet Gynecol. Sep 2017; 130(3):e164-e167. https://pubmed.ncbi.nlm.nih.gov/28832491/.
        5. Spina Bifida. NORD. 2007; https://rarediseases.org/rare-diseases/spina-bifida/.

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