Clubfoot

For other uses, see Clubfoot (disambiguation).

Club foot
Other names	Clubfoot, congenital talipes equinovarus (CTEV)
Bilateral club foot
Specialty	Orthopedics
Frequency	1 in 1,000

Club foot is a birth defect where one or both foot are rotated internally at the ankle. Without treatment, people with club feet often appear to walk on their ankles or on the sides of their feet.

With treatment, most people do as well as the generally population. Some do very well, even participating in high level athletics. Even with treatment, there are usually residual changes with the foot and lower leg being smaller, stiffer, and weaker.

It occurs in about one in 1,000 newborns. In about half of people with clubfoot, it affect both feet. In most cases it is not associated with other problems. It occurs in males twice as often as in females.

Cause

There are many hypotheses about how clubfoot develops, involving environmental factors, genetics, or a combination of both. No study has pinpointed the root cause, but most findings agree that "it is likely there is more than one different cause and at least in some cases the phenotype may occur as a result of a threshold effect of different factors acting together."

Some researchers hypothesize, from the early development stages of humans, that clubfoot is formed by a malfunction during gestation. Early amniocentesis (11–13 wks) is believed to increase the rates of this deformity because there is an increase in possible amniotic leakage from the procedure. Underdevelopment of the bones and muscles in the embryonic foot may be another underlying cause. Underdevelopment prevents the fetus's foot from rotating medially, leaving it in the club formation after birth. It was widely believed in the early 1900s that constriction of the foot by the uterus contributed to clubfoot.

Underdevelopment of the bones also affects the muscles and tissues of the foot. Abnormality in the connective tissue causes "the presence of increased fibrous tissue in muscles, fascia, ligaments and tendon sheaths". Affected individuals have smaller than normal legs even after corrected.

Genetics

Mutations in genes involved in muscle development are risk factors for clubfoot, specifically those encoding the muscle contractile complex (MYH3, TPM2, TNNT3, TNNI2, and MYH8). These can cause congenital contractures, including clubfoot, in distal arthrogryposis (DA) syndromes. Clubfoot can also be present in people with genetic conditions such as Loeys-Dietz syndrome.

Genetic mapping and the development of models of the disease have improved understanding of developmental processes. Its inheritance pattern is explained as a heterogenous disorder using a polygenic threshold model. The PITX1-TBX4 transcriptional pathway has become key to the study. PITX1 and TBX4 are uniquely expressed in the hind limb.

Diagnosis

Diagnosis of clubfoot deformity is by physical examination. Typically, a baby is examined shortly after delivery with a head to toe assessment. Examination of the foot reveals the deformity, which may affect one foot or both. Examination of the foot shows four components of deformity.

• First, there is an increased arch. This component of the deformity can occur without the other aspects of clubfoot deformity. In isolation, this aspect of the deformity is called cavus deformity.
• Second, the forefoot is curved medially (toward the big toe). This component of the deformity can occur without the other aspects of clubfoot deformity. In isolation, this aspect of the deformity is called metatarsus adductus.
• Third, the heel is turned inward. This is a natural motion of the heel and subtalar joint, typically referred to as inversion. In clubfoot deformity, the turning in (inversion) of the heel is fixed (not passively correctable) and considered a varus deformity.
• Fourth, and finally, the ankle is pointed downward. This is a natural motion of the ankle referred to as plantar flexion. In clubfoot deformity, this position is fixed (not correctable) and is referred to as equinus deformity.

A foot that shows all four components are diagnosed as having clubfoot deformity.These four components of a clubfoot deformity can be remembered with the acronym CAVE (cavus, forefoot adductus, varus, and equinus).

The severity of the deformity can also be assessed on physical exam, but is subjective to quantify. One way to assess severity is based on the stiffness of the deformity or how much it can be corrected with manual manipulation of the foot to bring it into a corrected position. Other factors used to assess severity include the presence of skin creases in the arch and at the heel and poor muscle consistency.

In some cases, it may be possible to detect the disease prior to birth during a prenatal ultrasound. Prenatal diagnosis by ultrasound can allow parents the opportunity to get information about this condition and make plans for treatment after the baby is born.

Other testing and imaging is usually not needed. Testing may be needed if there are concerns for other associated conditions.

Treatment

Clubfeet in the course of correcting

Treatment is usually with serial casting that gradually moves the foot to an improved position, which is then maintained with part time bracing. Serial casting together with manipulation, Achilles tenotomy, and bracing, known as the Ponseti method, is effective in correcting the problem in those under the age of two. Another technique known as Kite does not appear as good..

If non-operative methods are unsuccessful, surgery to release tight tissues and lengthen short tendons is sometimes needed. Surgery was more common prior to the wide spread use and improved success with the serial casting of the Ponseti Method.These methods are described in more detail below.

