A bone deformity is an atypical, structural deviation or distortion of the bone’s shape from its normal alignment, length, size. A bone deformity can be congenital or acquired.
Children’s bones grow and reshape themselves continually and extensively. Growth proceeds from a very vulnerable part of the bone named the growth plate (What’s the difference between Kid bones and Adult bones?). While reshaping and remodelling, old bone tissue is replaced by the new one, and many bone disorders and/or deformities come from these changes:
Bone deformities can also be:
There are four main different types of bone deformity:
All these different types of bones deformity can exist on their own, but it is frequent to find a combination of them together.
When a limb needs to be lengthened, or a bone needs to be corrected, there are several non-surgical and surgical treatments available, depending on the severity of the issue and the history of treatments that have already been done. Your doctor or orthopaedic surgeon will carefully evaluate what is appropriate for the case considering your child’s age, her/his medical history, the physical examination, imaging and blood and/or nerve tests.
External fixation, with metal rods or pins located outside the limb, is recommended in case of a quite complex deformity, which cannot be repaired using open reduction with internal fixation, and which is safer to correct gradually, avoiding injury to soft tissues such as nerves or blood vessels.
At the end of the healing process, the external fixator will be removed. It may also happen that your child needs to wear a cast for a short while after the fixator frame has been removed.
A hexapod-based system is a new and most advanced method for bone deformities’ correction. It combines two parts, a hardware and a software: the hardware part is made of metal rings which are anchored to the bone by screws and wires; the software part incorporates imaging to determine the precise measuring and positioning of the fixator, and allows for its simultaneous adjustment at multiple angles. This innovative system lets children with bone injuries/deformities receive customized care that can optimize clinical, aesthetics and functional outcomes.
In children bone deformity can gradually be corrected by stapling one side of the growth plate. By doing this, one side of the growth plate is harnessed, while the other side goes on growing. As soon as the bone is straight, the staple can be removed to allow symmetric development of the whole growth plate. This surgical technique has the advantage to be minimally invasive and it is often performed on an outpatient basis.
There are many types of limb deformities. Click on the links below to start learning more about some of the most common conditions and their treatment options:
Blount’s disease, also known as tibia vara, is a condition in which growth does not occur normally in the growth plates of the lower leg, resulting in deformities that may differ in direction and severity. Its estimated prevalence in the United States is less than 1 percent, but the effects can be distressing. Severe bowing of the legs can also result, causing pain and mobility issues. It is different from physiological bow legs, which tend to straighten as the child grows; your doctor will be able to tell you which your child is experiencing.
It occurs in young children and adolescents. The cause is not certain; it seems to be associated with early walking and above-average weight, and may be caused by the effects of weight on the growth plates. There is a definite genetic element and some patient groups, such as African Americans, seem more likely to develop Blount’s Disease.
One or both legs may show bowing, which typically occurs just below the knee and may progress rapidly and unevenly.
An orthopedic specialist will examine the legs to determine the inward-bending angle and will confirm the diagnosis by performing an X-ray of the knee.
In more severe deformities, an operation called an osteotomy (the surgical cutting or removal of a piece of bone to change how bones line up) may be required. After osteotomy, either external or internal fixation will be used to hold the new bone in place. Osteotomy was once the most often used form of surgical management in severe Blount’s disease. If caught early enough, Guided Growth may be used instead in some cases.
If Blount’s disease is not treated, the symptoms can get worse, causing different leg lengths, pain and trouble walking. The condition can come back after surgery, especially in younger children, who are still growing. A specialist can help you determine the right time to perform any surgery.
“Clubfoot” is diagnosed when a baby’s foot is twisted down and in. Usually present at birth, clubfoot occurs in about 1.3 per 1,000 births (0.13 percent), and is usually an isolated problem for an otherwise-healthy baby. About half of children with clubfoot have the condition in both feet.
The cause is at least partly genetic, because it is known to run in families. Otherwise it is not known, but it might happen when muscles are not even in the lower leg.
In clubfoot, the top of the foot usually twists down and in. The arch is high, and the heel also turns in. In more-severe cases, the foot might actually look upside-down. Even though clubfoot may shorten the foot and affect normal growth of the calf muscles, clubfoot itself doesn’t actually cause discomfort or pain.
