Clubfoot | |
---|---|
Other names | Clubfeet, congenital talipes equinovarus (CTEV) [1] |
Bilateral clubfeet | |
Specialty | Orthopedics, podiatry |
Symptoms | Foot that is rotated inwards and downwards [2] |
Usual onset | During early pregnancy [1] |
Causes | Unknown [1] |
Risk factors | Genetics, mothers who smoke cigarettes, males, [1] ethnicity |
Diagnostic method | Physical examination, ultrasound during pregnancy [1] [3] |
Differential diagnosis | Metatarsus adductus [4] |
Treatment | Ponseti method (manipulation, casting, cutting the Achilles tendon, braces), French method, surgery [1] [3] |
Prognosis | Good with proper treatment [3] |
Frequency | 1 in 1,000 [3] |
Clubfoot is a congenital or acquired defect where one or both feet are rotated inward and downward. [1] [2] Congenital clubfoot is the most common congenital malformation of the foot with an incidence of 1 per 1000 births. [5] In approximately 50% of cases, clubfoot affects both feet, but it can present unilaterally causing one leg or foot to be shorter than the other. [1] [6] Most of the time, it is not associated with other problems. [1] Without appropriate treatment, the foot deformity will persist and lead to pain and impaired ability to walk, which can have a dramatic impact on the quality of life. [5] [3] [7]
The exact cause is usually not identified. [1] [3] Both genetic and environmental factors are believed to be involved. [1] [3] There are two main types of congenital clubfoot: idiopathic (80% of cases) and secondary clubfoot (20% of cases). The idiopathic congenital clubfoot is a multifactorial condition that includes environmental, vascular, positional, and genetic factors. [8] There appears to be hereditary component for this birth defect given that the risk of developing congenital clubfoot is 25% when a first-degree relative is affected. [8] In addition, if one identical twin is affected, there is a 33% chance the other one will be as well. [1] The underlying mechanism involves disruption of the muscles or connective tissue of the lower leg, leading to joint contracture. [1] [9] Other abnormalities are associated 20% of the time, with the most common being distal arthrogryposis and myelomeningocele. [1] [3] The diagnosis may be made at birth by physical examination or before birth during an ultrasound exam. [1] [3]
The most common initial treatment is the Ponseti method, which is divided into two phases: 1) correcting of foot position and 2) casting at repeated weekly intervals. [1] If the clubfoot deformity does not improve by the end of the casting phase, an Achilles tendon tenotomy can be performed. [10] The procedure consists of a small posterior skin incision through which the tendon cut is made. In order to maintain the correct position of the foot, it is necessary to wear an orthopedic brace until 5 years of age. [11]
Initially, the brace is worn nearly continuously and then just at night. [1] In about 20% of cases, further surgery is required. [1] Treatment can be carried out by a range of healthcare providers and can generally be achieved in the developing world with few resources. [1]
Congenital clubfoot occurs in 1 to 4 of every 1,000 live births, making it one of the most common birth defects affecting the legs. [6] [3] [7] About 80% of cases occur in developing countries where there is limited access to care. [6] Clubfoot is more common in firstborn children and males. [1] [6] [7] It is more common among Māori people, and less common among Chinese people. [3]
Birth prevalence of clubfoot varies between 0.51 and 2.03/1,000 live births in low and middle-income countries (LMICs). [6] [7] [3]
Clubfoot disproportionally affects those in LMICs. About 80% of those with clubfoot, or approximately 100,000 children per year as of 2018, are born in LMICs. [6] [12]
Pharaohs Siptah and Tutankhamun had clubfeet, and the condition appears in Egyptian paintings. [13] Indian texts (c. 1000 BC) and Hippocrates (c. 400 BC) describe treatment. [14] In 1823, Delpech presented a new procedure to treat the condition. The new method, known as tenotomy, involved the cutting of the Achilles tendon. The surgical procedure had complications such as infections. [15]
Talleyrand might have had a congenital clubfoot, which if his uncle did as well, could have been genetic. [16] In any case, his handicap made him unable to follow his father into a military career, leaving the obvious career of the Church. [16]
In clubfoot, feet are rotated inward and downward. [1] [2] The affected foot and leg may be smaller than the other, while in about half of cases, clubfoot affects both feet. [1] [6] [7] Most of the time clubfoot is not associated with other problems. [1]
