Currently, genetic mutations are of interest for study, since medicine needs new methods and approaches to solving hereditary and genetic diseases. One of the rarest diseases is Pfeiffer syndrome , the number of patients with which is observed in one case per 1 million people. This ailment was first discovered in 1964 by Arthur Pfeiffer. He described patients with injuries to the shape of the head, as well as limb bones.
Description
Pfeiffer 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 further growth of the skull, while the shape of the head and face changes. Patients have a convex forehead, upper jaw hypoplasia, bulging eyes. This causes a number of violations. 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 hereditary and rare. Pfeiffer syndrome, a photo of which is provided, is associated with mutations of fibroblasts 1 and 2, which play an important role in the development of bone tissue. Racial and ethnicity also does not affect the development of the disease. It is very important to conduct an early diagnosis, since the future life of the patient depends on timely treatment. The disease is observed in one child per 1 million.
Classification and symptoms
Currently, there are 3 known forms of the disease that differ in the symptoms, course and prognosis of the disease. Doctors determine the type of disorder by pronounced signs. A genetic study is carried out only if the diagnosis is confirmed. Forms of pathology:
- Pfeiffer type 1 syndrome is the most common variant of the disease. At the birth of a child, a pathology of the development of the face is observed: anomaly of the upper jaw bones, flat nose bridge, exophthalmos and hypertelorism. The shape of the skull is also changed, the limbs are deformed. In the future, tooth pathology, hypoplasia and so on may develop.
- Pfeiffer type 2 syndrome 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 enlarged, developmental disorders of the internal organs are observed. All this can cause death at an early age.
- Pfeiffer type 3 syndrome is characterized by the same manifestations as in the second case, but the head does not take the form of a “trefoil”, it is elongated in height. Teeth begin to develop early, often children are born already with teeth. This form of the disease leads to disability or death.
Diagnosis and treatment
It is very important to diagnose Pfeiffer syndrome early, as 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 do not respond to therapy. For diagnosis, radiography, genetic tests are used, preventive ultrasound is performed during pregnancy. There is no special 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. For treatment, vitamins and nootropic drugs are prescribed.
Forecast and Prevention
Pfeiffer's syndrome prognosis is disappointing. What to expect? The first type of disease prognosis is slightly better. It depends on timely treatment. In this case, patients have a normal level of intelligence, and live to old age, and the risk of developing the same disease in the 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 during diagnosis during pregnancy. An ultrasound and genetic studies are done to the woman to identify pathologies of the fetal development. In the first type of disease, hereditary transmission to the offspring of the disease is 50%, in the second and third types spontaneous mutations occur , which are difficult to determine. Therefore, it is so important to conduct a study in time for the presence of abnormalities in the fetus.