A doctor can usually diagnose clubfoot based on how the foot looks after birth or sometimes also during routine ultrasound scans during pregnancy. In some cases, X-rays may be needed to determine the severity of the condition.
However, severe clubfoot that has not gotten better with stretching and casting may need surgery and possibly the use of external fixation, which can be used to help reshape the muscles and other soft tissue over the course of several months to one year. In most cases, babies who are treated early are able to wear ordinary shoes and participate in normal activities when they are older.
Even after treatment, once your child starts to stand and walk, mobility may be slightly limited. In addition, shoe sizes may differ between the clubfoot and the unaffected foot. If left untreated, your child is likely to have a lack of normal muscle growth, arthritis, inability to walk normally and, perhaps, self-esteem issues related to how the foot looks.
Rickets is a condition that softens and weakens bones in children.
A lack of vitamin D or calcium is the most common cause of rickets. Because rickets is not a reportable disease in the United States there aren’t any national statistics. However, of the genetic causes of rickets — those that cannot be fixed simply by changing diet and nutrition — the most common is X-linked hypophosphataemic rickets, which happens in 1 in 20,000 newborns (.005 percent). Other genetic causes are very rare.
Children with genetic rickets may suffer from bone pain, bones that break easily, stunted growth, muscle cramps, and bone deformities such as bow leggedness (genu varum) and spinal deformities.
Blood tests can diagnose rickets and x-rays may be needed to understand the extent of bone deformities. Bone density scans may be needed to see how severe the disease is.
In more severe cases of limb deformity, gradual osteotomy (the surgical cutting or removal of a piece of bone to change how bones line up) and the use of external fixation can be used to both support and reshape the limbs as they grow and get stronger. Guided growth with small plates can be used to correct deformities.
If untreated, rickets can lead to very stunted growth, dental problems and seizures. Bone problems need to be treated to prevent pain and issues with mobility.
Genu varum, or bow leggedness, may present at any time from infancy through adulthood. It can affect one or both legs, and medical and genetic history may help doctors understand how the condition will progress, and for how long. As genu varum becomes more severe, the patient may start to waddle and have discomfort while walking. In children up to 2 years old, painless bowing on both sides may occur and often fixes itself over time.
Genu varum is normal in the very young and may happen in older children due to rickets and Blount’s disease as already discussed, or because of bone problems, infection or tumors.
One or both legs may show bowing, usually just below the knee. It may progress rapidly and unevenly.
An orthopedic specialist will look at the legs to determine how far they bend inward and will confirm the diagnosis with an X-ray of the knee.
Bowing that causes problems and does not fix itself will be seen in X-rays and may need treatments including surgery. Physical therapy exercises, special shoes and limits on standing and activity may be needed before or after surgery. Guided growth may be the best treatment to help straighten the limb. In certain cases, treatment with osteotomy (the surgical cutting of a bone or removal of a piece of bone) and external fixation is necessary.
The condition can come back after surgery, especially in younger children, who are still growing. A specialist can help you determine the right time to perform surgery.
Genu valgum, also known as knock-knees, may be a passing trait in children. When knock-knees are severe, there can be strain on the knee, which results in pain.
Genu valgum can be passed down through genes, or it can happen because of injury, infection or a problem with metabolism that has affected the bones.
When standing, your child’s knees will touch or be closer together than the ankles, pushing the ankles further apart. Knock-knees can cause pain, discomfort and a limp.
An orthopedic specialist will look at the legs to see if the angle is not in a normal range. An X-ray of the knee may be needed to confirm the severity of knock-knees.
This deformity can sometimes be managed with noninvasive methods, such as limits on activity, nonsteroidal anti-inflammatory drugs such as ibuprofen, braces, exercise programs and physical therapy. When these methods don’t work, surgery may be needed. Osteotomy (the surgical cutting or removal of a piece of bone) and correction with external fixation is a useful way to support and straighten the limb in the management of genu valgum. Guided growth may be a good treatment in some cases.
If untreated, the symptoms can worsen, causing pain, problems with movement and even arthritis.
Arthrogryposis Multiplex Congenita
Arthrogryposis is a non-progressive (it does not worsen over time) disorder that is present at birth, involving many muscle and tendon shortenings that limit joint movement. It occurs in approximately 1 per every 3000 births (.03 percent), and can affect all four limbs, or upper or lower limbs only.
It is present at birth and the exact cause is unknown.
