Materiały źródłowe

• #1 Update on Clubfoot: Etiology and Treatment

  https://pmc.ncbi.nlm.nih.gov/articles/PMC2664438/

  Although clubfoot is one of the most common congenital abnormalities affecting the lower limb, it remains a challenge not only to understand its genetic origins but also to provide effective long-term treatment. […] The first aim of this review is to provide the readers with an overview of what is known regarding the etiology of clubfoot. […] Clubfoot deformity may be associated with myelodysplasia, arthrogryposis, or multiple congenital abnormalities, but is most commonly an isolated birth defect and considered idiopathic. […] Many theories have been proposed to explain the etiology of idiopathic clubfoot including vascular deficiencies, environmental factors, in utero positioning, abnormal muscle insertions, and genetic factors. […] While it is becoming more clear that clubfoot is multifactorial in origin, genetic factors clearly play a role as suggested by the 33% concordance of identical twins and the fact that nearly 25% of all cases are familial.

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  https://www.orthobullets.com/pediatrics/4062/clubfoot-congenital-talipes-equinovarus

  Clubfoot, also known as congenital talipes equinovarus, is a common idiopathic deformity of the foot that presents in neonates. […] Muscle contractures contribute to the characteristic deformity that includes (CAVE) Cavus (tight intrinsics, FHL, FDL), Adductus of forefoot (tight tibialis posterior), Varus (tight tendoachilles, tibialis posterior, tibialis anterior), Equinus (tight tendoachilles). […] Genetic component is strongly suggested. […] Unaffected parents with affected child have 2.5% – 6.5% chance of having another child with a clubfoot. […] Familial occurrence in 25%. […] Recent link to PITX1, transcription factor critical for limb development. […] Common genetic pathway may exist with congenital vertical talus.

• #1 Clubfoot (Talipes): Practice Essentials, Anatomy, Pathophysiology

  https://emedicine.medscape.com/article/1237077-overview

  The true etiology of congenital clubfoot is unknown. Most infants who have clubfoot have no identifiable genetic, syndromal, or extrinsic cause. […] Extrinsic associations include teratogenic agents (eg, sodium aminopterin), oligohydramnios, and congenital constriction rings. Genetic associations include mendelian inheritance (eg, diastrophic dwarfism, autosomal recessive pattern of clubfoot inheritance). […] Cytogenetic abnormalities (eg, congenital talipes equinovarus [CTEV]) can be seen in syndromes involving chromosomal deletion. It has been proposed that idiopathic CTEV in otherwise healthy infants is the result of a multifactorial system of inheritance. […] Evidence for this is as follows: Incidence in the general population is 1 per 1000 live births; Incidence in first-degree relations is approximately 2%; Incidence in second-degree relations is approximately 0.6%; If one monozygotic twin has CTEV, the second twin has only a 32% chance of having CTEV. […] A study by Weymouth et al found that associated promoter variants in HOXA9, TPM1, and TPM2 alter promoter expression, which suggested that they may have a functional role in gene regulation in clubfoot.

• #1 Club foot

  https://www.nhs.uk/conditions/club-foot/

  Club foot happens because the Achilles tendon (the large tendon at the back of the ankle) is too short. […] In most cases the cause of club foot is not known. There may be a genetic link, as it can run in families. […] If you have a child with a club foot or feet, your chance of having a 2nd child with the condition is about 1 in 35. […] If 1 parent has a club foot, there’s about a 1 in 30 chance of your baby having it. […] If both parents have the condition, this increases to about a 1 in 3 chance. […] In rare cases, club foot is linked to more serious conditions, such as spina bifida.

• #1 The etiology of idiopathic congenital talipes equinovarus: a systematic review | Journal of Orthopaedic Surgery and Research | Full Text

  https://josr-online.biomedcentral.com/articles/10.1186/s13018-018-0913-z

  The homeobox genes represent a family of transcription factors that play a central role in the morphogenesis processes of embryonic development. […] A CASP10 gene variant was found in simplex ICTEV in white and Hispanic trios. […] The collagen family genes were also linked to ICTEV. […] The GLI3 gene encodes for a C2H2-type zinc finger protein of the GLI family. […] The T-box family comprises transcription factors that play a crucial role in embryogenesis and morphogenesis. […] The PITX1-TBX4 pathway is responsible for early limb development. […] The troponin (Tn) family is a protein complex involved in striated muscle contraction and has three subunits: Tn-I, Tn-T, and Tn-C. […] The dysplasia sulfate transporter (DTDST) gene was suggested to cause ICTEV and investigated by Bonaf et al. […] The available literature on the etiology of ICTEV presents major limitations in terms of great heterogeneity and lack of high-profile studies.

• #1 Update on Clubfoot: Etiology and Treatment

  https://pmc.ncbi.nlm.nih.gov/articles/PMC2664438/

  A multifactorial and possibly polygenic causation has been suggested. […] Environmental factors may play a role in some cases of clubfoot. […] Environmental exposure to cigarette smoke in utero is another independent risk factor for clubfoot. […] The importance of genes involved in early limb development was recently shown by the identification of a rare mutation in the transcription factor PITX1 in a large family with idiopathic clubfoot. […] There is increasing evidence that clubfoot severity and treatment outcomes may vary by etiology.

• #1 The etiology of idiopathic congenital talipes equinovarus: a systematic review | Journal of Orthopaedic Surgery and Research | Full Text

  https://josr-online.biomedcentral.com/articles/10.1186/s13018-018-0913-z

  The available literature on the etiology of ICTEV presents major limitations in terms of great heterogeneity and a lack of high-profile studies. Although many studies focus on the genetic background of the disease, there is lack of consensus on one or multiple targets. Genetics and smoking seem to be strongly associated with ICTEV etiology, but more studies are needed to understand the complex and multifactorial genesis of this common congenital lower-limb disease. […] The etiology of CTEV is largely unknown. […] The role of environmental factors has been confirmed by several studies, all the proposed factors except for smoking were not significantly associated with ICTEV, which was linked to DNA oxidative damage caused by tobacco smoking. […] Genetics has a crucial role in the development of ICTEV, even though no major gene candidate has been identified.

