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Clubfoot

Clubfoot is a congenital or acquired defect where one or both feet are rotated inward and downward. Congenital clubfoot is the most common congenital malformation of the foot with an incidence of 1 per 1000 births. 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. Most of the time, it is not associated with other problems. 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.

Epidemiology
Birth prevalence of clubfoot varies between 0.51 and 2.03/1,000 live births in low and middle-income countries (LMICs). ==History==
History
Pharaohs Siptah and Tutankhamun had clubfeet, and the condition appears in Egyptian paintings. Indian texts () and Hippocrates () describe treatment. 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. Lord Byron was club-footed of his right foot. Some modern medical authors maintain that it was a consequence of infantile paralysis (poliomyelitis), and others that it was a dysplasia, a failure of the bones to form properly. Talleyrand might have had a congenital clubfoot, which if his uncle did as well, could have been genetic. In any case, his handicap made him unable to follow his father into a military career, leaving the obvious career of the Church. ==Signs and symptoms==
Signs and symptoms
In clubfoot, feet are rotated inward and downward. 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. ==Causes==
Causes
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). 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." The most commonly associated conditions are distal arthrogryposis or myelomeningocele. 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. 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. 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. Intrinsic factors Chromosomal abnormalities found in 30% and 2% of complex clubfoot and isolated clubfoot respectively. These include trisomy 18, 13, 21, sex chromosome abnormalities, micro-deletions and duplications. • Genetic Syndromes: Larsen, Gordon, Pierre-Robin, Meckel–Gruber, Roberts, Smith–Lemli–Opitz, TARP (Talipes equinovarus, Atrial septal defect, Robin sequence, Persistence of left superior vena cava). • Skeletal Dysplasias: Ellis van Creveld syndrome, diastrophic dysplasia, chondrodysplasia punctata, camptomelic dysplasia, atelosteogenesis, and mesomelic dysplasia. • Neuromuscular and Neurologic abnormalities: arthrogryposis multiplex congenita, myotonic dystrophy, spinal muscular atrophy, neural tube defects, holoprosencephaly, and hydranencephaly. ==Genetics==
Genetics
Clubfoot can be diagnosed prenatally as early as 13 weeks of gestation via ultrasound. According to the Society of Maternal-Fetal Medicine, a diagnostic testing for genetic causes is recommended when clubfoot is diagnosed prenatally. 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. Clubfoot can also be present in people with genetic conditions such as Loeys–Dietz syndrome and Ehlers–Danlos 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 of clubfoot. PITX1 and TBX4 are uniquely expressed in the hind limb. ==Diagnosis==
Diagnosis
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: 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. More testing and imaging is typically not needed, unless there is concern for other associated conditions. == Treatment ==
Treatment
Treatment is usually with some combination of the Ponseti method and French method. The Ponseti method involves a combination of casting, Achilles tendon release, and bracing. There are many commercial braces as well as a relatively inexpensive open-source hardware brace that can be made with a 3D printer. The Ponseti method is widely used and highly effective under the age of two. The French method involves realignment, taping, and long-term home exercises and night splinting. Another technique, the Kite method, does not appear to be as effective. The Ponseti method is highly effective with short-term success rates of 90%. 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. French method 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. 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, but, in some cases, surgery occurs over a period of time to completely correct the affected area. 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. 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. 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. Developing world 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. 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. ==Cultural references==
Cultural references
, Juho "Nätti-Jussi" Nätti (surname can be translated as 'pretty') (1890–1964) was known for his stories but also his untreated left clubfoot. A story tells that "not even the devil himself could tell which way Nätti has gone" from footprints of snow. • Hippolyte Tautain, the stableman at the Lion D'Or public house in the 1856 novel Madame Bovary by Gustave Flaubert, has clubfoot. Charles Bovary tries to correct it, but the procedure is unsuccessful, and Tautain must have an amputation. • Philip Carey, the main character of the 1915 novel Of Human Bondage by W. Somerset Maugham, has clubfoot. It is a central theme of the work. • Velma, a character in the 1941 film High Sierra, has clubfoot. It is successfully treated with surgery. • Gimpy, a coworker of the main character in the 1959 science fiction short story "Flowers for Algernon" by Daniel Keyes, has clubfoot. • Kashiwagi, a character in the 1956 novel The Temple of the Golden Pavilion by Yukio Mishima, has clubfoot. It parallels the main character, Mizoguchi, who has a stutter. • Johnson, a character in the 1965 short story "The Lame Shall Enter First" by Flannery O'Connor, has clubfoot. It is a major symbol in the story. • The main character of the 1974 science fiction novel The Bladerunner by Alan E. Nourse has clubfoot. • The main character of the 1985 novel Perfume: The Story of a Murderer by Patrick Süskind, has clubfoot. It causes a limp. • Senji, a character in the 1987 to 1991 fantasy book series The Mallorean by David Eddings, has clubfoot. • Kwai Geuk-Chat, a character in the 1993 film Once Upon a Time in China III, which is part of the 1991 to 1997 Once Upon a Time in China series, has clubfoot. He is nicknamed "Clubfoot Seven Chiu-Tsat" – "Clubfoot" because of his foot, and "Seven Chiu-Tsat" because he is the seventh member of the character Chiu Tin-bak's apprentices, disciples, and henchmen. • Mordred, King of Dumonia, a character in the 1995 to 1997 historical fantasy book series The Warlord Chronicles by Bernard Cornwell, has clubfoot. It is often used as a symbol for his weakness as a ruler. • The main character of the animated series, Waynehead (1996), based on creator Damon Wayan's childhood, had a large foot brace due to his club foot. • Charlie Wilcox, the main character of the 2000 children's book of the same name by Sharon McKay, has clubfoot. • Vulcan the blacksmith, a character in the 2001 novel The Secrets of Vesuvius, which is part of the 2001 to 2009 historical fiction series The Roman Mysteries by Caroline Lawrence, has clubfoot. • Ada, the main character of the 2016 children's book The War That Saved My Life by Kimberly Brubaker Bradley, has clubfoot. Her mother emotionally and physically abuses her because of it. • Larys Strong, called "the Clubfoot", first appears in George R. R. Martin's 2013 fantasy novella The Princess and the Queen, part of A Song of Ice and Fire. He is the secretive and sly master of whisperers for King Viserys I Targaryen and his successor Aegon II Targaryen. Larys's character was later expanded on in the novel Fire & Blood (2018) and its television adaptation House of the Dragon (2022). • In the 2024 series The Penguin, Oswald Cobb, the main character, has a club foot that causes him to walk with a limp. == References ==
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