Muscles and tendons are shortened, so the limbs may be “stuck” in one position. The child’s limbs are often thin, with weakened muscle and abnormal joints resulting in, among others, knee contractures and foot conditions.
A doctor will perform an examination, taking into account the symptoms and their appearance. If more information is needed, imaging tests — such as X-ray, CT or MRI — may be performed, along with more specialized tests, such as muscle or skin biopsy, blood tests and nerve tests.
Arthrogryposis can be treated with joint manipulation, orthotics and casting, particularly in the first few months of life. For correction of severe and ongoing deformities, surgery may be required. Surgery can be as simple as releasing the Achilles tendon or the use of external fixation, which may be required for realignment and can help to lengthen limbs that have contractures. Although this method may not significantly help mobility, surgical procedures to transfer muscle may improve function.
Proper treatment helps improve the range of motion and your child’s ability to use their limbs although there is no way to completely “fix” arthrogryposis. Depending on the severity of the condition, people with arthrogryposis may have few physical limitations after treatment, while others who are more severely affected may live with discomfort and lack of mobility, and require physical assistance for daily activities.
On the contrary, deformities which are asymmetrical and associated with symptoms may indicate a serious underlying cause leading to aesthetics and functional deficits that will require surgical orthopaedic treatment.
Genu varum (bow legs) and medial tibial torsion are normal in newborn and infants up to 12 months. It improves with growth: when child starts standing and walking the lower limbs gradually straighten (with normal growth) up to a zero tibiofemoral angle (18-24 months). At this stage, knees generally turn to valgus (knock-knee). Finally the genu valgum spontaneously correct at the age of 7, until the adult alignment of the lower limbs of 8 degrees of valgus in the female and 7 in the male. Therefore, after 2 years angular bow-legs are to be considered pathologic, while Knock-knees often correct themselves by the age of 9, without a treatment. If they persist after the age of 10, they may require surgical treatment. Femoral torsion (twisting), either internal or external, can gradually decrease without treatment, but sometimes (after the age of 8) it may require surgery.
Some experts think that a high amount of stress and strain imposed too early on a joint, during growth and/or adolescence (for example, through intensive sport practice) may contribute to this type of growth deformity, but so far not enough scientific data are available. However, it’s known that the most frequent causes of angular growth deformities of long bones in children are growth disorder, previous trauma or injuries, cancer and/or infections, or a pathologic condition - often caused by Blount’s Disease (tibia vara) and renal rickets, or vitamin D deficiency.
The two legs appear asymmetrical. Children with physiologic varus or valgus angulation at the knee generally do not exhibit a thrust. On the contrary, in pathologic conditions a thrust is often present, suggesting incompetence of the knee ligaments, which increases the potential for progression of the deformity. In internal femoral torsion the thighbones curve inward; in external femoral torsion they curve outward. Internal or external femoral torsions can make walking quite difficult. The child can also walk or run in an unusual way on the toes, or rotating the leg.
Familiarity with the natural history of angular deformities and with normal growth patterns is necessary to diagnose and evaluate malalignment. Diagnosis should include family history, any description of onset and information about the progression of the deformity, plus a selective use of X-rays, CT and MR imaging. The child will be observed walking, with attention to her/his knees during the stance phase, to determine if lateral thrust (genu varum) or medial thrust (genu valgum) occur. The physician should know the diet and amount of vitamins taken by the child, inquire about milk allergy, or intoxication to metal – specifically to lead and fluoride.
All children with significant deformity (stage III-V) should be considered for surgery by osteotomy with internal and/or external fixation. If performed at an early stage the surgeon will usually obtain complete and permanent correction of the child’s limb deformity, whereas there is a greater chance for recurrence if osteotomy is done in later years.
Ask your physician or surgeon to explain all the possible complications if your child’s bone deformity is left untreated. Contact her/him for any doubt or question you may have.
Charcot-Marie-Tooth Disease (CMT) is a group of inherited neurological disorders involving the peripheral nerves — that is, those that are outside the brain and spinal cord, and govern the motor and sensory capabilities in the limbs (such as walking). Its estimated prevalence in the general population is 1 in 2500 (.04%).
CMT is caused by congenital mutations in genes involved with the structure and function of the nerves governing the feet, legs, hands and arms. There is no single faulty gene and there are many varieties of CMT caused by different genetic faults.
