Signs of Spina Bifida: 8 Easy-to-Spot Symptoms of Cracked Vertebrae in Children

Spina bifida is a congenital spinal defect that can affect a child's mobility, sensation, and development if not detected early. According to statistics, this condition occurs in approximately 1 in 2,858 newborns in the United States, making it one of the most common neural tube defects. Although the exact cause remains unknown, experts believe that genetic factors combined with environmental and nutritional factors during pregnancy can contribute to an increased risk of the disease.

If you are looking for signs of spina bifida, symptoms of spina bifida, or how to identify the condition in infants and young children, this article will help you recognize important signs to watch for, understand the extent of the disease's impact, and know when to take your child to a medical facility for examination. According to Tiptory, early detection of spina bifida can facilitate more effective treatment and rehabilitation, while also reducing the risk of long-term complications.

Part 1: How to recognize spina bifida at all ages

Sign 1: Does spina bifida have birthmarks?

Observe the skin along the spine

• Examine the back area, especially along the midline of the spine, for any abnormalities such as changes in skin color, dark patches, light patches, or congenital birthmarks.
• In some cases of spina bifida, changes in the skin can indicate that the neural tube did not close completely during fetal development.
• In addition to changes in skin color, you should also note whether there are any bumps, abnormal dimples, or slight deformities in the spinal region. These are all signs that need to be evaluated by a doctor.

Not all birthmarks are related to spina bifida

• Most congenital birthmarks on the body are benign and not related to spina bifida defects or neurological conditions.
• However, if the birthmark or discolored area is located directly on the midline of the spine and is accompanied by other abnormal signs such as lumps, deep skin dimples, or asymmetry of the back, you should not be complacent.

Seek medical attention if abnormalities are suspected

• If you notice any signs that concern you, take your child to a medical facility for examination by a specialist.
• The doctor can assess signs of spina bifida through clinical examination and order additional imaging tests if necessary.
• Early detection of spina bifida in infants helps determine the extent of the damage, allows for close monitoring, and enables the selection of appropriate treatment or intervention methods, thereby helping to limit long-term complications.

Sign 2: Palpate the spine to detect abnormalities

Examine the spine by gentle palpation

• Use your fingertips to gently palpate along the midline of the spine to detect any abnormalities such as subcutaneous fat masses, lumps, raised areas, or deep skin dimples.
• The examination should be performed gently, without applying strong pressure, to avoid discomfort, especially in infants and young children.

Recognize signs that may be related to spina bifida

• Some cases of spina bifida occulta may present with fatty masses, protrusions, or skin dimples due to abnormal development of bone, fatty tissue, or the membranes surrounding the spinal cord.
• These signs are sometimes external manifestations of occult neural tube defects, even if the child does not yet show clear symptoms related to movement or sensation.

Early examination for accurate diagnosis

• If any abnormal masses or changes are detected on the midline of the spine, take the child to a doctor for evaluation.
• The doctor may order an ultrasound or other imaging tests to determine whether these signs are related to spina bifida or another condition.
• Early detection helps with timely monitoring and treatment, reducing the risk of affecting neurological function and a child's development.

Sign 3: Pay attention to unusual tufts of hair on the back

Observe the tuft of hair along the spine

• Check the skin along the midline of the spine for an unusual tuft of hair or a dense patch of hair.
• This sign can appear from birth and is more easily noticeable when closely examining the lower back.

A tuft of hair can be a sign of spina bifida

• In some children with spina bifida, the spine does not close completely during the embryonic stage, leading to an unusual tuft of hair appearing on the skin above.
• This is one of the cutaneous signs that may be related to neural tube defects, especially spina bifida occulta. However, not all cases with a tuft of hair have the condition.

Not always detected prenatally

• Some cases of spina bifida are not detected during pregnancy because ultrasound images do not clearly show the spine or the lesion is too small to be recognized.
• Therefore, after the child is born, parents should still pay attention to any unusual signs on the back and take the child for examination if they have any suspicions.

