Brachymetatarsia is a shortening of the metatarsal bone that is already congenital. It represents a form of brachyphalangia.
What is brachymetatarsia?
Brachymetatarsia is a deformity of the foot. In this case, the length growth of the metatarsal bone is stopped at an early stage. In most cases, the 1st and 4th metatarsal bones are affected by this process. As a result of this deformity, the fourth toe does not shift towards the tip of the foot as is usually the case during the growth process. As a result, the affected toe appears smaller than its neighboring toes. However, its size is usually completely normal. In Germany alone, approximately 25,000 to 27,000 German citizens suffer from brachymetatarsia. For many of those affected, this causes not only aesthetic problems, but also emotional and psychological effects. This rare anomaly occurs 26 times more frequently in women than in men. Brachymetatarsia is a form of brachyphalangia, although there is no shortening of a finger. Physicians classify the deformity as brachydactyly type E. A shortening of the metacarpal bone, on the other hand, is called brachymetacarpy. The first description of brachymetacarpy was made in 1951 by the British physician Julia Bell. For this purpose, she evaluated fifteen past case reports.
Causes
The exact causes of brachymetatarsia could not be determined until now. Usually, affected individuals have suffered from the deformity since birth. Numerous medical experts suspect an autosomal-dominant mode of inheritance. Sometimes, however, brachymetatarsia is also part of an existing syndrome and associated with other symptoms. This is especially true for generalized skeletal dysplasia, basal cell nevus syndrome, Albright osteodystrophy, and Turner syndrome. In the setting of Albright osteodystrophy, brachymetatarsia often marks the first sign of type 1A or 1B pseudohypoparathyroidism and has been present since birth. In contrast, other skeletal dysplasias do not become apparent until two to four years of age or even in adults.
Symptoms, complaints, and signs
In most cases, brachymetatarsia is noticeable on the first metatarsal. In this case, the big toe turns out much shorter and there is a disturbance of the normal foot roll over the ball of the big toe. This in turn results in increased stress on the second and third toes of the foot. Patients may suffer from pain in the forefoot because the transverse arch is affected by dysfunction. In about 40 percent of all people, however, the first metatarsal bone is generally slightly smaller than the second bone. However, we only speak of brachymetatarsia when there is a significant shortening. In principle, all other metatarsals can also be affected by brachymetatarsia. First and foremost, this includes the fourth metatarsal. Thus, the toe, which is not actually shortened, places itself in the upper direction on the neighboring toes, which can lead to pressure points. However, this is mostly not an orthopedic problem, but an aesthetic one. Also to be considered are the mental or psychological problems that are often caused by brachymetatarsia. For example, the foot deformity often has a negative effect on the self-confidence of those affected and they feel stigmatized. Since many patients also no longer perceive themselves as attractive, this sometimes results in sexual problems. In addition, many sufferers also do not dare to show their feet to their partner. Furthermore, public life is restricted, which has a negative effect on visits to the beach or swimming, for example.
Diagnosis
The diagnosis of brachymetatarsia is easily made. For example, the clear foot deformities clearly indicate the anomaly. Only rarely do the affected individuals also muster the courage to visit a doctor. However, they are often told there that there would be no treatment options for them, so they should resign themselves to their problem. Sometimes they are even advised to see a psychologist. In the meantime, however, there are modern and promising surgical methods with which brachymetatarsia can be corrected. Brachymetatarsia cannot be corrected on its own. In order to achieve this, a surgical intervention is required.If this correction is successful, the affected person regains a normal quality of life.
Complications
In many cases, brachymetatarsia is a purely aesthetic problem. However, if the deformity is severe, it can also cause severe pain, especially in the forefoot. As a result, the affected person is relatively restricted in his or her movements and everyday life. Even sporting activities cannot always be carried out. Due to the deformity, many patients’ self-esteem drops and they do not find themselves attractive. This leads especially to sexual problems and depression. Due to the shame about their own feet in brachymetatarsia, patients also avoid public experiences where feet are shown. This includes especially visits to the beach or swimming pool. Treatment of brachymetatarsia is possible without complications. However, this requires surgical procedures to lengthen the bone on the foot. The interventions can either lower the load on the foot or be purely cosmetic. Since the body is still growing in the young years, the operations are performed after the age of 16. After the surgery, there is no further discomfort or problems.
