Materiały źródłowe

• #1 Clubfoot – Wikipedia

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

  The exact cause is usually not identified. […] Both genetic and environmental factors are believed to be involved. […] 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. […] 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 (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 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

  Genetics has a crucial role in the development of ICTEV, even though no major gene candidate has been identified. […] The homeobox genes represent a family of transcription factors that play a central role in the morphogenesis processes of embryonic development. […] The PITX1-TBX4 pathway is responsible for early limb development. Numerous studies report that mutations in the genes encoding the transcription factors PITX1 and TBX4 lead to a reduction in lower-limb musculature and classic clubfoot phenotypes in both humans and mice. […] The etiology of ICTEV remains unknown as stated in recent reviews. Many theories have been developed, but no one has clarified the major roles in the pathogenesis of idiopathic clubfoot. Recent studies have focused on the interaction between genetics and environmental factors, showing a multifactorial identity of the disease. Today, this remains the most validated theory.

• #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: Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/16889-clubfoot

  Clubfoot happens because of an issue with your childs tendons, the tissues that connect muscle to bone. The tendons in your babys leg and foot are shorter and tighter than they should be. That causes the foot to twist. About half of babies with clubfoot have an issue with both feet. […] Researchers dont know the exact cause of clubfoot. Its most likely a combination of genetics and environment: […] Genetics: Genes tell your childs body how to look, grow and function. A problem with one or more genes (which are passed down from parents to children) could result in clubfoot. […] Environment: Drug use and smoking during pregnancy may raise the risk of having a baby with a birth defect like clubfoot. […] A family history of clubfoot also puts your baby at a higher risk. […] A person may be at higher risk for having a baby with clubfoot if they: […] Had oligohydramnios during pregnancy. This is a problem of not having enough amniotic fluid, the fluid that surrounds the fetus. […] Had Zika infection during pregnancy, which can lead to birth defects and other issues. […] Smoked, drank alcohol or used recreational drugs during pregnancy.

• #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. […] ICTEV has historically been linked to several risk factors: oligohydramnios, smoking, parental age, parental education, parity, maternal anxiety or depression, alcohol use, and season of birth. […] Even though 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.

• #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 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 | Boston Children’s Hospital

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

  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. […] In all children with clubfeet, tightness of the muscles and tendons around the foot and ankle keep the foot in the characteristic downward and inward position. This tightness may be related to differences in blood circulation or how nerves receive signals in the affected legs. Other theories for the causes of clubfeet include defects in development of the bones, tendons, or muscles or some mechanical obstruction in utero. However, these theories have not yet been proven.

• #1 Clubfoot: Etiology and treatment

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

  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. This was disputed because of the absence of increased incidence in an overcrowded uterus (twinning, large babies, hydramnios and primiparous uterus). In the past, a neuromuscular etiology has been proposed based on the histochemical analysis of the clubfeet. They observed an increase in Type I:II muscle fiber ratio from 1:2 to 7:1, which suggests a possible neural basis. However, Irani observed no such abnormality. […]

• #1 What is Clubfoot? | Orthopedic Blog | OrthoCarolina

  https://www.orthocarolina.com/media/what-is-clubfoot

  The concern many parents have when their child is born is, „Did I do something wrong to cause this?” The answer is no. Clubfoot is not caused by anything you ate or drank during pregnancy. […] Most children have what is called idiopathic clubfeet, meaning we are unsure the exact cause. One theory as to what causes clubfoot is the arrest of fetal development theory, which suggests that all babies feet are held in a clubfoot position during the earlier stages of pregnancy. In some children, the feet simply do not turn out to the normal position. Other experts are of the opinion that either nerve or muscle problems in the lower leg cause the foot, or feet, to be turned in. […] It is important to realize that whatever causes clubfoot actually involves the whole lower leg. Most children with clubfeet have skinny calves. This is not caused by casting. […] The condition of clubfoot is not isolated to the foot but actually involves the whole leg.