Usually develop between 5 and 15 years but may develop later. Foot deformities may occur, and the lower legs may have an “inverted champagne bottle” appearance as muscle bulk is lost. As the disease gradually progresses, weakness and loss of fine motor skills may occur, with pain ranging from mild to severe.
Examination by a neurologist will raise the possibility of the disease, which will be confirmed by nerve conduction studies, electromyography to measure the electrical activity of your muscles, and sometimes in uncertain cases by nerve biopsy.
Although CMT cannot be cured, it can be managed with physical therapy, braces, pain medication and surgery. Osteotomy (the surgical cutting of a bone or removal of a piece of bone) and treatment with an external fixation device can help to reverse foot and joint deformities, aiding support and strength.
Left untreated, CMT leads to pain and difficulties walking, which decrease everyday activity levels and in turn, adversely affects quality of life and further deteriorates mobility. Foot wounds, foot fractures and more-severe deformities of the foot and ankle may also occur.
Pes Cavus foot is another name for a high-arched foot. Prevalence in the population is estimated to be 8–15 percent.
Severe pes cavus can be caused by progressive neurological disorders (e.g., spinal trauma, muscular dystrophy, hereditary neuropathy), static neurological disorders (e.g., stroke, cerebral palsy) and other causes, such as foot trauma.
The shape of the foot may range from a slight high arch to a severe deformity actually causes a patient to walk on the outside of the foot.
An X-ray will confirm a diagnosis of pes cavus and its severity.
Slight high arches are usually corrected or managed with specially designed footwear (orthotics) and severe deformity may require surgery to achieve realignment. Osteotomy (the surgical cutting of a bone or removal of a piece of bone) and external fixation can correct a severe deformity, thus reducing pain, improving function, and reducing the incidence of deformity-related injuries, such as ankle sprains and broken bones. However, realignment through external fixation must be supplemented with soft-tissue–balancing procedures, such as tendon transfer and orthotic management, in order to maintain the correction.
Left untreated, pes cavus causes foot pain — and, potentially, knee, hip and back pain — that limits mobility. People with pes cavus may also be more prone to broken bones in the lower legs.
Pes planus is more commonly known as flat-foot. Both children and adults may be flat-footed and it’s estimated that the prevalence of pes planus in the general population is about 20–30 percent. In fact, normal arch development in children does not typically occur until between 3 and 5 years old. Slightly-lowered arches are usually symptom-free. Adult Acquired Flatfoot Deformity (AAFD) may develop from a normal foot in adult life.
In pathological flatfoot the arch of one foot or both feet has either not developed normally, or an injury or condition, such as rheumatoid arthritis, stroke or diabetes has produced it. It may develop as a result of degenerative changes in joints and / or ligaments; this will tend to be in older patients and people who are very heavy. It may also occur as a result of trauma to the bones and / or ligaments. An increasingly common cause seems to be neuropathic problems secondary to diabetes, as an early manifestation of Charcot foot.
The arch of the foot is lowered or flattened out, depending on the severity. Issues such as discomfort and chronic pain can arise if, for example, there is a minor injury, sudden weight gain, poorly-fitted footwear, and excessive standing, walking, jumping or running.
Diagnosis is usually by clinical examination. In young people the flat foot that is apparent when standing disappears when they stand on tip toe, and the normal arch appears. This is flexible flat foot, is usually symptomless and requires no treatment. X-rays may be helpful when there is a history of injury, but may not be necessary.
Management in less-severe cases generally consists of wearing spacious, comfortable footwear with good arch support, possibly supplemented by padding or orthotics, in order to balance and cushion the foot. The object of treatment is to restore anatomy and function as much as possible. Surgery sometimes with osteotomy (the surgical cutting of a bone or removal of a piece of bone), may be necessary if the deformity is fixed. Bone grafting to replace lost bone may be necessary. Each case is different and there are many types of treatments; it is best to discuss your treatment in detail with your specialist rather than attempt to summarise the options here.
If not treated, certain cases of pes planus can result in severe deformity and early onset of arthritis of the foot and ankle, causing severe pain and significantly reducing the ability to walk, even when wearing orthotics. Even after surgery, you may need to wear orthotics for the rest of your life.
The www.limbhealing.com website features information on deformity, patient stories and more useful resources to empower patients with a limb deformity and their families, with a focus on lower-limb and foot deformities.