Tibial hemimelia is an extremely rare condition and only occurs in one in every one million newborn children. The congenital malformation occurring in the context of tibial hemimelia is characterized by an incomplete tibia in a relatively intact calf bone (medical term fibula).
Tibial hemimelia can be unilateral or bilateral. It is either an isolated anomaly or part of a more complex malformation syndrome. For example, the so-called Gollop-Wolfgang complex or the tripartite thumb polysyndactyly syndrome occur.
Regarding the causes of tibial hemimelia, various approaches are under discussion, but the exact causes of the disease are not known at the present time. For this reason, no reliable information can be made about the causes of tibial hemimelia. However, medical research is concerned with the causes of this rare malformation of the extremities.
Partially inheritable cases were described, whereby a genetic analysis was recommended. In most cases, the disease occurs sporadically. In those cases where familial inheritance was suspected, an autosomal dominant or autosomal recessive process of inheritance was inferred. In addition to an inheritance of tibial hemimelia also other causes, such as in the form of external influences in different stages of growth of the affected bones for discussion.
Tibial hemimelia can cause a range of symptoms and symptoms in the patients affected by the disease. Only in half of the diseased person is the foot of the affected leg normal. In the majority of cases, however, the medial rays of the foot are absent.
It shows that the bone nuclei of the affected hindfoot are fused. In addition, in connection with a tibial hemimelia, various other malformations may occur, which are frequently found in the affected persons. These include, for example, a congenital malformation of the hands (syndactyly) as well as an abnormal number of limbs on the hands and feet or a so-called multiple fingering (polydactyly).
In addition, tibial hemimelia may be associated with a positional anomaly of the testis (cryptorchidism) as well as a femoral hypoplasia. Tibial hemimelia may occur in the context of other malformation syndromes. Depending on the severity of the tibial hemimelia, there may be a contracture of the knee joint as well as a reduced activity of the extensor muscles of the thigh.
With regard to the diagnosis of tibial hemimelia, various methods of examination are available. The attending physician selects these depending on the individual case and, if possible, tries to avoid unnecessary and burdensome diagnostic measures. The typical malformation of the tibial bone can be detected in the womb during an ultrasound examination of the embryo.
At the latest after the birth, the shortening and misalignment of the dummy bone are clearly evident. In the context of X-ray examinations, the extent of malformation and special bony changes can be determined. Sonographic examinations can be used to depict the cartilaginous structures as well as their position and position relative to the joint. The diagnosis of tibial hemimelia must always be confirmed by clinical and radiological findings.
Tibial hemimelia often occurs with certain other malformations, especially those on the foot. Here are the diseases Pes equinovarus and a partial duplication of a foot, which require a surgical correction. In addition, optimal functional results require surgical reconstructions as well as prostheses adapted to individual growth.
Special relevance in detecting a tibial hemimelia also has to carry out a differential diagnosis. Specifically, tibial hemimelia must be distinguished from Eaton-McKusick syndrome, which is characterized by multiple toes of the big toes, triphalangeal thumbs, and six-fingered hands.
Tibial hemimelia can cause a number of ailments and complications. For example, severe malformations in the area of the feet and the tibia are typical. In most cases, as a result of these malformations, there are restrictions on movement and aesthetic blemishes. Also complaints on the heart and on the kidneys can occur.
In case of a severe course - for example, if a kidney failure occurs - these symptoms can be fatal. There are also occasional developmental disorders associated with decreased intelligence. Many sufferers develop inferiority complexes due to malformations and mental limitations and suffer from decreased self-esteem. It can also come to depression. In treatment, the risks are mainly due to amputation.
The removal of a part of the body can lead to a sudden drop in blood pressure and infections. After the procedure there are sometimes wound healing disorders and phantom pain. If, due to missing limbs, there is a malfunction or overload of the joints, this can cause complications such as joint wear, inflammation and fractures. Sometimes, sufferers also have problems with the use of the prosthesis or suffer mentally from the physical limitations.
In this disease, the patient relies on medical examination and treatment to prevent further complications. Only a doctor's early diagnosis can help prevent a worsening of symptoms so that the doctor should be consulted at the first signs and symptoms of the disease. However, the disease can not be fully treated because it is a congenital disease. Should it come to the affected person to have a child, then a genetic counseling should be performed. A doctor should be consulted for this disease if the person has various malformations.
These can affect the entire body and significantly reduce the quality of life. In many cases, the malformations on the hands or on the feet of the person affected, so it comes to significant restrictions in everyday life. For these complaints, a doctor should always be consulted.
Usually the illness can be recognized by a pediatrician or by a general practitioner. The further treatment depends on the type and the form of the malformations and is then performed by a specialist. Since this disease can also lead to depression, a psychologist should also be consulted.
For the treatment of tibial hemimelia, various therapeutic methods and measures are considered, which are adapted to the particular clinical picture of the patient concerned. As part of the treatment of tibial hemimelia is initially a classification of the disease into three types. Type I is characterized by the absence of the tibia. Here, the treatment is usually carried out by means of orthosis.
In addition, with a good femoral function, the fibula can be surgically placed under the so-called femoral bone. In type II, the tibia is only distal. As part of the therapy, a connection between the distal part of the dummy bone and the fibula is made to stabilize the knee joint. Type III is characterized by a malformation of the distal tibia with an anomaly of the ankle fork. In this case, a functional ankle joint should be created during surgery.
Effective measures for the prevention of tibial hemimelia are not currently known because the disease is congenital in most cases. It is therefore all the more important to have early treatment, preferably in a pediatric orthopedic center, which should be based on the type of tibial hemimelia.
Patients with tibial hemimelia are often severely restricted in their mobility as they suffer from tibial deformation. This results in various restrictions in everyday life, but not necessarily lead to a reduced quality of life.
Because Tibial Hemimelia is a congenital disorder, those affected often learn early to deal with the limitations. Regular medical check-ups and examinations by various medical specialists are essential in order to investigate the current state of the deformation. In particular, until reaching adulthood, patients must attend numerous medical appointments. In addition, there is usually a physiotherapy that strengthens the muscles and increases the ability to move. Thus, patients benefit at best from positive effects on their independence. The exercises mediated by the therapist perform the affected person as much as possible at home, thereby promoting one's own mobility and muscular strength.
Although people with tibial hemimelia have a limited choice of occupations they may be eligible for. Within this spectrum, however, there are still many choices open to you. Typically, patients with tibial hemimelia perform work activities that are practicable while seated. Visiting self-help groups can help to increase one's well-being despite the illness.