Genetics Northern California

Orthopedic concerns

Clubfoot, also known as "talipes",  is a curled shape or twisted positioning of the ankles, heels and toes. A major consequence of spina bifida is the interruption or blockage of nerve pathways below the spinal lesion or area of the birth defect. When the nerve pathways in the legs and feet of a growing child are not working normally, the muscles and other tissues do not develop as they should, and clubfeet can result.

Spinal nerves branch off of the spinal cord at each vertebra (bone in the spine), and go outward and downward. The nerves of the lumbar spine (low back) are responsible for muscles on the front of the legs. Nerves of the sacral spine (very low back) are responsible for muscles on the back of the legs, and for the nerves that control  the bladder and lower bowel (intestine).

Clubfeet are managed with stretching and splinting or bracing by physical therapists. Sometimes orthopedic surgery is necessary to lengthen or release one or more tendons (the tissue that connect the muscle to the bone), to allow the foot to be in a position that allows a person to stand. Partial or complete paralysis (inability to move voluntarily)of the legs does not mean that a person will never walk, though many people with spina bifida will require splints or braces in order to do so.

Walking with partial paralysis takes a great deal more energy than walking with an intact nervous system. Walking becomes even more difficult as a person gets larger, especially in school when there is little time between classes and there are heavy books to carry. It is up to each individual to decide whether and how much they will use a wheelchair.

Hip instability
In the normal hip, the top part of the thigh bone (femoral head) is located well within the hip socket (acetabulum), forming the hip joint. Muscle problems in children with spina bifida will initially result in "hip dysplasia", when the hip socket does not form its normal deep cup, so the top of the thigh bone can easily become dislocated from the hip socket. The result of this process is "hip instability".

Hip instability can progress from normal (femoral head located within a well-formed socket) to subluxed (partial uncovering of the femoral head by a shallow acetabulum) to dislocation (femoral head no longer fits well into the socket).

There is a high incidence of hip instability in children with spina bifida as a result of muscle imbalance around the hip joint. Twenty-five to fifty percent of newborns with high to mid-lumbar lesions have subluxed or dislocated hips. In the early childhood years, at least 25% more of these children will have hips that become unstable. This tendency toward hip instability is explained by problems in the nerves in the lumbar and sacral spine that control the muscles involved in moving the hip.

Early action is needed to prevent hip contractures, which can interfere with a child's ability to walk. This can be done by physical therapy, stretching exercises and/or early splinting, bracing, or casting to maintain normal hip positioning. Surgery is an option if  help is needed for more significant problems.

Fractures are broken bones. To reduce the chance of fractures, bones should be strong (well- mineralized). Weight-bearing activities like walking and running normally promote strong bone development.

Most people with spina bifida have some leg problems that limit their ability to bear weight. As a result, their leg bones are relatively thin and brittle, and easier to break. There may also be decreased feeling in the legs, so it is possible for a person with spina bifida to have a broken leg and not know it.

These are warning signs of a broken bone for a person with diminished sensation:

  • unexplained fever

  • swelling

  • a focal area of redness and/or warmth

  • deformity (abnormal shape or position) of the foot or leg, with or without pain

If you observed any of these signs, notify the SBC staff. We may ask you to obtain an x-ray to rule out a fracture.

Spine problems (Scoliosis/kyphosis)
Scoliosis and kyphosis are deforming curves of the spine. Scoliosis is a curve toward the side, and kyphosis is a curve toward the front of the body. Many patients with spina bifida develop these problems, and over time the problems can get worse. This is most likely to happen during a growth spurt.

Scoliosis and kyphosis may affect posture and balance, but as the spinal curve increases, more serious consequences can develop, such as:

  1. Pain - Sitting comfortably can become extremely difficult, and pressure ulcers can arise, particularly in those persons using wheelchairs, as undue pressure is placed on the side of the hip or buttock opposite the curve.

  2. Problems with digestion, increased constipation, and urinary discomfort and infections may result from displacement of internal organs such as the intestines and urinary system.

  3. Breathing can become impaired, since the curved spine can prevent the lungs from fully expanding. Body tissues may not get enough oxygen, which can lead to chronic "air hunger" and damage to body tissues.

For these reasons, periodic spine x-rays are obtained to watch for scoliosis or kyphosis. If spine curvature becomes severe, lung function tests may be ordered to evaluate breathing ability. A body jacket (cast or brace on the upper body/chest) may be recommended to maintain support of a more correct "curve". If an individual has a curve that increases to a significant degree, however, surgical options will be considered. The goal is to prevent serious health consequences related to impaired body functioning.

Spinal fusion
Spinal fusion is an operation performed to stiffen or stabilize the spine. Fusion generally involves both the use of metal stabilizing rods that are attached to the vertebrae (and sometimes anchored to the pelvis) with hooks and screws, and other surgical techniques to promote the bones to "fuse" or stick together strongly. Many individuals with spina bifida have a progressive form of scoliosis or kyphosis that requires a spine fusion or stiffening operation.  Spinal fusion is a complex surgery that may require a one to two week hospital stay, and months in a body cast.