• #1 Clubfoot – Wikipedia

  https://en.wikipedia.org/wiki/Clubfoot

  Causes Unknown. […] Both genetic and environmental factors are believed to be involved. […] The idiopathic congenital clubfoot is a multifactorial condition that includes environmental, vascular, positional, and genetic factors. […] 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. […] The underlying mechanism involves disruption of the muscles or connective tissue of the lower leg, leading to joint contracture. […] 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.

• #1 Clubfoot – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/clubfoot/symptoms-causes/syc-20350860

  Clubfoot describes a condition present at birth in which a baby’s foot is pointed in and down. The cause of clubfoot is not known, but it may be due to genetics and environmental factors. […] If a child has a parent, brother or sister with clubfoot, that child is more likely to have it too. […] Sometimes clubfoot may happen with other skeletal conditions that are present at birth. One example is spina bifida, a condition that happens when the spine and spinal cord don’t develop or close properly before birth. Certain conditions related to changes in chromosomes also may raise the risk of clubfoot. […] Smoking during pregnancy can raise the baby’s risk of clubfoot. […] Not having enough amniotic fluid may raise the risk of clubfoot.

• #1 Clubfoot: Causes and treatments

  https://www.medicalnewstoday.com/articles/183991

  Clubfoot is mainly idiopathic, which means that the cause is unknown. Genetic factors are believed to play a major role, and some specific gene changes have been associated with it, but this is not yet well understood. It appears to be passed down through families. […] It is not caused by the fetus position in the uterus. […] Sometimes it may be linked to skeletal abnormalities, such as spina bifida cystica, or a developmental hip condition known as hip dysplasia, or developmental dysplasia of the hip (DHH). […] It may be due to a disruption in a neuromuscular pathway, possibly in the brain, the spinal cord, a nerve, or a muscle. […] Environmental factors may play a role. Research has found a link between the incidence of clubfoot and maternal age, as well as whether the mother smokes cigarettes, and if she has diabetes. […] A link has also been noted between a higher chance of clubfoot and early amniocentesis, before 13 weeks of gestation during pregnancy.

• #1 Clubfoot (Talipes Equinovarus): Symptoms, Diagnosis and Treatment | Nationwide Children’s Hospital

  https://www.nationwidechildrens.org/conditions/clubfoot-talipes-equinovarus

  Most causes of clubfeet are unknown (idiopathic). The main point to remember is that the mother did nothing to cause this. However, there is a familial tendency noted (passed down from the biologic family) through genes. There are also many associated disorders or syndromes such as developmental hip dysplasia, spina bifida, arthrogryposis, or myotonic dystrophy. […] This foot abnormality can be multi-factorial in nature, meaning there could be several different pre-disposing factors. […] Extrinsic: This type is usually mild and supple. The cause can be due to intrauterine compression (large baby, abnormally shaped or small uterus, or abnormal intrauterine fluid levels). […] Intrinsic: This type is commonly more severe, rigid and the calf muscle is smaller. The foot may be smaller and there can be a bone deformity of the talus.

• #1 Clubfoot | March of Dimes

  https://www.marchofdimes.org/find-support/topics/planning-baby/clubfoot

  Clubfoot may be genetic. This means it can be passed from parents to children through genes. […] Clubfoot also may be caused by things in your environment. Your environment is all the things you come in contact with that affect your everyday life, including things like where you live, where you work, the kinds of foods you eat and how you like to spend your time. Some things in your environment can be harmful to a pregnancy, like certain drugs and cigarette smoke. […] Your baby may be at risk for clubfoot if: […] You have a family history of clubfoot. This means that you, your partner or someone in your families has clubfoot. […] You have oligohydramnios during pregnancy. This is when you dont have enough amniotic fluid. […] You have Zika infection during pregnancy. Zika is a virus thats associated with congenital Zika syndrome (also called CZS). CZS includes birth defects (like clubfoot) and other health and development problems. […] If you smoke during pregnancy, your babys chances of having clubfoot may be twice that of babies born to women who dont smoke.

• #1 Clubfoot: Symptoms & Causes | NewYork-Presbyterian

  https://www.nyp.org/orthopedics/columbia-orthopedics/clubfoot

  What causes clubfoot? The cause of clubfoot is uncertain, but doctors believe the condition is caused by a combination of genetic and environmental factors. […] An infant may have a higher risk of developing clubfoot if: The child is a boy, There is a family history of clubfoot, Other congenital conditions are present, such as spina bifida or trisomy 18 (Edward syndrome), The mother smoked, consumed alcohol, or used illegal drugs during pregnancy, There was not enough amniotic fluid during pregnancy.

• #1 Clubfoot Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/diseases-conditions/clubfoot

  Clubfoot is the most common congenital disorder of the legs. It can range from mild and flexible to severe and rigid. The cause is not known. Most often, it occurs by itself. But the condition may be passed down through families in some cases. Risk factors include a family history of the disorder and being male. Clubfoot can also occur as part of an underlying genetic syndrome, such as trisomy 18. […] A related problem, called positional clubfoot, is not true clubfoot. It results from a normal foot positioned abnormally while the baby is in the womb. This problem is easily corrected after birth.

• #1 Clubfoot pathology in fetus and pathogenesis. A new pathogenetic theory based on pathology, imaging findings and biomechanics—a narrative review

  https://atm.amegroups.org/article/view/66832/html

  Several studies have described the pathology of idiopathic congenital clubfoot (ICCF) in fetus. […] Numerous pathogenetic theories have been postulated on ICCF, but many of them lack any objective evidence. […] Pathologic studies in fetus together with MRI studies in patients with ICCF seem to favor the theory of a muscular imbalance of the foot activators during fetal growth as the main pathogenetic factor of ICCF. […] The authors postulate that a defect of both the radial and the longitudinal growth unevenly affecting the leg muscles with a consequent imbalance of the foot activators might be the main pathogenetic factor of ICCF. […] The etiopathogenesis of idiopathic congenital clubfoot (ICCF) is still unknown 2,500 years after its first description by Hippocrates. […] On the contrary, several pathogenetic theories have been proposed, but many of them are pure conjectures without any anatomical support.