• #1 Clubfoot: Etiology and treatment

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

  Several authors have advanced histological theories. Loren et al. have shown that abnormal peroneus brevis histology correlates with higher chances of relapse. A primary germ plasm defect was proposed by Irani. Defects in the cartilage have been reported by Shapiro and Glimcher. An increased collagen synthesis was found by Ionasescu. Ippolito and Ponseti have described the theory of retraction fibrosis of the distal muscles of the calf and supporting connective tissue. […] […] Additionally, anatomical abnormalities have been postulated to explain the occurrence of clubfoot. Ippolito demonstrated medial angulation of the neck and medial tilting and rotation of the body of talus. Hootnick and associates described hypoplasia of the anterior tibial artery in patients with clubfeet. Turco and Porter have shown anomalous muscles in about 15% of patients with clubfoot. […]

• #1 Clubfoot: Etiology and treatment

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

  An alternative theory of arrested fetal development, was proposed by Von Volkmann in 1863 and has subsequently been verified by other authors. According to this theory, the foot is normally in equinovarus and corrects to a pronated foot at birth. The development of the fetal foot is arrested because of an intrinsic error or an environmental insult, which retards the correction of the physiological position to the normal pronated foot and results in the clubfoot seen at birth. […] […] 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. A higher prevalence of clubfoot was found in children who were born between December and March than at other times of the year. Edwards et al. propose maternal hyperthermia as an adverse environmental factor in the sensitive period of intrauterine development. […] […] The consensus theory, which incorporates all of the above mentioned theories, probably best explains the occurrence of clubfoot.

• #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 Infant complications clubfoot | Children’s Wisconsin

  https://childrenswi.org/medical-care/fetal-concerns-center/conditions/infant-complications/clubfoot

  We do not know what causes clubfoot. We do know it is not related to anything the mother ate or did during pregnancy. […] This defect does seem to have an increased incidence in families with a history of clubfoot or other orthopedic problems. Family history could include a parent who had clubfoot at birth or a congenital hip dysplasia (which is the underdevelopment of the bones of the pelvis, especially the hip joints) or a blood relative with similar defects. […] Reported success rates with the Ponseti Method vary greatly. Doctors successfully correct approximately 50 to 90 percent of children with clubfeet without surgery. However, some babies have short, fat feet with stiff ligaments that will not yield to stretching and may require some type of surgery.

• #1 Etiology and Pathogenesis of Clubfoot and Vertical Talus | SpringerLink

  https://link.springer.com/chapter/10.1007/978-3-031-34788-7_1

  Clubfoot and vertical talus are closely related congenital lower limb malformations. While there is evidence that environmental factors and prenatal drug exposures may contribute to their pathogenesis, genetic factors appear to play a significant role. Morphological analysis of tissues from clubfoot patients using a variety of invasive and noninvasive modalities, including muscle biopsy and magnetic resonance imaging, show a spectrum of muscle, vasculature, and nerve abnormalities that provide evidence against a singular etiology for clubfoot. […] Consistent with this, genes involved in early limb development, including PITX1, TBX4, and HOX genes, have now been implicated in some cases of familial clubfoot and vertical talus. Individuals with genetic abnormalities in these transcriptional regulators of early limb development are more likely to have treatment resistant clubfoot and clinical exam abnormalities such as the drop-toe sign or weakness with eversion that are hallmarks of treatment resistance.

• #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 lack of high-profile studies. Although many studies have focused on the genetic background of the disease, there is a lack of consensus on one or multiple targets. Recent evidence shows a major role of both genetic and environmental factors. Thus far, smoking is the major environmental factor supported by recent evidence. The etiology of ICTEV is probably multifactorial and associated with multiple gene alterations, and large multi-center studies are required to investigate them.

• #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.

• #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 Clubfoot Causes & Treatment | Cardinal Glennon

  https://www.ssmhealth.com/cardinal-glennon/fetal-care-institute/fetal-conditions-we-treat/head-brain-and-skeletal-system/clubfoot

  Clubfoot develops prenatally and can be caused by both genetic and environmental factors. If a parent was born with clubfoot and has an affected child as well, the chance for future offspring to have clubfoot could be as high as 25%. When a couple has a child with clubfoot and neither of them were born with clubfoot, there is around a 3% of having another child with the same condition with each future pregnancy. […] Generally, when a baby has clubfoot, there was nothing the mother did to cause it nor anything she could have done to prevent it.

