Spina Bifida – Symptoms and Causes

ByJanis Updated

How Spina Bifida Forms

Spina bifida happens when a baby’s spine and spinal cord don’t develop correctly before birth. This birth defect occurs within the neural tube, which later becomes the brain, spinal cord, and surrounding tissues.

During normal development, the neural tube closes completely by about 28 days after conception. With spina bifida, part of this tube remains open. The severity varies widely, from mild cases with few symptoms to serious cases causing significant disabilities.

The location and size of the spinal opening determine how severe the symptoms will be. When necessary, doctors perform surgery early in life, though this doesn’t always restore full function.

Different Forms of Spina Bifida

Spina bifida appears in three main types, each with different characteristics and severity levels:

Spina Bifida Occulta

  • Most common and mildest form
  • “Occulta” means hidden
  • A small gap exists in one or more vertebrae (spine bones)
  • Many people have this without knowing it
  • Often discovered accidentally during X-rays or other imaging tests
  • Typically causes few or no symptoms

Myelomeningocele

  • Most severe form
  • Also called “open spina bifida”
  • The spinal canal remains open along several vertebrae
  • Spinal cord and protective covering push through this opening
  • Forms a visible sac on the baby’s back
  • Exposed tissues and nerves create infection risks
  • Often causes:
    • Loss of leg movement
    • Bladder control problems
    • Bowel dysfunction

Meningocele

  • Rarest form of spina bifida
  • Spinal fluid collects in a sac that pushes through a spine opening
  • Spinal cord isn’t in the fluid sac
  • No nerves are directly affected
  • May cause minor functional problems
  • Can affect bladder and bowel control
  • Generally has better outcomes than myelomeningocele

Signs and Symptoms

People with spina bifida show different symptoms depending on the type they have. The severity varies from person to person.

In spina bifida occulta, most people have no symptoms because the spinal nerves remain undamaged. However, some babies may show small signs on their skin above the spine gap, such as:

  • A small patch of hair
  • A dimple in the skin
  • A birthmark

These skin marks sometimes signal deeper spinal cord problems that doctors can find using tests like MRI or ultrasound in newborns.

People with meningocele may have problems controlling their bladder and bowels.

Myelomeningocele is the most severe form. In this type:

  • The spinal canal stays open along several vertebrae in the lower or middle back
  • The protective membranes and part of the spinal cord or nerves stick out at birth, creating a sac
  • These tissues and nerves are usually exposed, though sometimes skin covers them
  • Babies often have:
    • Bladder and bowel control problems
    • Weakness in their legs
    • Limited or no movement in their legs
    • Possible fluid buildup in the brain (hydrocephalus) that can damage brain tissue

When to See a Healthcare Provider

Doctors usually diagnose myelomeningocele before birth or right after delivery. Children with this condition need ongoing care from a team of specialists throughout their lives. Parents should learn about possible complications to watch for.

Children with spina bifida occulta rarely show symptoms or have complications. They typically only need regular checkups with their pediatrician.

Causes

Spina bifida occurs due to a mix of factors rather than a single cause. Genetics play a role, as having relatives with neural tube defects increases risk.

Nutrition is also important, particularly low folate (vitamin B-9) levels during pregnancy. Environmental factors likely contribute to the condition as well.

Risk Factors

Certain groups face higher rates of spina bifida, with Hispanic and white populations showing increased frequency. Female babies develop this condition more often than males. While the exact cause remains unknown, researchers have identified several factors that may increase risk:

  • Folate Deficiency
    • Natural vitamin B-9 (folate) is essential for healthy fetal development
    • Low folate levels during pregnancy significantly increase neural tube defect risk
    • Synthetic folic acid from supplements and fortified foods helps prevent deficiency
  • Family history matters when assessing risk. Having one child with a neural tube defect slightly raises the chances for future pregnancies. This risk increases further with two or more affected children.
    • People born with neural tube defects themselves have higher chances of having affected children, though most babies with spina bifida are born to parents with no family history.
  • Medication Concerns exist, particularly with certain anti-seizure drugs like valproic acid. These medications may interfere with the body’s ability to use folate effectively.
  • Health Conditions that increase risk include:
    • Poorly controlled diabetes before pregnancy
    • Obesity at the time of conception
    • Elevated body temperature during early pregnancy (from fever, hot tub use, or saunas)
Risk Factor How It Affects Risk
Folate Deficiency Increases neural tube defect risk
Family History Risk rises with each affected child
Anti-seizure Medicines May interfere with folate metabolism
Uncontrolled Diabetes Higher risk of neural tube defects
Obesity Associated with increased spina bifida risk
High Body Temperature May raise risk in early pregnancy

Possible Complications

Spina bifida can cause various health issues that range from mild to severe. The symptoms depend on the opening’s size and location in the spine, whether skin covers the affected area, and which spinal nerves are involved.

