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Spina Bifida

The neural tube is a structure in a growing embryo that develops to become a person’s brain and spinal cord. Sometimes, this structure does not close completely in a developing fetus. This is the most common congenital central nervous system anomaly. The most common type of such neural tube defects is spina bifida.

What is spina bifida?

Spina bifida is a congenital defect of the spine in which the back side of the vertebral column of the spine does not fully develop. The result is a gap in the vertebral column – the protective bony structure that surrounds spinal cord. Depending on severity, a portion of the spinal cord may be exposed, which can cause physical and neurological problems.

What is spina bifida occulta?

Spina bifida occulta is the mildest form of spina bifida. There is a small gap in the vertebral column that usually causes no symptoms in the spinal cord or nerves. (Occulta means “hidden,” and anomalies of this type are frequently discovered only during an X-ray examination and have little to no clinical significance.)

An X-ray showing a spina bifida defect.

An X-ray showing a spina bifida defect.

Anteroposterior (front-to-back) lumbosacral spine X-rays show two different examples of spina bifida occulta. Yellow arrows indicate the defect where correct bone fusion did not occur.

What is the difference between meningocele and myelomeningocele?

Children born with more severe forms of spina bifida may have a complete absence of the posterior structures around the spinal cord. The lack of bony, structural support from the posterior spine allows a sac of cerebral spinal fluid (which encases the lowest nerves from the spinal cord) to push through the defect. If the sac just contains cerebral spinal fluid, it is called a meningocele, but if the sac contains cerebral spinal fluid as well as nerves, it is called a myelomeningocele.

Illustration of the lower spine showing normal structure verses that of a posterior spina bifida defect.

Lateral-views of the lumbosacral (lower) spine, in a person facing to the viewer’s left. The illustration at left shows normal spine growth, while that on the right demonstrates a posterior defect associated with spina bifida.

How is spina bifida diagnosed?

Spina bifida may be screened prenatally with a blood test that checks for alpha-fetoprotein levels. It is often diagnosed in utero by ultrasound. Sometimes, more severe forms are diagnosed at birth by physical examination of the spine. Spina bifida occulta may be incidentally discovered on spine radiographs (X-rays) later in life.

What causes spina bifida?

Genetics and environmental factors may contribute to spina bifida. Folic acid deficiency in early pregnancy is a known risk factor for spina bifida.

Is spina bifida genetic?

The causes of spina bifida are multifactorial. This means genetics, nutrition, and environmental factors all may play a role in causing a failure of formation of the posterior spine. It runs in families that transmit genes that cause neural tube defects early in gestation.

What are the symptoms of spina bifida?

Depending on the level and extent of the spinal defect, patients may have no symptoms or may experience a loss of sensation, paralysis of the legs, and/ or even absence of bowel and bladder function.

What is the treatment for spina bifida?

Severe meningocele and myelomeningocele forms of spina bifida may require emergency neurosurgery immediately after birth. Subsequent scoliosis and kyphosis may occur over time and require an orthopedic surgeon to perform reconstructive instrumentation and fusion. This procedure corrects and stabilizes the spine to prevent further deformity.

Can spina bifida be corrected in the womb?

Fetal surgery to repair spina bifida usually takes place prior to the third trimester with promising outcomes. This surgery is not performed at Hospital for Special Surgery.

What is the surgery for spina bifida?

Depending upon the child’s age and extent of deformity, surgical repair consists of closing the defect in the back and stabilizing the spine with instrumentation.

What type of doctor treats spina bifida?

A multidisciplinary team is essential to take care of a child with severe spina bifida. The team consists of representatives from neurosurgery, neurology, urology, physical therapy, and the orthotics department.

Surgical repair procedures are performed by a team that consists of a neurosurgeon, a urologist, and an orthopedist..

Can you develop spina bifida later in life?

No, but spina bifida occulta is usually diagnosed, if ever, incidentally on a spinal X-ray a person gets for some other reason in childhood or adulthood.

What is the life expectancy of someone with spina bifida?

The severity of the deformity and adequacy of the surgical repair influence the life expectancy of individuals with spina bifida.

Reviewed and edited by John S. Blanco, MD; Jessica H. Heyer, MD;
Shevaun Mackie Doyle, MD; and Roger F. Widmann, MD

References

  • Robin M Bowman. Myelomeningocele (spina bifida): Management and outcome. In: UpToDate, Connor RF (Ed), Wolters Kluwer. Accessed Jan 20, 2024.
  • Widmann RF, Hresko MT, Hall JE. Lumbosacral fusion in children and adolescents using the modified sacral bar technique. Clin Orthop Relat Res. 1999 Jul;(364):85-91. doi: 10.1097/00003086-199907000-00012. PMID: 10416396.

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