• #2 Etiology and Pathogenesis of Clubfoot and Vertical Talus | SpringerLink

  https://link.springer.com/chapter/10.1007/978-3-031-34788-7_1

  Clubfoot and vertical talus are closely related congenital lower limb malformations. While there is evidence that environmental factors and prenatal drug exposures may contribute to their pathogenesis, genetic factors appear to play a significant role. Morphological analysis of tissues from clubfoot patients using a variety of invasive and noninvasive modalities, including muscle biopsy and magnetic resonance imaging, show a spectrum of muscle, vasculature, and nerve abnormalities that provide evidence against a singular etiology for clubfoot. […] Consistent with this, genes involved in early limb development, including PITX1, TBX4, and HOX genes, have now been implicated in some cases of familial clubfoot and vertical talus. Individuals with genetic abnormalities in these transcriptional regulators of early limb development are more likely to have treatment resistant clubfoot and clinical exam abnormalities such as the drop-toe sign or weakness with eversion that are hallmarks of treatment resistance.

• #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. Risk factors include family history, parental tobacco use, maternal obesity, male sex, and early amniocentesis (before 15 weeks of gestation). […] 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. […] Congenital clubfoot, meaning that the condition exists at birth and/or during gestation, may be idiopathic (of unknown cause) or non-idiopathic, including as an acquired case resulting from a separate injury or condition, such as an infection or neurological problem.

• #2 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.

• #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. […] ICTEV has historically been linked to several risk factors: oligohydramnios, smoking, parental age, parental education, parity, maternal anxiety or depression, alcohol use, and season of birth. […] Even though 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.

• #2 Clubfoot | March of Dimes

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

  Clubfoot is a birth defect of the foot. […] We dont know for sure what causes 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 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.

• #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 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 Treatment Options | HSS Lerner Children’s Pavilion

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

  Most cases (80%) of clubfoot are idiopathic, meaning the cause is unknown. Usually, idiopathic clubfoot occurs in isolation and is the patients only skeletal abnormality. […] Though rarer, this type of clubfoot may be a characteristic of a genetic syndrome or neurological disorder which may affect other parts of the body. […] A clubfoot deformity may occur in an individual with compromised nerve connections or irregular blood vessels in the muscles in the lower extremity due to an injury or illness (such as meningitis, polio). This leads to an imbalance of muscle forces which result in a clubfoot deformity.

• #2 Clubfoot | Boston Children’s Hospital

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

  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. […] In all children with clubfeet, tightness of the muscles and tendons around the foot and ankle keep the foot in the characteristic downward and inward position. This tightness may be related to differences in blood circulation or how nerves receive signals in the affected legs. Other theories for the causes of clubfeet include defects in development of the bones, tendons, or muscles or some mechanical obstruction in utero. However, these theories have not yet been proven.

• #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 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.

• #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. […] Although many researchers have tried to clarify the pathogenesis of congenital clubfoot, the exact cause is still obscure. Most of cases (about 80%) occur in normal physical and mental children.

• #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 Clubfoot — Global Clubfoot Initiative

  https://globalclubfoot.com/clubfoot

  The causes of clubfoot are complex. Genetics play a role, and it is more common in babies who have a parent, grandparent, uncle, aunt, sibling or other relative with clubfoot. However, it is also often occurs in babies who have no family history of clubfoot. […] There are some common misconceptions around the causes of clubfoot one of the most common being that it is caused by the babys position in the womb this has been proven not to be the case as clubfoot can be seen on ante-natal ultrasound from very early on in the foetuss development, before their movements are restricted in the womb. […] Many cultures have traditional beliefs about the causes of clubfoot, such as that it is caused by a curse, or something that a family member did wrong. These can lead to significant stigma and exclusion of the child and their families within society.

