Tibial hemimelia is the congenital absence or underdevelopment of the tibia (medical term tibia). The condition is also known as a longitudinal tibial defect. Tibial hemimelia can occur in isolation, but it often occurs in combination with malformations of the foot or a so-called varus position in the hindfoot.
What is tibial hemimelia?
Tibial hemimelia is an extremely rare condition, affecting just one in a million newborn babies. For hi dictionary definitions, please visit foodanddrinkjournal.com.
The congenital malformation that occurs as part of tibial hemimelia is characterized by an incomplete tibia with a relatively intact calf bone (medical term fibula).
Tibial hemimelia can occur unilaterally or bilaterally. This is either an isolated anomaly or part of a more complex syndrome of malformations.
For example, the so-called Gollop-Wolfgang complex or the three-part thumb polysyndactyly syndrome occur.
With regard to the causes of tibial hemimelia, various approaches are under discussion, but the exact reasons for the development of the disease are not yet known. For this reason, no reliable statements can be made about the causes of tibial hemimelia. However, medical research is concerned with the causes of this rare deformity of the extremities.
Some hereditary cases were described, with a genetic analysis being recommended. In most cases, the disease occurs sporadically. In those cases in which familial inheritance was suspected, an autosomal dominant or autosomal recessive process of inheritance was concluded. In addition to inheritance of tibial hemimelia, other causes are also under discussion, for example in the form of external influences in various phases of growth of the affected bones.
Symptoms, Ailments & Signs
In the context of tibial hemimelia, various symptoms and complaints can appear in patients affected by the disease. The foot of the affected leg is positioned normally in only half of the sick person. In the majority of cases, however, the medial rays of the foot are absent.
It turns out that the bone cores of the affected hindfoot are fused. In addition, various other malformations can occur in connection with a tibial hemimelia, which show up frequently in the affected persons. These include, for example, a congenital deformity of the hands ( syndactyly ) and an abnormal number of limbs on the hands and feet or so-called multi-fingeredness ( polydactyly ).
In addition, tibial hemimelia can be associated with a positional anomaly of the testicles ( cryptorchidism ) and femoral hypoplasia. Tibial hemimelia can occur as part of other malformation syndromes. Depending on the extent of the tibial hemimelia, there may be a knee flexion contracture and reduced activity of the extensor muscles of the thigh.
Diagnosis & course of disease
With regard to the diagnosis of tibial hemimelia, there are various methods of examination to choose from. The doctor treating you selects these depending on the individual case and tries to avoid unnecessary and stressful diagnostic measures as far as possible. The malformation of the shinbone, which is typical for the disease, can already be detected in the womb in the course of an ultrasound examination of the embryo.
At the latest after birth, the shortening and misalignment of the tibia bone become evident. X-ray examinations can be used to determine the extent of the deformity and special bony changes. The cartilaginous structures as well as their position and relation to the joint can be shown by means of sonographic examinations. The diagnosis of tibial hemimelia must always be confirmed by clinical and radiological findings.
Tibial hemimelia often occurs with certain other malformations, especially those of the foot. The diseases pes equinovarus and a partial duplication of a foot, which require surgical correction, frequently occur here. In addition, surgical reconstructions and prostheses adapted to individual growth are required for optimal functional results.
Carrying out a differential diagnosis is also of particular relevance when diagnosing a tibial hemimelia. In particular, tibial hemimelia must be distinguished from Eaton-McKusick syndrome, which is characterized by multiple formations of the big toes, triphalangaeal thumbs, and six-fingered hands.
Tibial hemimelia can result in a number of symptoms and complications. Typical are, for example, severe malformations in the area of the feet and shins. In most cases, these deformities result in restricted movement and aesthetic flaws. Heart and kidney problems can also occur.
If the course is severe – for example, if kidney failure occurs – these symptoms can be fatal. Occasionally, there are also developmental disorders that are associated with reduced intelligence. Many of those affected develop an inferiority complex due to the deformities and mental limitations and suffer from reduced self-esteem. Depression can also occur. In treatment, the main risks come from amputation.
Removal of a body part can cause a sudden drop in blood pressure and infection. Wound healing disorders and phantom pains sometimes occur after the procedure. If the joints are overstressed or overloaded due to missing limbs, this can lead to complications such as joint wear, inflammation and fractures. Sometimes those affected also have problems using the prosthesis or suffer psychologically from the physical limitations.
When should you go to the doctor?
With this condition, the patient needs medical evaluation and treatment to prevent further complications. Only an early diagnosis by a doctor can also prevent the symptoms from worsening, so that the doctor should be consulted as soon as the first signs and symptoms of the disease appear. However, the disease cannot be fully treated as it is a congenital disease. If the person concerned wishes to have children, genetic counseling should be carried out. A doctor should be consulted for this disease if the person affected has various malformations.
These can affect the entire body and significantly reduce the quality of life. In many cases, the deformities occur on the hands or feet of the person affected, so that there are also significant restrictions in everyday life. A doctor should always be consulted with these symptoms.
As a rule, the disease can be diagnosed by a pediatrician or a general practitioner. Further treatment depends on the type and severity of the malformations and is then carried out by a specialist. Since this disease can also lead to depression, a psychologist should also be consulted.
Treatment & Therapy
Various therapeutic methods and measures can be considered for the treatment of tibial hemimelia, which are adapted to the respective clinical picture of the patient concerned. As part of the treatment of tibial hemimelia, the disease is first classified into three types. Type I is characterized by the absence of the tibia. Here, the treatment is usually carried out using an orthosis.
In addition, if the thigh function is good, the fibula can be surgically placed under the so-called femur bone. In type II, the tibia is missing only distally. As part of the therapy, a connection is made between the distal part of the tibia and the fibula to stabilize the knee joint. Type III is characterized by a malformation of the distal tibia with malformation of the ankle flexure. In this case, a functional ankle joint should be created as part of an operation.
Effective measures to prevent tibial hemimelia are currently not known, since the disease is congenital in most cases. Early treatment is all the more important, which should be carried out in a children’s orthopedic center if possible and should be based on the respective type of tibial hemimelia.
You can do that yourself
Patients with tibial hemimelia are often severely restricted in their mobility because they suffer from a deformation of the tibia. This results in various restrictions in everyday life, which, however, do not necessarily have to lead to a reduced quality of life.
Since tibial hemimelia is a congenital disease, those affected often learn to deal with the limitations at an early stage. Regular medical check-ups and examinations by various specialists are essential to examine the current state of the deformity. Especially until they reach adulthood, patients have to attend numerous doctor’s appointments. In addition, there is usually physiotherapy, which strengthens the muscles and increases mobility. Thus, at best, patients also benefit from positive effects on their independence. The exercises taught by the therapist can also be carried out by those affected at home if possible, thereby promoting their own mobility and muscle strength.
Although people with tibial hemimelia have a limited range of occupations that are suitable for them. Within this spectrum, however, there are numerous options open to you. Typically, patients with tibial hemimelia perform work activities that can be performed while seated. Visiting self-help groups can help to increase your own well-being despite the illness.