Movement Difficulties

Many children with spina bifida face walking and mobility challenges. The nerves controlling leg muscles may not work properly below the affected spinal area.

This can lead to muscle weakness or paralysis in the legs. A child’s ability to walk depends on which part of the spine is affected and the size of the neural tube opening.

Bone and Joint Problems

Children with more severe forms of spina bifida often develop orthopedic issues due to muscle weakness. These may include:

  • Scoliosis (curved spine)
  • Clubfoot (inward-facing foot)
  • Hip dislocation
  • Various bone and joint conditions
  • Muscle contractures (shortened, tight muscles)

Bladder and Bowel Control Issues

The nerves that control the bladder and bowel often don’t function properly in children with severe spina bifida. This happens because these nerves come from the lowest part of the spinal cord.

As a result, many children struggle with controlling their bowel movements and urination.

Hydrocephalus

Babies born with severe spina bifida commonly develop hydrocephalus, a buildup of fluid in the brain. Doctors typically place a shunt to drain this fluid. However, these shunts can sometimes malfunction or become infected.

Warning signs of shunt problems include:

  • Headaches
  • Vomiting
  • Unusual sleepiness
  • Irritability
  • Redness along the shunt
  • Confusion
  • Changes in eye movement
  • Feeding difficulties
  • Seizures

Chiari Malformation Type 2

This condition is common in children with severe spina bifida. It occurs when the brainstem extends lower than normal into the spinal canal.

This can cause arm weakness and problems with breathing and swallowing. In rare cases, surgery may be needed to relieve pressure on the brain.

Meningitis Risk

Some babies with spina bifida have a higher risk of developing meningitis, an infection in the tissues surrounding the brain. This potentially dangerous condition can cause brain injury if not treated promptly.

Tethered Spinal Cord

This condition happens when spinal nerves attach to tissue (often scar tissue from surgery) and stretch as the child grows.

The spinal cord becomes less able to move freely, which can lead to loss of muscle function in the legs, bowel, or bladder. Surgery can help limit disability.

Sleep Disorders

Both children and adults with spina bifida may develop sleep apnea or other sleep-related breathing problems.

Skin Problems

Children with spina bifida often have decreased sensation in parts of their bodies. This makes them prone to developing wounds on their feet, legs, buttocks, or back.

Simple blisters or sores can develop into deep wounds or infections that are difficult to treat.

Latex Allergy

Children with spina bifida have a higher risk of allergic reactions to natural rubber or latex products. Symptoms can range from mild (rash, itching, runny nose) to severe (anaphylaxis, which causes dangerous swelling of the face and airways).

Using latex-free products is recommended during childbirth and when caring for these children.

Additional Complications

As children with spina bifida grow older, they may face other challenges including:

  • Frequent urinary tract infections
  • Digestive system problems
  • Depression
  • Learning disabilities
  • Difficulty with attention, reading, and math

With proper medical care and support, many of these complications can be managed effectively, allowing children with spina bifida to lead fulfilling lives.

Ways to Prevent Neural Tube Defects

Getting Folic Acid Early

Taking folic acid supplements greatly reduces the risk of having a baby with spina bifida. All people who might become pregnant should take 400 micrograms (mcg) of folic acid daily.

This is important because neural tube defects can form in the early weeks of pregnancy, often before someone knows they’re pregnant.

You can get folic acid from food, too. Many foods are enriched with folic acid, including:

  • Bread
  • Pasta
  • Rice
  • Breakfast cereals

On food labels, you might see the word “folate” instead of folic acid. Folate is the natural form found in foods.

Preparing for Pregnancy

Adults planning pregnancy should get 400 to 800 mcg of folic acid daily. Your body absorbs the supplement form better than natural folate from foods.

Most people don’t get enough folate from diet alone, so supplements are necessary.

Why it matters: Folic acid may also help prevent other birth conditions like cleft lip, cleft palate, and certain heart problems.

For good health, eat foods naturally rich in folate such as:

  • Beans and peas
  • Citrus fruits and juices
  • Egg yolks
  • Milk
  • Avocados
  • Dark green vegetables (broccoli, spinach)

When You Need Higher Amounts

Some people need extra folic acid before pregnancy:

Who Needs More Why
People who have spina bifida Higher risk of having a child with the condition
People who previously had a baby with spina bifida Higher risk in future pregnancies
People taking anti-seizure medications These medications can affect folic acid levels
People with diabetes May need additional supplementation

If you fall into any of these groups, talk with your healthcare provider before taking additional supplements. They can recommend the right amount for your specific situation.


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Health Writer

Janis's areas of expertise include nutrition, exercise, stress management, and mental health. She is passionate about educating and empowering people to take control of their health and make positive changes that can last a lifetime. Janis believes that small, sustainable changes are the key to long-term success, and she works with her clients to develop personalized plans that fit their individual needs and lifestyles.