Clubfoot is the common name for a congenital deformity of the foot and is medically referred to as congenital talipes equinovarus. In this condition, usually, the foot appears twisted or bent out of shape. Typically, the foot is turned inward and downward, in which case often a child may not be able to put the soles of the feet flat on the ground. Clubfoot is usually quite variable in its seriousness, but if not correctly treated, it may result in lifetime disability and mobility problems.
While the general appearance of clubfoot is well known, the root cause is not as simple to understand. Its development is multifactorial, including genetic and environmental influences, and sometimes unknown. This blog post looks at the major causes of clubfoot, its risk factors, and recent research into the origins of the condition.
Genetic Causes of Clubfoot
Genetics plays one of the major roles in causing clubfoot. It has been reported that children affected with clubfoot are more likely to have family members affected by the same sickness, which was believed to be due to a hereditary or inherited component of the disorder.
Inheritance Patterns
A family history of clubfoot affects the likelihood of a person having it. When one or both parents have had clubfoot, the chances of their offspring having this condition are higher. Research has shown that the condition follows an autosomal dominant inheritance pattern; if one parent is carrying the gene responsible for clubfoot, there is a higher chance their child may inherit the condition. However, the genetic link does not appear to be fully understood. While clubfoot can run in families, not every case results from direct genetic inheritance. Some of them also do not have any family history of the same disorder and still manage to be born with it.
Gene Mutations
Recent studies identified some candidate gene mutations involved in the development of clubfoot. There are at least two genes known to possibly play a role in the malformation of the feet and legs during fetal development: PITX1 and TBX4. These genes have an important role in the regulation of the development of limbs, and thus, mutations in these genes may further cause the abnormal positioning of feet characteristic of clubfoot.
It should, however, be noted that not all clubfoot cases result purely from genetic mutation. In most of the incidences, genetic predisposition coupled with an environmental factor seems to be the cause of the condition.
Environmental Causes of Clubfoot
Apart from the genetic cause, there are environmental factors that also contribute to the development of clubfoot, either in collaboration with the genetic factor or alone.
Intrauterine Positioning
Some say that clubfoot is due to the baby’s position inside the womb; when the fetus is lying in a particular position whereby his movement is limited or there is pressure on his legs and feet, this might force his foot to twist or become deformed. It is said that this is particularly the case in instances where there is low amniotic fluid, restricting free space for the baby to move and grow.
Maternal Smoking and Substance Use It has been documented that maternal smoking during pregnancy is associated with the risk of clubfoot. The possible explanation is that smoking may interfere with intrauterine development due to impaired oxygen supply to the developing fetus; thus, it increases the risk for certain congenital anomalies, such as clubfoot.
Apart from smoking, some other substances like alcohol and certain medicines are also believed to be the contributing factors that increase the risk of congenital deformities like clubfoot. Some research has also documented that mothers receiving specific types of recreational drugs or medication during their pregnancy are at a greater risk of giving birth to such children.
Nutritional Deficiencies
Nutritional deficiencies at the time of pregnancy can be attributed to clubfoot deformity; more specifically, a deficiency of folic acid and other nutrients highly required in the growth of the fetus may have a potential increased risk of birth defects in general, including clubfoot deformity. Proper nutrition and prenatal care help prevent this, but it is by no means certain.
Clubfoot Neuromuscular Causes
Sometimes clubfoot is associated with severe neuromuscular disorders that affect the nerves and muscles. The underlying neuromuscular disorders may involve abnormal tone or weakness of the muscles which may lead to deformities such as clubfoot.
Spina Bifida
Spina bifida is a congenital defect of the spinal cord. This may result in a wide variety of physical disabilities, including clubfoot. In children with spina bifida, there might be imperfect function of the muscles below the legs and the feet, which may be positioned abnormally and develop into clubfoot.
Cerebral Palsy
Cerebral palsy is a disease of the central nervous system that creates impairment of motor or postural tone. Abnormal muscle contractions and loss of muscle control in children with cerebral palsy may increase their risk of developing clubfoot.
Arthrogryposis
Another condition of the joints and muscles is Arthrogryposis. It causes stiffening of the joints, which leads to joint contractures. Children experiencing this birth condition may develop clubfoot because the muscles of the feet and legs are tight and movement is restricted.
Abnormal Development
In addition to genetic and neuromuscular causes, some clubfoot is thought to be a developmental malformation that occurs during fetal development. These abnormalities may disturb the normal development of the bones, muscles, and tissues in the feet and legs, causing the characteristic deformity.
Abnormal Tissue Development
During fetal development, bones and tissues in the feet may not form correctly resulting in an abnormally positioned foot. This could be because of a fault in the shape of the tendons, ligaments, or bones where the foot might twist inwards or downwards.
Poor Blood Supply to the Feet
Another theory proposes that clubfoot is caused by the temporary blood supply reduction to the foot at any period of the critical foot development period. If the blood vessels supplying the foot malfunction or become compressed, the foot cannot develop properly and deformities may arise.
Idiopathic Causes of Clubfoot
Although there have been numerous medical researches, in most of the cases, the exact cause of clubfoot is still unidentified. They are called idiopathic clubfoot. In such cases, no specific genetic or environmental cause might be traced, though some combined effects cannot be completely ruled out.
Possible Combination of Factors
Idiopathic varieties of clubfoot may also be related to an interaction of subtle genetic causes, environmental influences, and dysmorphic development. However, it is challenging to pinpoint the specific causative agent involved in each case because fetal development is an intricate process.
Risk Factors of Clubfoot
There are several risk factors for clubfoot in a child. Some of these include:
Family History: A history of clubfoot is a predisposition to the continuance of this condition into the future.
Sex of the Child: More males have clubfoot compared to females, though the exact reason behind such a sex predilection is not known.
Maternal Smoking: The maternal history of smoking during pregnancy has been implicated as explained above.
Low levels of Amniotic Fluid: Medical conditions that involve low levels of amniotic fluid, such as oligohydramnios, reduce the volume inside the uterus and restrict the movement of the baby, leading to increased chances for clubfoot.
Pre-term Birth: Premature babies have a higher chance of developing various issues since their growth inside the womb is incomplete. And that includes clubfoot.
Conclusion
Clubfoot is a complicated condition because of the wide genetic, environmental, neuromuscular, and developmental factors. In many cases, the actual cause of clubfoot might not be observed. But it helps to give an early diagnosis by having a list of risk factors that help in offering early treatment. Through modern medical treatment, such as the Poinsettia method, it is possible in most instances to correct clubfoot and allow children with deformities to have typical, active lives.
All this effort put into finding the root causes of clubfoot will indeed devise better treatment methods, but most importantly, our future generations will not suffer from this condition. Hopefully, we’ll delve even deeper into how and why it develops, with even more effective interventions promised as research continues.