Clubfoot can be diagnosed by ultrasound of the fetus in more than 60% of cases. The earliest week of gestation in which the condition is diagnosed with a high degree of confidence was the 12th and the latest was the 32nd. Not all patients were diagnosed at an early stage. In 29% of fetuses the first ultrasound examination failed to detect the deformity which subsequently became obvious at a later examination. Clubfoot was diagnosed between 12 and 23 weeks of gestation in 86% of children and between 24 and 32 weeks of gestation in the remaining 14%. [17]
Without treatment the foot remains deformed and people walk on the sides or tops of their feet, which can cause calluses, foot infections, trouble fitting into shoes, pain, difficulty walking, and disability. [7] [3]
Hypotheses about the precise cause of clubfoot vary. However, research has found that genetics, environmental factors or a combination of both are associated with this condition. Evidence suggests that the etiology of clubfoot is most likely multifactorial. A meta-analysis and systematic review found that the most clinically relevant risk factors for clubfoot were family history, paternal and maternal smoking, maternal obesity, gestational diabetes, amniocentesis, and the use of selective serotonin re-uptake inhibitors (SSRIs). [18] Many 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." [19] The most commonly associated conditions are distal arthrogryposis or myelomeningocele. [3] The factors contributing to the development of clubfoot can be categorized as extrinsic and intrinsic factors. [20]
Extrinsic factors
Factors that can influence the positioning of the fetal foot in utero include oligohydramnios, breech presentation, Müllerian anomalies, multiple gestation, amniotic band sequence, or amniocentesis at <15 weeks of gestation. [20] In cases that impede normal growth and position for longstanding period of times, clubfoot can be accompanied with other deformations and may be associated with developmental hip dysplasia. [21] The theory of fetal growth arrest was proposed by Von Volkmann in 1863, and has been verified by other authors since. According to this theory, intrinsic errors or environmental insults during gestation prevents the correction of an equinovarus to pronated foot. [22] Other researchers hypothesize that clubfoot may derive from external insults during gestation. For example, a research study found an alarmingly high incidence of club foot and limb contractures associated with iatrogenic amniotic leakage caused by early amniocentesis between the 11th and 12th week of gestation. [23]
Intrinsic factors
Clubfoot can be diagnosed prenatally as early as 13 weeks of gestation via ultrasound. [25] According to the Society of Maternal-Fetal Medicine, a diagnostic testing for genetic causes is recommended when clubfoot is diagnosed prenatally. [20] If prenatal screening is suspicious for aneuploidy, karyotype analysis or chromosomal microarray (CMA) may be performed. However, if patients decline diagnostic testing, Cell-Free DNA is another screening option to identify high-risk pregnancies for aneuploidy and it is not diagnostic. [20] The incidence of chromosomal abnormalities in fetuses with prenatal diagnosis of clubfoot is relatively low. [26] Overall, fetal ultrasound should be performed with a prenatal diagnosis of clubfoot in order to classify the condition as either complex or isolated because of the significant differences in rates of chromosomal abnormalities and outcomes between these two groups. [24]
If one identical twin is affected, there is a 33% chance the other one will be as well. [1]
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. [27] Clubfoot can also be present in people with genetic conditions such as Loeys–Dietz syndrome and Ehlers–Danlos syndrome. [28]
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 of clubfoot. PITX1 and TBX4 are uniquely expressed in the hind limb. [29]
Clubfoot is diagnosed through physical examination. Typically, babies are examined from head-to-toe shortly after they are born. There are four components of the clubfoot deformity:
1 | Cavus: the foot has a high arch, or a caved appearance. | |
2 | Adductus: the forefoot curves inwards toward the big toe. | |
3 | Varus: the heel is inverted, or turned in, forcing one to walk on the outside of the foot. This is a natural motion but in clubfoot the foot is fixed in this position. | |
4 | Equinus: the foot is pointed downward, forcing one to walk on tiptoe. This motion occurs naturally, but in clubfoot the foot is fixed in this position. This is because the Achilles tendon is tight and pulls the foot downwards. |
Factors used to assess severity include the stiffness of the deformity (how much it can be corrected by manually manipulating the foot), the presence of skin creases at the arch and heel, and poor muscle consistency.