• #1 Clubfoot: Etiology and treatment

  https://pmc.ncbi.nlm.nih.gov/articles/PMC2759597/

  Clubfoot is one of the most common congenital orthopedic anomalies and was described by Hippocrates in the year 400 BC. However, it still continues to challenge the skills of the pediatric orthopedic surgeon as it has a notorious tendency to relapse, irrespective of whether the foot is treated by conservative or operative means. […] The causes of the non-idiopathic type include deformity occurring in genetic syndromes, teratologic anomalies, neurological disorders of known (e.g., spina bifida) and unknown etiology and myopathies. […] Numerous etiologies have been proposed, discarded, rediscovered by the next generation and represented. Many theories are in vogue because no single theory adequately explains the erratic response of the clubfoot to treatment. One of the first ones, described by Hippocrates, was the mechanical theory, which postulates that clubfoot results from an elevated intrauterine pressure during pregnancy.

• #1 Clubfoot pathology in fetus and pathogenesis. A new pathogenetic theory based on pathology, imaging findings and biomechanics—a narrative review

  https://atm.amegroups.org/article/view/66832/html

  The theory of a neuromuscular defect causing imbalance of extrinsic foot muscles with consequent ICCF deformity was proposed by Dittrich. […] However, more recent studies carried out on a large number of ICCF specimens from the same leg compartment found a normal type I to type II fibers ratio. […] An arrest of the embryologic foot development was first proposed by Hueter and Von Volkmann and later supported by Bhm. […] Some authors have proposed that there is a blastemal defect in the development of the tarsal cartilaginous anlagen, causing the anatomic alterations of their shape described in the pathologic studies. […] A theory of retracting fibrosis involving the soft tissues of the posteromedial aspect of the leg and foot has been supported by the histologic observation of increased fibrous tissue within the ligaments, fasciae muscles and tendon sheaths.

• #1 Clubfoot pathology in fetus and pathogenesis. A new pathogenetic theory based on pathology, imaging findings and biomechanics—a narrative review

  https://atm.amegroups.org/article/view/66832/html

  Dietz postulated the theory of a regional growth disorder, supported by two clinical observations. […] The growth disturbance mainly affects the posteromedial side of the leg and foot because both muscles and bones of that region weighed less than those of the antero-lateral side in comparison to normal in a 27-week-old fetus dissected by the author. […] The theory of muscle imbalance caused by a non-neurologic etiologic factor that impaired muscle growth was first proposed by Bechtol and Mossman. […] They did not describe the gross pathology of the dissected muscles of the posteromedial compartment of the leg but, at the microscopic level, they found the presence of abnormal embryonic muscle fibers. […] The authors state: If the abnormal fibers were growing at a retarded rate, they could fail to keep pace with the growth of the skeletal structures, and this would result in their being under tension.

• #1 Clubfoot: Etiology and treatment

  https://pmc.ncbi.nlm.nih.gov/articles/PMC2759597/

  Studies by Palmer and Davies have shown that clubfoot is inherited as a polygenic multifactorial trait, which implies that genetic factors do play an important role, but the mode of inheritance is not clear. […] The consensus theory, which incorporates all of the above mentioned theories, probably best explains the occurrence of clubfoot.

• #1 Clubfoot | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/clubfoot

  Clubfoot is a congenital foot deformity that affects a child’s bones, muscles, tendons, and blood vessels. […] Most clubfeet are “idiopathic,” meaning that doctors don’t know for sure what causes them. Clubfoot probably has a genetic component and runs in families. But researchers don’t yet know what gene (or set of genes) is responsible. […] In some cases, clubfoot is part of a syndrome or birth defect. In other cases, the foot was in an awkward position in the mother’s womb. But most of the time, children are born with clubfoot for no known reason. […] There are two types of clubfoot, each with different causes. […] The most common type of clubfoot is idiopathic, which means the cause is unknown. […] Syndromic clubfoot occurs when the condition is part of a larger syndrome. This type is usually more severe and difficult to treat.

• #1 Clubfoot: Causes, Treatment, Complications | Baptist Health

  https://www.baptisthealth.com/care-services/conditions-treatments/clubfoot

  Idiopathic clubfoot is the most common type of clubfoot in babies. Doctors do not know the cause of this form of clubfoot. […] Neurogenic clubfoot is caused by a neurological condition, a condition that affects the nervous system (brain, spinal cord and nerves). […] Syndromic clubfoot is caused by an underlying nervous system disorder. Each of the three clubfoot causes require a specific treatment.

• #1 Prenatal diagnosis of talipes equinovarus (clubfoot) – UpToDate

  https://www.uptodate.com/contents/prenatal-diagnosis-of-talipes-equinovarus-clubfoot

  Clubfoot, or talipes equinovarus, refers to a complex developmental deformity of the foot/ankle in which one or both feet are excessively plantar flexed, with the forefoot swung medially and the sole facing inward. […] Clubfoot can be classified as idiopathic (congenital), syndromic, or positional: […] Idiopathic (congenital) clubfoot affects the bones, muscles, tendons, and blood vessels of one or both feet. […] Syndromic clubfoot refers to cases associated with additional anatomic anomalies and/or chromosomal or genetic abnormalities. […] Positional clubfoot results from the fetus’s position in the uterus and is often associated with a restrictive uterine environment (oligohydramnios, uterine anomalies).

