Congenital Spine Abnormalities

Congenital spine abnormalities are disorders of the spine that develop very early in life. Some of these conditions may cause abnormal alignment of the spine. Others may affect the nerves, causing problems in moving the arms or legs, bathroom issues or pain.

Many congenital spine disorders are related to spina bifida. Babies born with spina bifida aperta or myelomeningocele may have an open defect on their backs where the skin over the spinal cord does not form correctly and the nerves are exposed. Spina bifida occulta is a condition that is not as severe as an open defect—children may have abnormalities in the bones, which may or may not cause symptoms.

Other common congenital spine abnormalities include:

Tethered spinal cord. Tethered spinal cord is a neurological condition that stretches the spinal cord like a rubber band. This happens when abnormal tissue attachments limit the movement of the spinal cord. A number of conditions may cause this, but it is closely related to spina bifida (myelomeningocele), abnormal fat in the spinal cord (lipomyelomeningocele) or other abnormalities. In some cases, tethered spinal cord is related to a tighter than normal connection (the filum terminale) between the spinal cord and the tailbone.
Abnormal spinal alignment. Abnormalities in spinal alignment may cause pain, loss of function and breathing restriction. An abnormal alignment may be described as:
- Kyphosis. Bone deformities cause the spine to bend forward.
- Lordosis. The spine bends too far backwards.
- Scoliosis. Abnormal bones make the spine bend sideways.

Symptoms of congenital spine abnormalities vary depending on a child’s specific condition but can include:

Pain
Numbness
Tingling
Difficulty walking
Difficulty sitting
Breathing problems
Bathroom issues (accidents, incontinence, constipation)
Infections

Diagnosis of Congenital Spine Abnormalities

Doctors at Riley at IU Health perform the following exams and tests to diagnose congenital spine abnormalities:

Clinical exam. A neurosurgeon will examine your child to check his or her back and spine to look for the specific signs of misalignment or lesions.
Imaging tests. A neurologist will recommend different imaging tests to get a better understanding of what is happening to your child’s spine and vertebrae. Imaging tests used include:
- Computed tomography (CT) to create images of the spinal column and spinal cord
- Magnetic resonance imaging (MRI) to see the tissues and structures of the spinal cord
- EOS to see how the spine aligns when your child is in an upright position
Urology exam. If your child is diagnosed with tethered spinal cord, the neurosurgeon may recommend a consultation with an urologist to evaluate bladder function.

Treatments

There are many treatment options for children. Treatment focuses on reducing pain, restoring function and correcting harmful abnormalities. Your child’s prognosis will depend on the severity of his or her condition. Treatments include:

Bracing. Some children with scoliosis respond well to the use of a brace, which keeps the spine in alignment as the child grows.
Surgery. There are many types of surgery for congenital spine abnormalities:
- Scoliosis. Riley at IU Health offers a multidisciplinary, comprehensive service to treat children with scoliosis. This approach includes evaluation of the breathing and nutrition status of the patient. Riley Children's Health offers the most advanced surgical treatments, including spinal cord monitoring and computer navigation of hardware.
- Tethered spinal cord. There are multiple options for surgically treating children with a tethered spinal cord. The spine itself may be shortened to relieve stress on the nerves. The nerves themselves may be freed by detaching them from scar tissue, fat or by releasing a tight filum terminale in selected patients. Many patients see real benefits after surgery and regain lost functions.

Key Points to Remember

Congenital spine abnormalities are disorders of the spine that develop very early in life.
Many congenital spine abnormalities are related to spina bifida.
Other common congenital spine abnormalities include tethered spinal cord and abnormal spinal alignment such as kyphosis, lordosis and scoliosis.
Symptoms vary depending on the specific condition but can include pain, numbness, tingling, difficulty walking and bathroom issues.
There are many treatment options for children with congenital spine abnormalities, including bracing and surgery.

Support Services & Resources

Visit the links below to discover support groups and more resources for congenital spine abnormalities.

Riley at IU Health offers a broad range of supportive services to make life better for families who choose us for their children's care.

Learn More About Riley Support Services

American Association of Neurological Surgeons

This national group provides patient information about tethered spinal cord and scoliosis, including facts about diagnosis, treatment and research efforts.

National Institute of Neurological Disorders and Stroke

The National Institutes of Health provide more information about the symptoms, treatment and research related to tethered spinal cord.

National Scoliosis Foundation

This national group provides support and the latest information about scoliosis management for healthcare providers and families living with the condition.

Spina Bifida Association

This site includes information about the congenital spine abnormalities associated with spina bifida.