Currently, genetic mutations are of interest for study, as medicine needs new methods and approaches to address hereditary and genetic diseases. One of the rarest diseases is Pfeiffer's syndrome, the number of patients with which is observed in one case per 1 million people. This disease was first discovered in 1964 by Arthur Pfeiffer. He described patients with injuries to the shape of the head, as well as the bones of the limbs.
Description
Pfeiffer's syndrome is a disorder at the genetic level, which is manifested by premature fusion of the bones of the skull, which becomes an obstacle to the further growth of the skull, while changing the shape of the head and face. Patients have a convex forehead, hypoplasia of the upper jaw, strongly protruding eyes. This causes a number of disturbances. The disease can provoke deafness, impaired mental development, pathology of the jaw and teeth.
Etiology and epidemiology
The disease can affect people of different sexes. It is hereditaryand rarely seen. The Pfeiffer syndrome, the photo of which is provided, is associated with mutations in fibroblasts 1 and 2, which play an important role in the development of bone tissue. Race and nationality also do not affect the development of the disease. It is very important to carry out early diagnosis, since the further life of the patient depends on timely treatment. The disease is observed in one child per 1 million.
Classification and symptoms
Currently, 3 forms of the disease are known, which differ in symptoms, course and prognosis of the disease. Physicians determine the type of disorder by pronounced signs. Genetic testing is performed only if the diagnosis is confirmed. Forms of pathology:
- Pfeiffer syndrome type 1 – is the most common variant of the disease. At the birth of a child, a pathology of facial development is observed: an anomaly of the upper jaw bones, a flat bridge of the nose, exophthalmos and hypertelorism. The shape of the skull is also changed, the limbs are deformed. In the future, dental pathology, hypoplasia, and so on may develop.
- Pfeiffer syndrome type 2 is characterized by fusion of the bones of the skull. Therefore, the head becomes like a clover leaf. This form of the disease provokes mental retardation, multiple neurological disorders. The first fingers of the extremities are dilated, there are disorders in the development of internal organs. All this can cause death at an early age.
- Pfeiffer syndrome type 3 is characterized by the same manifestations as in the second case, butthe head does not acquire the shape of a "trefoil", it is elongated in height. Teeth begin to develop early, often children are born with teeth. This form of illness results in disability or death.
Diagnosis and treatment
Early diagnosis of Pfeiffer's syndrome is very important, because timely treatment will help to avoid various complications. But this applies only to the first type of disease. In all other cases, the defects are very severe and not amenable to therapy. For diagnosis, X-rays, genetic tests are used, and preventive ultrasound during pregnancy is performed. There is no specific treatment for this disease. It is only symptomatic. Doctors reduce high intracranial pressure, normalize the development of the nervous system, eliminate some malformations of internal organs. Vitamins and nootropics are prescribed for treatment.
Forecast and prevention
Pfeiffer's syndrome has a disappointing prognosis. What to expect? The first type of disease has a slightly better prognosis. It depends on the timely treatment started. In this case, patients have a normal level of intelligence, and live to old age, and the risk of developing the same disease in offspring is 50%. In all other cases, the disease has a poor prognosis. The disease often leads to death or profound disability.
Prevention of the disease is possible only if diagnosed during pregnancy. A woman is given an ultrasound scan and genetic studies to detect abnormalities in the development of the fetus. In the first type of the disease, the hereditary transmission of the disease to offspring is 50%; in the second and third types, spontaneous mutations occur that are difficult to determine. Therefore, it is so important to conduct a study on the presence of anomalies in the fetus in time.