• #1 Acquired Clubfoot – Slocum Center for Orthopedics & Sports Medicine

  https://slocumcenter.com/conditions/acquired-clubfoot/

  Acquired clubfoot develops later in life due to various factors such as trauma, nerve damage, or muscle imbalances. […] This condition can be painful and lead to difficulties with walking and mobility. […] Treatment options for acquired clubfoot typically involve a combination of nonsurgical methods such as physical therapy, orthotic devices, and medication to manage pain and inflammation. […] In severe cases or when conservative treatments fail to provide relief, surgical intervention may be necessary to correct the foots alignment.

• #1 Clubfoot, The Ponseti Method, and Treatment

  https://www.miraclefeet.org/about-clubfoot

  Clubfoot (or talipes equinovarus) is a birth defect that causes one or both feet to turn inward and down. The exact causes are unknown, but genetic factors may play a role. Clubfoot results from abnormal development of the muscles, tendons, and bones of the fetus. Shortened tendons and ligaments on the inside of the lower leg lead to the foot turning inward. A tight Achilles tendon contributes to the rigidity of the foot. […] There is a genetic link in about 25% of clubfoot cases. […] Prevalence is higher in babies of a parent with clubfoot and it occurs more often in boys than in girls.

• #1 Club Foot | Mississauga Foot Clinic

  https://www.mississaugafootclinic.com/foot-issues/club-foot

  Club foot occurs in males more often than females and usually affects only one leg. […] The most accepted cause of club foot is a defect in bone growth of the head and neck of the talus bone. […] There are many other theories of other causes of club foot which include: Chromosomal defect in the unfertilized germ cell, Embryonic defect occurs during first 12 weeks of development (after fertilization), Neurogenic defect in neurogenic tissue fiber leading to soft tissue imbalances, Myogenic defect in muscle tissue, Vascular absence or underdevelopment of foot arteries affecting growth.

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• #1 Club Foot | Cooper University Health Care

  https://www.cooperhealth.org/services/club-foot

  Clubfoot is considered a „multifactorial trait.” Multifactorial inheritance means there are many factors involved in causing a birth defect. The factors are usually both genetic and environmental. […] For example, clubfoot is twice as common in males as it is in females. […] Risk factors may include: Family history of clubfoot, Multiple gestations (twins or triplets), Position of the baby in the uterus, Increased occurrences in those children with neuromuscular disorders, such as cerebral palsy (CP) and spina bifida, Oligohydramnios (decreased amount of amniotic fluid surrounding the fetus in the uterus) during pregnancy.

• #1 Congenital talipes equinovarus | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/congenital-talipes-equinovarus?lang=us

  Congenital talipes equinovarus is considered the most common anomaly affecting the feet diagnosed on antenatal ultrasound. […] There may be a familial predilection in ~15% of cases. […] If detected antenatally, a careful search for other associated anomalies is recommended.

• #1 Clubfoot – OrthoPaedia

  https://www.orthopaedia.com/clubfoot/

  Talipes equinovarus, commonly known as “clubfoot,” is a congenital deformity of the foot. […] Clubfoot is often idiopathic and seen as an isolated birth defect, but it can also be caused by an underlying congenital disorder in approximately 20% of cases. […] There are many theories about the etiology of clubfoot, but the definitive cause is still unknown. […] Most cases are idiopathic but about 20% are due to a genetic or chromosomal abnormality. […] Honien et al (PMID: 11032161) found that family history of clubfoot is a major risk factor for developing clubfoot (OR = 6.52). […] Smoking exposure in utero is also associated with increased risk of clubfoot (OR = 1.34). […] This risk is dramatically increased in babies that already have a past family history of clubfoot (OR = 20.30).

• #1 Clubfoot: Types, Symptoms, Causes, Diagnosis & Treatment | Medanta

  https://www.medanta.org/pillar/clubfoot-types-symptoms-causes-diagnosis-treatment

  Maternal smoking during pregnancy has been identified as a potential environmental risk factor for clubfoot. […] Certain medications, particularly seizure medications, have been linked to an increased risk of clubfoot when taken during pregnancy. […] The following are some additional risk factors: […] If a parent or sibling has a history of clubfoot, the risk for the child is elevated. […] Clubfoot may be associated with other congenital disorders, such as spina bifida, further influencing its occurrence and management.

• #1 Club Foot – Causes, Symptoms, Treatment, Diagnosis – MedBroadcast.com

  https://medbroadcast.com/condition/getcondition/club-foot

  Congenital talipes equinovarus, commonly known as clubfoot, is a foot deformity in which the foot is twisted inward with the toes pointing down. […] There is an increased risk in families with a history of clubfeet, but the exact cause of clubfoot is not known. […] An abnormality of the tendons and ligaments in the foot causes an abnormal structure and position of the foot. […] There may be a link to maternal smoking during pregnancy. […] If the foot is abnormally positioned in the uterus during pregnancy, it may not grow into a normal shape, but this is not usually considered a „true” club foot. […] Club foot may, in rare instances, be associated with spinal deformities such as spina bifida or other neuromuscular diseases; however, in these cases, the foot is usually more deformed. […] Since the exact cause of club foot is not understood, there is no specific prevention.

• #1 Clubfoot: Symptoms, Causes, Risk Factors & Treatment

  https://resources.healthgrades.com/right-care/foot-health/clubfoot

  Clubfoot is a relatively common birth deformity of the baby’s Achilles tendon, a band of tissue on the back of the leg that connects the calf muscles to the heel. […] Doctors don’t know the cause of clubfoot, but research suggests it may be a combination of genetic and environmental factors. Most cases of clubfoot are idiopathic, meaning they have no known cause and appear in an otherwise healthy baby. […] The risk factors for clubfoot include: Male gender, Family history of clubfoot, such as a parent or sibling with the condition, Smoking during pregnancy, Using recreational drugs during pregnancy, Too little amniotic fluid surrounding the baby during pregnancy, which is oligohydramnios, Other skeletal birth defects. […] Since doctors aren’t sure what causes clubfoot, it’s important to minimize the risk factors you can control, including not smoking and not using drugs during pregnancy.

