GTR Home > Conditions/Phenotypes > Spina bifida

Summary

Spina bifida is a condition in which the bones of the spinal column do not close completely around the developing nerves of the spinal cord. As a result, part of the spinal cord may stick out through an opening in the spine, leading to permanent nerve damage. Spina bifida results when a structure called the neural tube fails to close completely during the first few weeks of embryonic development. The neural tube is a layer of cells that ultimately develops into the brain and spinal cord. Because spina bifida is caused by abnormalities of the neural tube, it is classified as a neural tube defect (NTD). Children born with spina bifida often have a fluid-filled sac on their back covered by skin. If the sac contains part of the spinal cord and its protective covering, the abnormality is known as a myelomeningocele. If it does not, the abnormality is ... known as a meningocele. The signs and symptoms of these abnormalities range from mild to severe, depending on where the opening in the spinal column is located and how much of the spinal cord is affected. Related problems can include a loss of feeling below the level of the opening, weakness or paralysis of the feet or legs, and problems with bladder and bowel control. Some affected individuals have additional complications, including a buildup of excess fluid around the brain (hydrocephalus) and learning problems. With surgery and other forms of treatment, many people with spina bifida live into adulthood. There is also a milder form of the condition called spina bifida occulta, in which the spinal column is abnormal but the nerves of the spinal cord do not stick out through an opening in the spine. Spina bifida occulta usually causes no health problems, although rarely it can cause back pain or changes in bladder function. [from GHR] more

Clinical features

Help
  • Hydrocephalus
  • Anencephaly
  • Urinary incontinence
  • Multiple lipomas
  • Myelomeningocele
  • Spina bifida occulta
  • Asymmetry of spinal facet joints
Show all (7)

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Write to the Help Desk