When should you go to the doctor?
Since brachymetatarsia is a congenital disease, it is not necessary to visit a doctor additionally for diagnosis of this disease. As a rule, the visit to the doctor should take place when the disease causes restrictions in the patient’s daily life or movement. Especially in children, this can disrupt or delay development, so treatment by a doctor can prevent possible complications in adulthood. An examination and treatment by a doctor should also be carried out if the brachymetatarsia causes psychological complaints and restrictions. In this case, children or adolescents in particular can suffer from severe psychological complaints or even depression. If these complaints occur, a cosmetic and psychological treatment must take place.The diagnosis can be made by a general practitioner. The treatment of this complaint is then carried out by a respective specialist or by a surgical intervention in a hospital.
Treatment and therapy
From a medical point of view, the surgical treatment of brachymetatarsia on the first metatarsal is usually intended to counteract overloading of the smaller neighboring toes. Surgery on the second to fifth metatarsal, on the other hand, is performed for cosmetic reasons. However, it is important to wait for the end of the growth process before performing a surgical intervention. Thus, surgery should not take place before the age of 16. One of the proven surgical procedures for treating brachymetatarsia is one-stage lengthening of the metatarsal bone. In this procedure, a graft consisting of the patient’s own bone or synthetic bone is implanted. Another method is callus distraction, in which either an internal or external fixator is used. This procedure allows the excessively short metatarsal to be lengthened step by step over a period of several months. The fixator is not removed until the bone has sufficient stability. If the shortening is minor, a corrective osteotomy is also possible. In this case, the surgeon cuts through the metatarsal bone on its long side and distracts it. He then fixes the bone with a small osteosynthesis.
Outlook and prognosis
There is no prospect of recovery or relief without medical treatment. The bone structure is shortened for genetic reasons and will remain in its modified form until the end of life without surgical intervention. According to the current state of scientific knowledge, the administration of medications or the implementation of special training are also unsuccessful, since the genetics of the human being cannot and must not be influenced. On the other hand, surgery on the foot with the purpose of bone modification is very promising. This is performed after the patient’s growth process is complete. Cosmetic changes can be made during the growth process, but they are neither recommended nor do they lead to a permanent solution.With the end of physical growth, a correction of the bones can be performed in a surgical procedure. In an extension of the bones, the affected toe is adjusted to the desired size. If necessary, physiotherapy is recommended to learn the altered gait without complications. In most cases, patients are subsequently symptom-free and healed. In individual cases, adversity may occur, resulting in poor posture of the body or gait insecurities. These can usually be corrected by wearing orthopedic shoes or by reoperation.
Prevention
Preventing brachymetatarsia is unfortunately not possible. Thus, the deformity of the foot already exists since birth.
What you can do yourself
Affected persons have no possibility to treat the shortening of the metatarsal causally. Very often, however, the deformity is not accompanied by physical suffering, but primarily by psychological suffering. Affected persons often feel stigmatized because of their condition and therefore avoid all situations in which their bare feet are visible to third parties. For this reason, they avoid water sports or visits to the beach and never walk barefoot. Inhibitions also often exist in the social environment, which in extreme cases even put a strain on the life partnership. Adults can have a surgical toe extension performed by an expert specializing in aesthetic foot surgery. If the surgery is exclusively cosmetic in nature, those affected must bear the costs themselves. However, this is not the case if the affected person suffers severely from the toe shortening. Anyone considering an operation should in any case ask their health insurance company in advance about the possibility of having the costs covered. In children and adolescents who are still growing, no surgical intervention can be performed. Especially during puberty, however, optical anomalies become a major problem for adolescents. Parents should definitely take their children’s fears seriously and not trivialize the problem. At the latest when an adolescent begins to isolate himself socially, the help of a psychologist should be sought.