• #1 Current Concepts in the Etiology, Diagnosis, and Management of Relapsed Clubfoot

  https://www.jfasap.com/abstractArticleContentBrowse/JFASAP/24317/JPJ/fullText

  The ratio of correction improvement RCI (defined as initial Pirani score divided by the number of casts necessary to achieve the correction) value is an indicator of risk of recurrence. […] Young age at tibialis anterior tendon transfer (TATT) is a known risk factor for the development of recurrence. […] Underlying neurological conditions may be associated with the recurrence of the clubfoot. […] The relapse rate in clubfoot after the Ponseti method is from 18 to 48%.

• #1 Current Concepts in the Etiology, Diagnosis, and Management of Relapsed Clubfoot

  https://www.jfasap.com/abstractArticleContentBrowse/JFASAP/24317/JPJ/fullText

  Relapse is a recurrence of deformities in a previously corrected clubfoot. The etiology of relapse can be variable. Some of the predisposing factors that are predictive of relapse are drop toe signs, a lower ratio of correction improvement, and muscle imbalance. […] Children with a drop-toe sign have a high likelihood of relapse. The drop-toe sign involves, a resting position of the toes in plantarflexion along with no active toe extension in response to plantar stimulation of the foot. This finding was associated with the absent function of the anterior and lateral compartment muscles. […] Various factors have been attributed to the recurrence of the clubfoot. Recurrence could have multifactorial etiology. […] Some studies have proposed that a muscle imbalance may be a causative factor in the development of a relapsed deformity.

• #1

  https://journals.lww.com/clinorthop/fulltext/2009/05000/update_on_clubfoot__etiology_and_treatment.5.aspx

  Although clubfoot is one of the most common congenital abnormalities affecting the lower limb, it remains a challenge not only to understand its genetic origins but also to provide effective long-term treatment. […] Understanding the exact genetic etiology of clubfoot may eventually be helpful in determining both prognosis and the selection of appropriate treatment methods in individual patients.

• #1 Clubfoot – Wikipedia

  https://en.wikipedia.org/wiki/Clubfoot

  The most commonly associated conditions are distal arthrogryposis or myelomeningocele. […] The factors contributing to the development of clubfoot can be categorized as extrinsic and intrinsic factors. […] Factors that can influence the positioning of the fetal foot in utero include oligohydramnios, breech presentation, Mllerian 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. […] Mutations in genes involved in muscle development are risk factors for clubfoot, specifically those encoding the muscle contractile complex. […] Genetic mapping and the development of models of the disease have improved understanding of developmental processes.

• #1 Club Foot (includes Talipes Equinovarus) – MN Dept. of Health

  https://www.health.state.mn.us/diseases/cy/clubfoot.html

  Club foot is a relatively common condition that occurs in 1-3 out of 1000 live births. […] Isolated clubfoot can run in families, although much about the underlying genetic elements are not understood. Smoking during pregnancy has also been suggested as a risk factor. Research to better understand the underlying causes of clubfoot is ongoing. […] Learning more about the underlying causes may provide ways to prevent clubfoot from occurring or recurring (happening again) in families and may lead to even better treatment.

• #1 Clubfoot – OrthoInfo – American Academy of Orthopaedic Surgeons

  https://orthoinfo.aaos.org/en/diseases–conditions/clubfoot/

  Clubfoot is a deformity in which an infant’s foot is turned inward, often so severely that the bottom of the foot faces sideways or even upward. […] Researchers are still uncertain about the cause of clubfoot. The most widely accepted theory is that clubfoot is caused by a combination of genetic and environmental factors. What is known, however, is that there is an increased risk in families with a history of clubfeet.

• #2 The etiology of idiopathic congenital talipes equinovarus: a systematic review | Journal of Orthopaedic Surgery and Research | Full Text

  https://josr-online.biomedcentral.com/articles/10.1186/s13018-018-0913-z

  Also known as clubfoot, idiopathic congenital talipes equinovarus (ICTEV) is the most common pediatric deformity and occurs in 1 in every 1000 live births. Even though it has been widely researched, the etiology of ICTEV remains poorly understood and is often described as being based on a multifactorial genesis. Genetic and environmental factors seem to have a major role in the development of this disease. […] ICTEV etiology is still controversial. Several hypotheses have been researched, but none of them are decisive. Emerging evidence suggests a role of several pathways and gene families associated with limb development (HOX family; PITX1-TBX4), the apoptotic pathway (caspases), and muscle contractile protein (troponin and tropomyosin), but a major candidate gene has still not been identified. Strong recent evidence emerging from twin studies confirmed major roles of genetics and the environment in the disease pathogenesis.

• #2 Update on Clubfoot: Etiology and Treatment

  https://pmc.ncbi.nlm.nih.gov/articles/PMC2664438/

  Although clubfoot is one of the most common congenital abnormalities affecting the lower limb, it remains a challenge not only to understand its genetic origins but also to provide effective long-term treatment. […] The first aim of this review is to provide the readers with an overview of what is known regarding the etiology of clubfoot. […] Clubfoot deformity may be associated with myelodysplasia, arthrogryposis, or multiple congenital abnormalities, but is most commonly an isolated birth defect and considered idiopathic. […] Many theories have been proposed to explain the etiology of idiopathic clubfoot including vascular deficiencies, environmental factors, in utero positioning, abnormal muscle insertions, and genetic factors. […] While it is becoming more clear that clubfoot is multifactorial in origin, genetic factors clearly play a role as suggested by the 33% concordance of identical twins and the fact that nearly 25% of all cases are familial.

• #2 Club Foot | PM&R KnowledgeNow

  https://now.aapmr.org/club-foot/

  The etiology of clubfoot is unknown but is likely multifactorial, with strong genetic factors along with poorly understood environmental factors. In support of a genetic cause, results from twin studies showed concordance in monozygotic twins of 32% compared to dizygotic twins of 2.9%, as well as a familial recurrence of 10-20%. […] Smoking during pregnancy has been shown to be a significant and consistent environmental risk factor. […] Familial occurrence is well documented in clubfoot, prompting investigation into the genetic basis for non-syndromic clubfoot. While several genetic variants have been shown to be associated with clubfoot, the mechanisms by which these genes confer risk is an area of ongoing research.