Take the child to a medical facility if abnormal signs are suspected

• If a tuft of hair appears along with other abnormalities such as deep skin dimples, lumps, discolored skin areas, or spinal deformities, take the child to a doctor for examination.
• The doctor may order an ultrasound or magnetic resonance imaging (MRI) if necessary to determine whether these signs are related to spina bifida and to develop an appropriate monitoring or treatment plan.

Sign 4: Recognize severe symptoms

Monitor for severe signs of spina bifida

• Some cases of spina bifida can cause significant damage to the spinal cord and nervous system, leading to severe symptoms at birth or appearing as the child grows.
• The severity of symptoms varies from person to person, depending on the location and extent of the spinal lesion.

Pay attention to abnormalities in the lower body

• Children may experience muscle weakness, reduced strength, or difficulty moving their legs.
• Some cases present with foot deformities, hip deformities, or spinal deformities, affecting the ability to stand and walk.
• More severely, children may experience partial or complete paralysis of both legs, requiring long-term intervention and rehabilitation.

Monitor bladder and bowel control

• Spina bifida can damage the nerves that control the bladder and bowel.
• Children may experience urinary incontinence, urinary retention, chronic constipation, or fecal incontinence, increasing the risk of urinary tract infections and affecting their quality of life.

Properly assess intellectual development

• Not all children with spina bifida have cognitive impairments.
• Most children without hydrocephalus develop intellectually normally and can learn and live like other children.
• If hydrocephalus or other neurological complications are present, children may require early monitoring and developmental support to achieve better outcomes.

Rare symptoms

• In some very rare cases, spina bifida may be associated with impaired vision or hearing.
• If a child shows signs of poor vision, poor hearing, or delayed response to sounds and images, parents should take them for examination to determine the cause.

Take the child to a doctor immediately if abnormal signs appear

• If the child has leg weakness or paralysis, lower limb deformities, loss of bladder or bowel control, or delayed motor development, take them to a medical facility as soon as possible.
• Early diagnosis and treatment help reduce the risk of complications and improve motor skills and quality of life for children with spina bifida.

Sign 5: Observe the fluid sac on the child's back

Check for a bulging fluid sac on the spine

• One of the typical signs of spina bifida is the appearance of a fluid sac protruding from the back, usually along the midline of the spine.
• This fluid sac may contain the membranes surrounding the spinal cord or even the spinal cord itself, depending on the specific type of condition.
• In some children, the fluid sac is covered by a very thin layer of skin, while in other cases, the fluid sac may be clearly exposed and require urgent medical attention.

This is a sign of severe spina bifida

• A bulging fluid sac on the back is usually associated with severe forms of spina bifida, which carry a direct risk of affecting the spinal cord and nerves.
• The greater the extent of the damage, the higher the risk of motor and neurological complications.

Monitor for accompanying symptoms

• Children may experience weakness or partial or complete paralysis of both legs, causing difficulty with movement and physical development.
• Some cases experience impaired bladder and bowel control, including urinary incontinence, urinary retention, or fecal incontinence due to nerve damage.

Take the child to the hospital immediately

• If you find that your child has an abnormal fluid sac in the spinal area, do not touch it, puncture it, or apply pressure to it yourself.
• Take the child to a medical facility or specialized hospital as soon as possible for assessment and treatment.
• Early intervention helps reduce the risk of infection, protect the spinal cord, and improve the long-term prognosis for children with spina bifida.

Sign 6: Monitor for difficulty feeding and breathing

Pay attention to abnormal feeding and breathing signs

• Children with spina bifida may experience difficulty suckling, swallowing, or feeding, especially if the condition is accompanied by neurological complications.
• Some children may experience poor feeding, easy choking, wheezing, weak breathing, or short periods of apnea. These are all signs that need to be evaluated early.

Chiari II Malformation as a Possible Cause

• Some cases of spina bifida are accompanied by Chiari II malformation, a condition where part of the brain tissue moves lower than normal into the neck or spinal canal.
• This change can compress nerve structures that control breathing, swallowing, and many other vital bodily functions.