Ponseti method

A foot abduction brace type Denis Browne bar. Various types of foot-abduction braces are used to hold the child's feet in the desired position.

Main article: Ponseti method

With the Ponseti method the foot deformity is corrected in stages, by manipulating the foot to an improved position and then holding it with a long leg cast. The cast is removed after a week, and the foot is manipulated again. The foot position usually improves over a course of 4-6 casts.

• The initial cast focuses on aligning the forefoot with the hindfoot as Ponseti describes the forefoot as relatively pronated in comparison to the hindfoot. Supinating the forefoot and elevating the first metatarsal improves this alignment.
• Subsequent casts are applied after stretching the foot with a focus on abducting the forefoot with lateral pressure at the talus, to bring the navicula laterally and improve the alignment of the talonavicular joint. In contrast to the Kite Method of casting, it is important to avoid constraining the calcanocuboid joint. With each additional cast, the abduction is increased and this moves the hindfoot from varus into valgus. It is important to leave the ankle in equinus until the forefoot and hindfoot are corrected.
• The final stage of casting, is to correct the equinus. After fully abducting the forefoot with spontaneous correction of the hindfoot, an attempt is made to bring the ankle up and into dorsiflexion. For the majority of children, the equinus will not fully correct with casting and a procedure is done to facilitate this final aspect of the deformity correction. The procedure is a percutaneous heel cord release or Tenotomy. Dr. Ponseti advocated for doing this in the clinic with a local anesthetic. For safety reasons, many centers perform this procedure with sedation or monitored anesthesia care. In this procedure, numbing medicine is applied, the skin is cleansed, and a small scalpel is used to divide the Achilles tendon. With a small scalpel there is minimal bleeding and no need for stitches. A small dressing is applied and a final clubfoot cast is applied with the foot in a fully corrected position. This cast is typically left in place for 3 weeks.

After correction has been achieved with casting, maintenance of correction starts with full-time (23 hours per day) use of a brace —also known as a foot abduction brace (FAB)—on both feet, regardless of whether the TEV is on one side or both, typically full-time for 3 months. After 3 months, brace wear is decreased and used mostly when sleeping for naps and at night-time. This part-time bracing is recommended until the child is 4 years of age.

Roughly 30% of children will have recurrence. A recurrence can usually be managed with repeating the casting process. Recurrence is more common when there is poor compliance with the bracing, because the muscles around the foot can pull it back into the abnormal position. Approximately 20% of infants successfully treated with the Ponseti casting method will have an imbalance between the muscles that invert the ankle (posterior tibialis and anterior tibialis muscles) and the muscles that evert the ankle (peroneal muscles). Patients with this imbalance are more prone to recurrence. After 18 months of age, this can be addressed with surgery to transfer the anterior tibialis tendon from it medial attachment (the navicula) to a more lateral position (the lateral cuneiform) to rebalance these muscle forces. While this requires a general anesthetic and subsequent casting while the tendon heals, it is a relatively minor surgery that corrects a persistent muscle imbalance while avoiding disturbance to the joints of the foot.

Botox has been investigated as a supplement to casting. Botox is the trade name for Botulinum Toxin type A, which is a chemical that acts on the nerves that control muscles. It causes a temporary paralysis (weakening) of muscles by preventing muscle contractions (tightening) without causing scaring or lasting damage. As part of the treatment for clubfoot, Botox is injected into the child’s calf muscle and it may facilitate how casting gets the foot to corrected position. It is not clear if Botox improves the results of the Ponseti Method enough to justify its use.

Surgery

If non-operative treatments are unsuccessful or achieve incomplete correction of the deformity, surgery is sometimes needed. Surgery was more common prior to the widespread acceptance of the Ponseti Method. The extent of surgery depends on the severity of the deformity. Usually, surgery is done at 9 to 12 months of age and the goal is to correct all the components of the clubfoot deformity at the time of surgery.

For feet with the typical components of deformity (cavus, forefoot adductus, hindfoot varus, and ankle equinus), the typical procedure is a Posteromedial Release (PMR) surgery. This is done through an incision across the medial side of the foot and ankle, that extends posteriorly, and sometimes around to the lateral side of the foot. In this procedure, it is typically necessary to release (cut) or lengthen the plantar fascia, several tendons, and joint capsules/ligaments. Typically, the important structures are exposed and then sequentially released until the foot can be brought to an appropriate plantigrade position. Specifically, it is important to bring the ankle to neutral, the heel into neutral, the midfoot aligned with the hindfoot (navicula aligned with the talus, and the cuboid aligned with the calcaneus). Once these joints can be aligned, thin wires are usually placed across these joints to hold them in the corrected position. These wires are temporary and left out through the skin for removal after 3-4 weeks. Once the joints are aligned, tendons (typically the Achilles, posterior tibialis, and flexor halluces longus) are repaired at an appropriate length. The incision (or incisions) are closed with dissolvable sutures. The foot is then casted in the corrected position for 6-8 weeks. It is common to do a cast change with anesthesia after 3-4 weeks, so that pins can be removed and a mold can be made to fabricate a custom AFO brace. The new cast is left in place until the AFO is available. When the cast is removed, the AFO is worn to prevent the foot from returning to the old position.