• #2

  https://www.orthobullets.com/pediatrics/4062/clubfoot-congenital-talipes-equinovarus

  Clubfoot, also known as congenital talipes equinovarus, is a common idiopathic deformity of the foot that presents in neonates. […] Muscle contractures contribute to the characteristic deformity that includes (CAVE) Cavus (tight intrinsics, FHL, FDL), Adductus of forefoot (tight tibialis posterior), Varus (tight tendoachilles, tibialis posterior, tibialis anterior), Equinus (tight tendoachilles). […] Genetic component is strongly suggested. […] Unaffected parents with affected child have 2.5% – 6.5% chance of having another child with a clubfoot. […] Familial occurrence in 25%. […] Recent link to PITX1, transcription factor critical for limb development. […] Common genetic pathway may exist with congenital vertical talus.

• #2 Clubfoot Treatment Options | HSS Lerner Children’s Pavilion

  https://www.hss.edu/condition-list_clubfoot.asp

  The exact causes of clubfoot are unknown. It is known that a mutation in the PITX1 gene, which helps construct a protein essential for lower limb development, is associated with clubfoot. […] Genetics play a role in club foot. The work of Ruth Wynne-Davies demonstrated that the occurrence rate of clubfoot was 17 times higher for first degree relatives and six times higher in second degree relatives. We also know that there is a mutation in the PITX1 gene on chromosome five which impacts lower limb development.

• #2 Clubfoot: Etiology and treatment

  https://pmc.ncbi.nlm.nih.gov/articles/PMC2759597/

  Studies by Palmer and Davies have shown that clubfoot is inherited as a polygenic multifactorial trait, which implies that genetic factors do play an important role, but the mode of inheritance is not clear. […] The consensus theory, which incorporates all of the above mentioned theories, probably best explains the occurrence of clubfoot.

• #2 The etiology of idiopathic congenital talipes equinovarus: a systematic review | Journal of Orthopaedic Surgery and Research | Full Text

  https://josr-online.biomedcentral.com/articles/10.1186/s13018-018-0913-z

  The available literature on the etiology of ICTEV presents major limitations in terms of great heterogeneity and a lack of high-profile studies. Although many studies focus on the genetic background of the disease, there is lack of consensus on one or multiple targets. Genetics and smoking seem to be strongly associated with ICTEV etiology, but more studies are needed to understand the complex and multifactorial genesis of this common congenital lower-limb disease. […] The etiology of CTEV is largely unknown. […] The role of environmental factors has been confirmed by several studies, all the proposed factors except for smoking were not significantly associated with ICTEV, which was linked to DNA oxidative damage caused by tobacco smoking. […] Genetics has a crucial role in the development of ICTEV, even though no major gene candidate has been identified.

• #2 Clubfoot: Symptoms & Causes | NewYork-Presbyterian

  https://www.nyp.org/orthopedics/columbia-orthopedics/clubfoot

  What causes clubfoot? The cause of clubfoot is uncertain, but doctors believe the condition is caused by a combination of genetic and environmental factors. […] An infant may have a higher risk of developing clubfoot if: The child is a boy, There is a family history of clubfoot, Other congenital conditions are present, such as spina bifida or trisomy 18 (Edward syndrome), The mother smoked, consumed alcohol, or used illegal drugs during pregnancy, There was not enough amniotic fluid during pregnancy.

• #2 Clubfoot: Symptoms, Causes, Risk Factors & Treatment

  https://resources.healthgrades.com/right-care/foot-health/clubfoot

  Clubfoot is a relatively common birth deformity of the baby’s Achilles tendon, a band of tissue on the back of the leg that connects the calf muscles to the heel. […] Doctors don’t know the cause of clubfoot, but research suggests it may be a combination of genetic and environmental factors. Most cases of clubfoot are idiopathic, meaning they have no known cause and appear in an otherwise healthy baby. […] The risk factors for clubfoot include: Male gender, Family history of clubfoot, such as a parent or sibling with the condition, Smoking during pregnancy, Using recreational drugs during pregnancy, Too little amniotic fluid surrounding the baby during pregnancy, which is oligohydramnios, Other skeletal birth defects. […] Since doctors aren’t sure what causes clubfoot, it’s important to minimize the risk factors you can control, including not smoking and not using drugs during pregnancy.

• #2 Club Foot – Causes, Symptoms, Treatment, Diagnosis – MedBroadcast.com

  https://medbroadcast.com/condition/getcondition/club-foot

  Congenital talipes equinovarus, commonly known as clubfoot, is a foot deformity in which the foot is twisted inward with the toes pointing down. […] There is an increased risk in families with a history of clubfeet, but the exact cause of clubfoot is not known. […] An abnormality of the tendons and ligaments in the foot causes an abnormal structure and position of the foot. […] There may be a link to maternal smoking during pregnancy. […] If the foot is abnormally positioned in the uterus during pregnancy, it may not grow into a normal shape, but this is not usually considered a „true” club foot. […] Club foot may, in rare instances, be associated with spinal deformities such as spina bifida or other neuromuscular diseases; however, in these cases, the foot is usually more deformed. […] Since the exact cause of club foot is not understood, there is no specific prevention.

• #2 Clubfoot in children: An overview | The Foot and Ankle Online Journal

  http://faoj.org/2020/12/31/clubfoot-in-children-an-overview/

  Many theories have been proposed to explain causes of idiopathic type of clubfoot occurring in normal newborns. One of these theories is the mechanical one laid by Hippocrates which assumes that clubfoot might be caused by an increased intrauterine pressure during pregnancy. This theory is disputed because of absence of association of clubfoot with most cases of overcrowded uterus such as cases of twins, large babies or polyhydramnios. […] Smoking of mothers at pregnancy might be a cause of increased risk of clubfoot. Another cause might be presence of an aberrant muscle, noticed at surgery to be inserted into the deep fascia of foot opposite the medial side of calcaneus. Zimny, et al., found abnormal contracted plantar fascia with fibroblastic contracture similar to that found in Dupuytren’s disease.

