Blount’s Disease

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.1 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.

Causes

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.

Symptoms

One or both legs may show bowing, which typically occurs just below the knee and may progress rapidly and unevenly.

Diagnosis

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.

Treatment options

In younger children and less severe cases, a corrective leg brace or orthotic may be used to manage the limb deformity. Another option is surgery to attach a guided-growth plate system. This inhibits the bone growth on one side of the deformity and allows the opposite side to catch up, straightening the leg. This may be all that is required in less severe cases.

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.2,3

Complications

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

“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.4 About half of children with clubfoot have the condition in both feet.

Causes

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.

Symptoms

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.

Diagnosis

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.

Treatment options

Clubfoot hinders normal walking so treatment should begin soon after birth. The most common treatment method involves stretching and casting (to hold the new position of the foot), performed repeatedly over several months, followed by minor surgery to lengthen the Achilles tendon under local anesthetic (Ponseti method). Stretching and use of special shoes and braces may be needed for up to three years after the surgery. Most children treated this way will have pain-free, normal-looking feet that function well.

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.5 In most cases, babies who are treated early are able to wear ordinary shoes and participate in normal activities when they are older.

Complications

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

Rickets is a condition that softens and weakens bones in children.

Causes

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).[6] Other genetic causes are very rare.6

Symptoms

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.

Diagnosis

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.

Treatment options

In the case of deficiencies, the first line of treatment is to add vitamin D and calcium pills to the diet, to let the body fix any bone problems itself. However, rickets caused by a genetic condition may need additional medicines and surgery.7 In less-severe cases, a brace can be used on the spine or limbs to support the bones as they grow.

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.7 Guided growth with small plates can be used to correct deformities.9

Complications

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

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.

Causes

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.

Symptoms

One or both legs may show bowing, usually just below the knee. It may progress rapidly and unevenly.

Diagnosis

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.

Treatment options

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.8 In certain cases, treatment with osteotomy (the surgical cutting of a bone or removal of a piece of bone) and external fixation is necessary.

Complications

If severe bow-leggedness is not treated, the symptoms can worsen, causing different leg lengths, pain and difficulties with mobility.

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

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.

Causes

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.

Symptoms

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.

Diagnosis

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.

Treatment options

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.[9] 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.9 Guided growth may be a good treatment in some cases.

Complications

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.10

Causes

It is present at birth and the exact cause is unknown.

 

Symptoms

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.10

 

Diagnosis

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.

 

Treatment options

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,9 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.11

Complications

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.

  1. Sabharwal S, Blount disease: an update. Orthop Clin North Am. 2015 Jan;46(1):37-47. doi: 10.1016/j.ocl.2014.09.002. Epub 2014 Oct 12. Review. PMID: 25435033
  2. Stevens PM, MD. Guided Growth for Angular Correction: A Preliminary Series Using a Tension Band Plate. J Pediatr Orthop & Volume 27, Number 3, April/May 2007
  3. Stevens PM. Growth Modulation for Angular ands Length Correction; Chapter 4 in Pediatric Lower Limb Deformities: Principles and Techniques of Management
  4. Parker SE, Mai CT, Strickland MJ, et al; National Birth Defects Prevention Network. Multistate study of the epidemiology of clubfoot. Birth Defects Res A Clin Mol Teratol. 2009;85(11):897–904.
  5. Ganger R, Radler C, Handlbauer A, Grill F. External fixation in clubfoot treatment – a review of the literature. J Pediatr Orthop B. 2012;21(1):52–8.
  6. U.S. National Library of Medicine (NLM). Genetics home reference: Hereditary hypophosphatemic rickets. Bethesda, MD: NLM; 2010. http://ghr.nlm.nih.gov/condition/hereditary-hypophosphatemic-rickets [Accessed November 2015].
  7. Mayo Clinic Staff. Diseases and conditions: Rickets. Rochester, MN: Mayo Foundation for Medical Education and Research; 2013. http://www.mayoclinic.org/diseases-conditions/rickets/basics/definition/con-20027091 [Accessed October 2015].
  8. Stevens PM, Grogan DP, Talavera F, DeBerardino TM. Pediatric genu varum. New York: Medscape; 2015. http://emedicine.medscape.com/article/1355974-overview [Accessed October 2015].
  9. Stevens PM and Klatt JB. Guided Growth for Pathological Physes Radiographic Improvement During Realignment J Pediatr Orthop 2008;28:632Y639
  10. Nationwide Children’s Hospital. Arthrogryposis. Columbus, OH: Nationwide Children’s Hospital. http://www.nationwidechildrens.org/arthrogryposis [Accessed November 2015].
  11. Boyd SA. Arthrogryposis multiplex congenita (multiple congenital contractures). Kenilworth, NJ: MSD Manual Professional Version; 2014. http://www.msdmanuals.com/professional/pediatrics/congenital-craniofacial-and-musculoskeletal-abnormalities/arthrogryposis-multiplex-congenita [Accessed October 2015].