For feet with partial correction of deformity with non-operative treatment, surgery may be less extensive and may involve only the posterior part of the foot and ankle. This might be called a posterior release. This is done through a smaller incision and may involve releasing only the posterior capsule of the ankle and subtalar joints, along with lengthening the Achilles tendon.

Surgery leaves residual scar tissue and typically there is more stiffness and weakness than with nonsurgical treatment. As the foot grows, there is potential for asymmetric growth that can result in recurrence of foot deformity that can affect the forefoot, midfoot, or hindfoot. Many patients do fine, but some require orthotics or additional surgeries. Long-term studies of adults with post-surgical clubfeet, especially those needing multiple surgeries, show that they may not fare as well in the long term, according to Dobbs, et al. Some patients may require additional surgeries as they age, though there is some dispute as to the effectiveness of such surgeries, in light of the prevalence of scar tissue present from earlier surgeries.

History

Treatment of clubfoot is evident as early as Egyptian paintings. In early days, the foot was manipulated with a Thomas wrench and casting which caused fracture of several bones in the foot. Hippocrates around 400 B.C. was the first to offer a medical explanation.

Society and culture

Notable cases

The club-foot, by José de Ribera, in fact, a hemiplegia

Famous storyteller from Lapland. Juho "Nätti-Jussi" Nätti (surname can be translated as "pretty") who lived 1890-1964, was known for his stories but also his untreated left club foot. A story tells that "not even the devil himself could tell which way Nätti has gone" from the footprints on snow.

The figure-skater Kristi Yamaguchi was born with a clubfoot, and went on to win gold medals at both the 1992 Winter Olympics and World Championships. The soccer star Mia Hamm was born with the condition and won Gold twice with Team USA in the 1996 Olympics and in the 2004 Olympics. Baseball pitcher Larry Sherry, the 1959 World Series MVP, was born with club feet, as was pitcher Jim Mecir, and both enjoyed long and successful careers. In fact, it was suggested in the book Moneyball that Mecir's club foot contributed to his success on the mound; it caused him to adopt a strange delivery that "put an especially violent spin" on his screwball, his specialty pitch. The San Francisco Giants held the record as the team with the all-time highest number of players with clubbed feet as of July 2010, and Freddy Sanchez, one of its infielders, cites his ability to overcome the defect as a reason for his success. Tom Dempsey of the New Orleans Saints, born with a right club foot and no toes (this was his kicking foot), kicked an NFL record 63-yard (58 m) field goal. This kick became famous as the longest NFL field goal in history. Former NFL quarterback Troy Aikman beat being born with a clubfoot to enjoy a productive Hall of Fame career with 3 Super Bowl Rings in Super Bowl XXVII, Super Bowl XXVIII, and Super Bowl XXX. Despite a club foot, Michael Houser, goaltender for the London Knights of the Ontario Hockey League, won the Red Tilson Trophy as the most outstanding player in the OHL in 2011-2012. He was signed by the National Hockey League's Florida Panthers in July, 2012.

Egyptian pharaoh Tutankhamun had a club foot and a cleft palate, and it is likely that he needed a cane to walk.

Literature

• The main character, Philip Carey, in W. Somerset Maugham's novel Of Human Bondage, has a club foot, a central theme in the work.
• Hippolyte Tautain, the stable man at the Lion D'Or public house in Gustave Flaubert's novel Madame Bovary is unsuccessfully treated for clubfoot by Charles Bovary, leading to the eventual amputation of his leg.
• Charlie Wilcox, the main character in Sharon McKay's novel Charlie Wilcox had a club foot.
• In Yukio Mishima's seminal novel The Temple of the Golden Pavilion the character Kashiwagi has club feet which parallels the stutter of the main character, Mizoguchi.
• In David Eddings' Malloreon series, Senji the sorcerer has a club foot.
• In Caroline Lawrence's Roman Mysteries series, a character called Vulcan the blacksmith appears in the book "The Secrets of Vesuvius". He reveals that he gained the nickname because of his club foot.
• In Bernard Cornwell's The Warlord Chronicles Mordred, King of Dumnonia, has a club foot that is often used as a symbol for his ugliness and weakness as a ruler.
• In Daniel Keyes's Flowers for Algernon Gimpy, one of Charlie's co-workers at the bakery, has a club foot.
• In Perfume: The Story of a Murderer, the main character is born with a club foot and is described as having a limp throughout the novel.
• In Flannery O'Connor's short story "The Lame Shall Enter First", the character Johnson has a club foot, a major symbol within the story.