• #2 Clubfoot pathology in fetus and pathogenesis. A new pathogenetic theory based on pathology, imaging findings and biomechanics—a narrative review

  https://atm.amegroups.org/article/view/66832/html

  The theory of a neuromuscular defect causing imbalance of extrinsic foot muscles with consequent ICCF deformity was proposed by Dittrich. […] However, more recent studies carried out on a large number of ICCF specimens from the same leg compartment found a normal type I to type II fibers ratio. […] An arrest of the embryologic foot development was first proposed by Hueter and Von Volkmann and later supported by Bhm. […] Some authors have proposed that there is a blastemal defect in the development of the tarsal cartilaginous anlagen, causing the anatomic alterations of their shape described in the pathologic studies. […] A theory of retracting fibrosis involving the soft tissues of the posteromedial aspect of the leg and foot has been supported by the histologic observation of increased fibrous tissue within the ligaments, fasciae muscles and tendon sheaths.

• #2 Clubfoot in children: An overview | The Foot and Ankle Online Journal

  http://faoj.org/2020/12/31/clubfoot-in-children-an-overview/

  There are some findings supporting the genetic factor in etiology of clubfoot. These observations include the increased incidence in cases of previous family history. Such history was found in about 25% of isolated cases of clubfoot. Moreover, there is a coincidence of clubfoot of monozygotic twins of about 33% compared with only 3% in dizygotic. It has been suggested that a variety of apoptotic genes are involved in cell death cascade and consequent shaping the defects in clubfoot. […] Another study attributed the idiopathic clubfoot to be due a disturbance in the germ cells causing arrest of the foot development at the 5-week stage of fetal life. At this period, called physiological clubfoot stage, the foot bones resemble the shape and position of clubfoot. Similarly, Victoria-Diaz and Victoria-Diaz, stated that the development of the human foot passes into three stages in-utero. In the first (the 15-mm embryo length) stage, the foot appears in the same line with the leg. In the second “embryonic” stage (30-mm embryo length), the lateral side of the leg elongates more in relation to the medial aspect causing the foot to assume the clubfoot position. By the third “fetal” stage (50-mm), the medial side of the leg and foot develops to correct the position assuming that seen normally in the newborn.

• #2 Current Concepts in the Etiology, Diagnosis, and Management of Relapsed Clubfoot

  https://www.jfasap.com/abstractArticleContentBrowse/JFASAP/24317/JPJ/fullText

  Relapse is a recurrence of deformities in a previously corrected clubfoot. The etiology of relapse can be variable. Some of the predisposing factors that are predictive of relapse are drop toe signs, a lower ratio of correction improvement, and muscle imbalance. […] Children with a drop-toe sign have a high likelihood of relapse. The drop-toe sign involves, a resting position of the toes in plantarflexion along with no active toe extension in response to plantar stimulation of the foot. This finding was associated with the absent function of the anterior and lateral compartment muscles. […] Various factors have been attributed to the recurrence of the clubfoot. Recurrence could have multifactorial etiology. […] Some studies have proposed that a muscle imbalance may be a causative factor in the development of a relapsed deformity.

• #2 Clubfoot: Causes, Treatment, Complications | Baptist Health

  https://www.baptisthealth.com/care-services/conditions-treatments/clubfoot

  Idiopathic clubfoot is the most common type of clubfoot in babies. Doctors do not know the cause of this form of clubfoot. […] Neurogenic clubfoot is caused by a neurological condition, a condition that affects the nervous system (brain, spinal cord and nerves). […] Syndromic clubfoot is caused by an underlying nervous system disorder. Each of the three clubfoot causes require a specific treatment.

• #2

  https://step2.medbullets.com/orthopedics/122012/talipes-equinovarus-club-foot

  Etiology […] idiopathic […] intrinsic causes […] e.g., fetal onset neurologic or muscular disease […] […] extrinsic causes […] e.g., uterine cavity abnormalities

• #2 Positional Talipes / Clubfoot – STEPS Charity

  https://www.stepsworldwide.org/conditions/positional-talipes-clubfoot/

  Positional Talipes is thought to be caused by the baby’s position in the womb and is known as a packaging disorder. […] The condition is not caused by developmental issues and will not affect a child learning to walk normally. […] The condition can also be known as Positional Talipes or Positional Clubfoot. […] It is important to rule out an underlying structural problem and this can be done by visiting a doctor or a paediatric physiotherapist.

• #2 Clubfoot in children: An overview | The Foot and Ankle Online Journal

  http://faoj.org/2020/12/31/clubfoot-in-children-an-overview/

  Clubfoot is classified into two main types; congenital and acquired. Acquired form isn’t inborn-error. It might be caused by associated diseases. These include vascular causes such as Volkmann Ischemic Paralysis and neurogenic diseases comprising poliomyelitis, meningitis, sciatic nerve damage. Congenital clubfoot could be subdivided according to their causes into idiopathic or non-idiopathic types. Idiopathic clubfoot is mostly an isolated birth defect. The causes of non-idiopathic clubfoot include teratologic anomalies, generalized syndromes (e.g. diastrophic syndrome) and neurological diseases of known defects (such as spina bifida). The cases of non-idiopathic clubfoot are commonly associated with the presence of other anomalies with poor response to management either conservative or operative treatment.

• #2 Clubfoot: Types, Symptoms, and Treatment

  https://www.webmd.com/a-to-z-guides/what-is-clubfoot

  Clubfoot happens because the tendons (bands of tissue that connect muscles to bones) and muscles in and around the foot are shorter than they should be. […] Doctors dont know what causes it, and theres no way to ensure that your baby wont be born with it. But some things make clubfoot more likely.