• #2 Clubfoot in Children | Lurie Children’s

  https://www.luriechildrens.org/en/specialties-conditions/clubfoot/

  Clubfoot, also known as talipes equinovarus, is a congenital (present at birth) foot disorder in which the foot is curved toward the middle of the body, and the toes point downward. […] We dont know exactly what causes clubfoot, but it appears to be due to atypical muscles on the inside of the foot and lower leg which pull the foot in too tightly during fetal development. […] Clubfoot has a tendency to run in families. About one out of every four children born with clubfoot has a family history. There is nothing that parents can do to prevent clubfoot, so there is no reason to feel guilty if you have a child with this disorder. […] Clubfoot is highly correctable with the Ponseti Method, especially when braces are used properly and for the prescribed amount of time. […] We stress the importance of using the brace as prescribed since clubfoot recurrence can be more difficult to treat in older children.

• #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 lack of high-profile studies. Although many studies have focused on the genetic background of the disease, there is a lack of consensus on one or multiple targets. Recent evidence shows a major role of both genetic and environmental factors. Thus far, smoking is the major environmental factor supported by recent evidence. The etiology of ICTEV is probably multifactorial and associated with multiple gene alterations, and large multi-center studies are required to investigate them.

• #2 Etiology and Pathogenesis of Clubfoot and Vertical Talus | SpringerLink

  https://link.springer.com/chapter/10.1007/978-3-031-34788-7_1

  Unlike familial cases, most non-familial clubfoot and vertical talus cases are likely oligogenic or polygenic in origin and reflect complex inheritance patterns. Currently, routine genetic testing in patients with isolated clubfoot or vertical talus is likely to be low yield, even in familial cases. Further research is needed to identify additional pathophysiological mechanisms, particularly in regard to oligogenic combinations of rare genetic variants. […] Consideration of clinical exam findings and underlying morphological abnormalities, as well as the impact of gene variants when known, is essential for tailoring diagnostic and treatment plans to address the specific needs of individuals with clubfoot and vertical talus.

• #2

  https://link.springer.com/article/10.1007/s11999-009-0734-9

  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. […] Genetic and environmental factors in the etiology of talipes equinovarus.

• #3 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.

• #3 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.

• #3

  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. […] Diagnosis is made clinically with a resting equinovarus deformity of the foot. […] Etiology […] muscle contractures contribute to the characteristic deformity that includes (CAVE) […] 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.

• #3 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.

• #3 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.

• #3 Clubfoot — Global Clubfoot Initiative

  https://globalclubfoot.com/clubfoot

  The causes of clubfoot are complex. Genetics play a role, and it is more common in babies who have a parent, grandparent, uncle, aunt, sibling or other relative with clubfoot. However, it is also often occurs in babies who have no family history of clubfoot. […] There are some common misconceptions around the causes of clubfoot one of the most common being that it is caused by the babys position in the womb this has been proven not to be the case as clubfoot can be seen on ante-natal ultrasound from very early on in the foetuss development, before their movements are restricted in the womb. […] Many cultures have traditional beliefs about the causes of clubfoot, such as that it is caused by a curse, or something that a family member did wrong. These can lead to significant stigma and exclusion of the child and their families within society.

• #4 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.

• #4 Clubfoot Causes, Treatment & Prevention: A Complete Guide | Germanten Hospital

  https://www.germantenhospitals.com/clubfoot-causes-treatment-prevention-a-complete-guide/

  Clubfoot is a common birth defect in which a babys foot or feet twist inward at birth. […] The exact cause of clubfoot remains unclear. Experts believe that clubfoot results from a mix of genetic and environmental factors. […] Genes actively shape many aspects of a childs growth and development. Changes in one or more genes may cause clubfoot. When a parent or sibling has clubfoot, the baby faces a higher risk of developing the condition. […] Certain environmental factors may increase the risk of clubfoot, including: Exposure to tobacco smoke or the use of drugs during pregnancy can raise the risk of birth defects such as clubfoot. Oligohydramnios is a condition where there is not enough amniotic fluid surrounding the baby. It may relate to clubfoot. Infections like the Zika virus during pregnancy can also elevate the risk. […] Boys face about twice the risk of developing clubfoot compared to girls. In addition, babies with other birth defects, such as spina bifida or cerebral palsy have a higher chance of developing clubfoot.

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