Sometimes, it is possible to detect clubfoot before birth using ultrasound. Prenatal diagnosis by ultrasound can allow parents to learn more about this condition and plan ahead for treatment after their baby is born. [30]
More testing and imaging is typically not needed, unless there is concern for other associated conditions.
Treatment is usually with some combination of the Ponseti method and French method. [3] [31] The Ponseti method involves a combination of casting, Achilles tendon release, and bracing. There are many commercial braces as well as an open-source hardware brace that can be made for about US$11 with a 3D printer. [32] The Ponseti method is widely used and highly effective under the age of two. [33] The French method involves realignment, taping, and long-term home exercises and night splinting. [3] It is also effective but outcomes vary and rely on heavy involvement of caregivers. [3] Generally, the Ponseti method is preferred. [3] [34] Another technique, the Kite method, does not appear to be as effective. [34] In about 20% of cases, additional surgery is required after initial treatment. [1]
The Ponseti method corrects clubfoot over the course of several stages.
The Ponseti method is highly effective with short-term success rates of 90%. [35] However, anywhere from 14% to 41% of children experience a recurrence of the deformity, with as many as 56% requiring an additional surgery beyond the 10 year mark. [36] [37] [38] The most common reason for this is inadequate adherence to bracing, such as not wearing the brace properly, not keeping it on for the recommended length of time, or not using it every day. Children who do not follow proper bracing protocol have up to seven times higher recurrence rates than those who follow bracing protocol, as the muscles around the foot can pull it back into the abnormal position. [36] Low parental education level and failure to understand the importance of bracing is a major contributor to non-adherence. [35] Relapses are managed by repeating the casting process. Relapsed feet may also require additional, more extensive surgeries and have a reduced chance of achieving subsequent correction. [35] Furthermore, research has revealed the possibility of overcorrection after use of the Ponseti method. [39] [38]
Another reason for recurrence is a congenital muscle imbalance between the muscles that invert the ankle (tibialis posterior and tibialis anterior muscles) and the muscles that evert the ankle (peroneal muscles). This imbalance is present in approximately 20% of infants successfully treated with the Ponseti casting method, and makes them more prone to recurrence. This relapse is usually treated with Ponseti casting and can be done multiple times before resorting to surgery. If after all non-surgical casting and bracing options have been exhausted, and when the child is over four years of age (many doctors prefer to wait until after seven years old), this can be addressed with a surgery to transfer the tibialis anterior tendon from its medial attachment (on the navicula) to a more lateral position (on the lateral cuneiform). The surgery requires general anesthesia and subsequent casting while the tendon heals, but it is a relatively minor surgery that re-balances the muscles of the foot without disturbing any joints.
The French method is a conservative, non-operative method of clubfoot treatment that involves daily physical therapy for the first two months followed by thrice-weekly physical therapy for the next four months and continued home exercises following the conclusion of formal physical therapy. During each physical therapy session the feet are manipulated, stretched, then taped to maintain any gains made to the feet's range of motion. Exercises may focus on strengthening the peroneal muscles, which is thought to contribute to long-term correction. After the two month mark, the frequency of physical therapy sessions can be weaned down to three times a week instead of daily, until the child reaches six months. After the conclusion of the physical therapy program, caregivers must continue performing exercises at home and splinting at night in order to maintain long-term correction.
Compared to the Ponseti method which uses rigid casts and braces, the French method uses tape which allows for some motion in the feet. Despite its goal to avoid surgery, the success rate varies and surgery may still be necessary. The Ponseti method is generally preferred over the French method. [3]
This section needs additional citations for verification .(December 2009) |
If non-operative treatments are unsuccessful or achieve incomplete correction of the deformity, surgery is sometimes needed. [40] 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. [30]
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. [41] Some people 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.