Monitor for Additional Neurological Manifestations

• In addition to difficulty eating and breathing, children may experience symptoms such as shoulder or arm weakness, reduced upper limb movement, poor coordination, or delayed motor development.
• The severity of symptoms can vary among children, from mild to severe, depending on the extent of compression caused by the malformation.

Take Your Child to the Doctor Immediately If Warning Signs Appear

• If your child shows signs of difficulty feeding, swallowing, breathing, abnormal breathing, or limb weakness, take them to a medical facility immediately for examination.
• The doctor may order an MRI or other necessary tests to determine if Chiari II malformation is present and to develop an appropriate treatment plan.
• Early detection of complications related to spina bifida helps reduce the risk of long-term neurological damage and improves the child's quality of life.

Manifestation 7: Pay Attention to Abnormally Large Head Size in Children

Observe the child's head size

• Children with spina bifida are at risk of hydrocephalus, a condition where too much cerebrospinal fluid accumulates in the brain, increasing intracranial pressure.
• One of the most easily recognizable signs is the child's head growing abnormally large for their age or a rapid increase in head circumference in a short period.
• Regular measurement and monitoring of head circumference helps detect abnormalities early for timely intervention.

Monitor for symptoms of hydrocephalus

• In addition to an enlarged head, children may exhibit symptoms such as:
  • Excessive sleepiness or lethargy.
  • Prolonged, inconsolable crying.
  • Constant downward gaze ("setting sun" sign).
  • Seizures.
  • Nausea or frequent vomiting.
• If these symptoms appear, the child should be taken to the hospital immediately for evaluation and treatment.

Be wary of the risk of meningitis

• Some children with spina bifida, especially the open form, are at high risk of meningitis due to bacterial invasion of the membranes surrounding the brain and spinal cord.
• This is an emergency condition that can cause brain damage, leave neurological sequelae, or be life-threatening if not treated promptly.

Monitor for academic and cognitive development

• As children grow older, some may experience difficulties in learning and cognitive development, especially if they have hydrocephalus or associated neurological damage.
• Common manifestations include:
  • Difficulty concentrating for extended periods.
  • Delayed language development or difficulty with reading comprehension.
  • Limitations in calculation skills and mathematical reasoning.
• Early educational intervention and rehabilitation can significantly improve children's learning abilities and integration.

Take your child to the doctor if abnormal signs appear

• If your child has an abnormally large head, a rapidly increasing head circumference, or the neurological symptoms mentioned above, take them to a medical facility for examination.
• Early diagnosis and treatment of hydrocephalus as well as complications of spina bifida help reduce the risk of brain damage and improve the long-term prognosis for children.

Manifestation 8: Imaging for accurate diagnosis

Part 2: How to screen for spina bifida during pregnancy

Step 1: MSAFP testing during pregnancy

Perform MSAFP testing at the right time

• MSAFP (Maternal Serum Alpha-Fetoprotein) testing is a prenatal screening test that helps assess the fetus's risk of spina bifida and certain neural tube defects.
• The test is usually performed during the second trimester, ideally around 16–18 weeks of gestation, when the alpha-fetoprotein (AFP) levels in the mother's blood have the best diagnostic value.

Understand the meaning of AFP results

• AFP is a protein produced by the fetus. If maternal AFP levels are higher than normal, the fetus may be at risk for open spina bifida or other neural tube defects.
• However, an elevated AFP result does not necessarily mean the fetus has the condition, as many other factors can also alter this indicator, such as incorrect gestational age determination or multiple pregnancies.

MSAFP is only a screening test

• MSAFP testing cannot definitively diagnose spina bifida.
• If the results indicate a high risk, the doctor will order additional tests such as specialized prenatal ultrasound or amniocentesis if needed to accurately determine the fetus's condition.

Consult with your doctor for appropriate advice

• If MSAFP results are abnormal, pregnant women should not be overly anxious or conclude that the fetus has the condition on their own.
• Discuss with your obstetrician to have the results explained, assess risk factors, and choose appropriate follow-up tests.
• Timely spina bifida screening helps detect abnormalities early, thereby supporting pregnancy monitoring and developing a suitable care and treatment plan after birth if necessary.

Step 2: Ultrasound to detect spina bifida