• #2 Clubfoot: Causes and treatments

  https://www.medicalnewstoday.com/articles/183991

  Clubfoot is mainly idiopathic, which means that the cause is unknown. Genetic factors are believed to play a major role, and some specific gene changes have been associated with it, but this is not yet well understood. It appears to be passed down through families. […] It is not caused by the fetus position in the uterus. […] Sometimes it may be linked to skeletal abnormalities, such as spina bifida cystica, or a developmental hip condition known as hip dysplasia, or developmental dysplasia of the hip (DHH). […] It may be due to a disruption in a neuromuscular pathway, possibly in the brain, the spinal cord, a nerve, or a muscle. […] Environmental factors may play a role. Research has found a link between the incidence of clubfoot and maternal age, as well as whether the mother smokes cigarettes, and if she has diabetes. […] A link has also been noted between a higher chance of clubfoot and early amniocentesis, before 13 weeks of gestation during pregnancy.

• #2

  https://www.shrinerschildrens.org/en/pediatric-care/clubfoot

  Talipes equinovarus (TEV) is the medical term for clubfoot, and our pediatric orthopedic physicians are specialists in this common, treatable condition. […] Though the causes of club feet are unknown (idiopathic), it is not believed to be „caused” by any actions during pregnancy. […] While many times not related, clubfoot can have a link to disorders or syndromes, such as developmental hip dysplasia, spina bifida or arthrogryposis.

• #2 Clubfoot – Wikipedia

  https://en.wikipedia.org/wiki/Clubfoot

  The most commonly associated conditions are distal arthrogryposis or myelomeningocele. […] The factors contributing to the development of clubfoot can be categorized as extrinsic and intrinsic factors. […] Factors that can influence the positioning of the fetal foot in utero include oligohydramnios, breech presentation, Mllerian 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. […] Mutations in genes involved in muscle development are risk factors for clubfoot, specifically those encoding the muscle contractile complex. […] Genetic mapping and the development of models of the disease have improved understanding of developmental processes.

• #2 Clubfoot: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/001228.htm

  Clubfoot is the most common congenital disorder of the legs. It can range from mild and flexible to severe and rigid. […] The cause is not known. Most often, it occurs by itself. But the condition may be passed down through families in some cases. Risk factors include a family history of the disorder and being male. Clubfoot can also occur as part of an underlying genetic syndrome, such as trisomy 18.

• #2 Clubfoot (for Parents) | Nemours KidsHealth

  https://kidshealth.org/en/parents/clubfoot.html

  Clubfoot is a common type of birth defect that affects muscles and bones in the feet. Instead of being straight, a clubfoot points down and turns in. This twisting causes the toes to point toward the opposite leg. A baby can be born with the defect in one or both feet. […] Doctors often don’t know what causes a baby’s clubfoot. It’s more common in boys, and can run in families. A baby with clubfoot usually has no other medical problems.

• #2 Clubfoot: Causes, Symptoms, and Diagnosis

  https://www.healthline.com/health/clubfoot

  Clubfoot is a birth defect that causes a childs foot to point inward instead of forward. […] The exact cause of clubfoot is unknown, but doctors agree that a family history of clubfoot increases the likelihood that a child will be born with the condition. […] Also, mothers who smoke and drink during pregnancy are more likely to give birth to a child with a clubfoot or clubfeet. […] Clubfoot may also occur as part of a congenital skeletal abnormality, such as spina bifida. […] Because the cause of clubfoot is unknown, there are no definite ways to prevent it from occurring. However, you can minimize the risk that your child will be born with a clubfoot by not smoking or drinking during your pregnancy.

• #2 Current Concepts in the Etiology, Diagnosis, and Management of Relapsed Clubfoot

  https://www.jfasap.com/abstractArticleContentBrowse/JFASAP/24317/JPJ/fullText

  The ratio of correction improvement RCI (defined as initial Pirani score divided by the number of casts necessary to achieve the correction) value is an indicator of risk of recurrence. […] Young age at tibialis anterior tendon transfer (TATT) is a known risk factor for the development of recurrence. […] Underlying neurological conditions may be associated with the recurrence of the clubfoot. […] The relapse rate in clubfoot after the Ponseti method is from 18 to 48%.

• #2 Clubfoot – Conditions We Treat – Pediatric Orthopaedics – Golisano Children’s Hospital – University of Rochester Medical Center

  https://www.urmc.rochester.edu/childrens-hospital/orthopaedics/conditions-we-treat/clubfoot

  Clubfoot is a deformity of the foot. Its when one or both feet are turned inward. […] A combination of things may lead to clubfoot. It is partly genetic. This means it tends to run in families. It may also be environmental. […] A child with a family history of clubfoot is more likely to develop it. […] Clubfoot causes the heel to point downward while the front half of the foot (forefoot) turns inward. The foot is often short and wide in appearance.

• #2

  https://journals.lww.com/clinorthop/fulltext/2009/05000/update_on_clubfoot__etiology_and_treatment.5.aspx

  Although clubfoot is one of the most common congenital abnormalities affecting the lower limb, it remains a challenge not only to understand its genetic origins but also to provide effective long-term treatment. […] Understanding the exact genetic etiology of clubfoot may eventually be helpful in determining both prognosis and the selection of appropriate treatment methods in individual patients.

• #3 Club Foot | PM&R KnowledgeNow

  https://now.aapmr.org/club-foot/

  The etiology of clubfoot is unknown but is likely multifactorial, with strong genetic factors along with poorly understood environmental factors. In support of a genetic cause, results from twin studies showed concordance in monozygotic twins of 32% compared to dizygotic twins of 2.9%, as well as a familial recurrence of 10-20%. […] Smoking during pregnancy has been shown to be a significant and consistent environmental risk factor. […] Familial occurrence is well documented in clubfoot, prompting investigation into the genetic basis for non-syndromic clubfoot. While several genetic variants have been shown to be associated with clubfoot, the mechanisms by which these genes confer risk is an area of ongoing research.

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