Despite effective treatments, children in LMICs face many barriers such as limited access to equipment (specifically casting materials and abduction braces), shortages of healthcare professionals, and low education levels and socioeconomic status amongst caregivers and families. [42] These factors make it difficult to detect and diagnose children with clubfoot, connect them to care, and train their caregivers to follow the proper treatment and return for follow-up visits. It is estimated that only 15% of those diagnosed with clubfoot receive treatment. [12]
In an effort to reduce the burden of clubfoot in LMICs, there have been initiatives to improve early diagnosis, organize high-volume Ponseti casting centers, utilize mid-level practitioners and non-physician health workers, engage families in care, and provide local follow-up in the person's community. [43]
Amniocentesis is a medical procedure used primarily in the prenatal diagnosis of genetic conditions. It has other uses such as in the assessment of infection and fetal lung maturity. Prenatal diagnostic testing, which includes amniocentesis, is necessary to conclusively diagnose the majority of genetic disorders, with amniocentesis being the gold-standard procedure after 15 weeks' gestation.
The ankle, the talocrural region or the jumping bone (informal) is the area where the foot and the leg meet. The ankle includes three joints: the ankle joint proper or talocrural joint, the subtalar joint, and the inferior tibiofibular joint. The movements produced at this joint are dorsiflexion and plantarflexion of the foot. In common usage, the term ankle refers exclusively to the ankle region. In medical terminology, "ankle" can refer broadly to the region or specifically to the talocrural joint.
The Achilles tendon or heel cord, also known as the calcaneal tendon, is a tendon at the back of the lower leg, and is the thickest in the human body. It serves to attach the plantaris, gastrocnemius (calf) and soleus muscles to the calcaneus (heel) bone. These muscles, acting via the tendon, cause plantar flexion of the foot at the ankle joint, and flexion at the knee.
Kyphosis is an abnormally excessive convex curvature of the spine as it occurs in the thoracic and sacral regions. Abnormal inward concave lordotic curving of the cervical and lumbar regions of the spine is called lordosis.
Pes cavus, also known as high arch, is an orthopedic condition that presents as a hollow arch underneath the foot with a pronounced high ridge at the top when weight bearing.
An omphalocele or omphalocoele, also known as an exomphalos, is a rare abdominal wall defect. Beginning at the 6th week of development, rapid elongation of the gut and increased liver size reduces intra abdominal space, which pushes intestinal loops out of the abdominal cavity. Around 10th week, the intestine returns to the abdominal cavity and the process is completed by the 12th week. Persistence of intestine or the presence of other abdominal viscera in the umbilical cord results in an omphalocele.
Arthrogryposis (AMC) describes congenital joint contracture in two or more areas of the body. It derives its name from Greek, literally meaning 'curving of joints'.
Flat feet, also called pes planus or fallen arches, is a postural deformity in which the arches of the foot collapse, with the entire sole of the foot coming into complete or near-complete contact with the ground. Sometimes children are born with flat feet (congenital). There is a functional relationship between the structure of the arch of the foot and the biomechanics of the lower leg. The arch provides an elastic, springy connection between the forefoot and the hind foot so that a majority of the forces incurred during weight bearing on the foot can be dissipated before the force reaches the long bones of the leg and thigh.
Achilles tendon rupture is when the Achilles tendon, at the back of the ankle, breaks. Symptoms include the sudden onset of sharp pain in the heel. A snapping sound may be heard as the tendon breaks and walking becomes difficult.
In pathology, a contracture is a shortening of muscles, tendons, skin, and nearby soft tissues that causes the joints to shorten and become very stiff, preventing normal movement. A contracture is usually permanent, but less commonly can be temporary, or resolve over time but reoccur later in life.
Foot and ankle surgery is a sub-specialty of orthopedics and podiatry that deals with the treatment, diagnosis and prevention of disorders of the foot and ankle. Orthopaedic surgeons are medically qualified, having been through four years of college, followed by 4 years of medical school or osteopathic medical school to obtain an M.D. or D.O. followed by specialist training as a resident in orthopaedics, and only then do they sub-specialise in foot and ankle surgery. Training for a podiatric foot and ankle surgeon consists of four years of college, four years of podiatric medical school (D.P.M.), 3–4 years of a surgical residency and an optional 1 year fellowship.
Toe walking is a term describing a type of walking style. Toe walking is when a person walks on their toes or the ball of their foot, without putting much or any weight on the heel or any other part of the foot. Toe walking in toddlers is common. Children who toe walk as toddlers commonly adopt a heel-toe walking pattern as they grow older. If a child continues to walk on their toes past the age of three, or cannot get their heels to the ground at all, they should be examined by a health professional who is experienced in assessing children's walking.
Ignacio Ponseti, also known as Ignasi Ponsetí i Vives, was a Spanish-American physician, specializing in orthopedics. He was born on 3 June 1914 in Menorca, part of the Balearic Islands, Spain, Ponseti was the son of a watchmaker and spent his childhood helping repair watches. This skill was said to eventually contribute to his abilities as an orthopedist. He served three years as a medic during the Spanish Civil War treating orthopedic injuries of wounded soldiers. He left Spain shortly after the end of the war and became a faculty member and practicing physician at the University of Iowa, where he developed his ground-breaking, non-surgical treatment for the clubfoot defect - the Ponseti Method.
The Ponseti method is a manipulative technique that corrects congenital clubfoot without invasive surgery. It was developed by Ignacio V. Ponseti of the University of Iowa Hospitals and Clinics, US, in the 1950s, and was repopularized in 2000 by John Herzenberg in the US and Europe and in Africa by NHS surgeon Steve Mannion. It is a standard treatment for clubfoot.
A tenotomy is a surgical act which involves the division of a tendon. It and related procedures are also referred to as tendon release, tendon lengthening, and heel-cord release.
Unlike the flexible flat foot that is commonly encountered in young children, congenital vertical talus is characterized by presence of a very rigid foot deformity. The foot deformity in congenital vertical talus consists of various components, namely a prominent calcaneus caused by the ankle equines or plantar flexion, a convex and rounded sole of the foot caused by prominence of the head of the talus, and a dorsiflexion and abduction of the forefoot and midfoot on the hindfoot. It gets its name from the foot's resemblance to the bottom of a rocking chair. There are two subcategories of congenital vertical talus; namely idiopathic or isolated type, and non-idiopathic type, which may be seen in association with arthrogryposis multiplex congenital, genetic syndromes and other neuromuscular disorders.
Comparative foot morphology involves comparing the form of distal limb structures of a variety of terrestrial vertebrates. Understanding the role that the foot plays for each type of organism must take account of the differences in body type, foot shape, arrangement of structures, loading conditions and other variables. However, similarities also exist among the feet of many different terrestrial vertebrates. The paw of the dog, the hoof of the horse, the manus (forefoot) and pes (hindfoot) of the elephant, and the foot of the human all share some common features of structure, organization and function. Their foot structures function as the load-transmission platform which is essential to balance, standing and types of locomotion.
Children's feet are smaller than those of adults, not reaching full size until the ages of 13 in girls and 15 in boys. There are correspondingly small sizes of shoes for them. In poor populations and tropical countries, children commonly go barefoot.
Congenital clasped thumb describes an anomaly which is characterized by a fixed thumb into the palm at the metacarpophalangeal joint in one or both hands. The incidence and genetic background are unknown. A study of Weckesser et al. showed that boys are twice as often affected with congenital clasped thumb compared to girls. The anomaly is in most cases bilateral . A congenital clasped thumb can be an isolated anomaly, but can also be attributed to several syndromes.
The management of scoliosis is complex and is determined primarily by the type of scoliosis encountered: syndromic, congenital, neuromuscular, or idiopathic. Treatment options for idiopathic scoliosis are determined in part by the severity of the curvature and skeletal maturity, which together help predict the likelihood of progression. Non-surgical treatment should be pro-active with intervention performed early as "Best results were obtained in 10-25 degrees scoliosis which is a good indication to start therapy before more structural changes within the spine establish." Treatment options have historically been categorized under the following types:
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