/ / Pfayffer syndrome - a rare genetic disorder

Pfayffer syndrome is a rare genetic disorder

Currently, genetic mutationsare of interest for study, since medicine needs new methods and approaches to solving hereditary and genetic diseases. One of the most rare diseases is Pfeiffer syndrome, the number of patients in which observed inone 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.

Pfeiffer syndrome


Pfeiffer's syndrome Is a disorder at the genetic level,which is manifested early fusion of the skull bones, which becomes an obstacle to the further growth of the skull, while the shape of the head and face changes. Patients have a convex forehead, hypoplasia of the upper jaw, strongly bulging eyes. This causes a number of violations. The disease can provoke deafness, violation of mental development, pathology of the jaw and teeth.

Etiology and Epidemiology

The disease can affect people of different sex. It is hereditary and rare. Linked Pfeiffer's syndrome, photo which is provided, with mutationsfibroblasts 1 and 2, which play an important role in the development of bone tissue. Racial and national affiliation also does not affect the development of the disease. It is very important to conduct early diagnosis, since the patient's further life depends on timely treatment. The disease is observed in one child per 1 million.

 Pfeiffer type 1 syndrome

Classification and symptomatology

Currently, there are 3 forms of the disease,which differ in the symptomatology, course and prognosis of the disease. Physicians determine the type of disorder by pronounced symptoms. Genetic research is carried out only if the diagnosis is confirmed. Forms of pathology:

  1. Pfayffer syndrome type 1 - the most common variant of the disease.At a birth of the child pathology of development of the face is observed: anomaly of the top jaw bones, flat nose bridge, exophthalmos and hypertelorism. The shape of the skull is also changed, limbs are deformed. In the future, the pathology of the teeth, hypoplasia, and so on can develop.
  2. Pfeiffer type 2 syndrome characterized by the fusion of the bones of the skull.Therefore, the head becomes like a leaf of a clover. This form of the disease provokes mental retardation, multiple neurological disorders. The first toes of the extremities are enlarged, disorders of development of internal organs are observed. All this can cause death at an early age.
  3. Pfayffer type 3 syndrome is characterized bysame manifestations, as in the second case, but the head does not take the form of a "trefoil", it is stretched to the height. Teeth begin to develop early, often children are born with teeth. This form of the disease leads to disability or death.

Diagnosis and treatment

Pfeiffer's syndrome photo

Early diagnosis of Pfeiffer's syndrome is veryit is important, since 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 can not be treated. For diagnosis, use radiography, genetic tests, conduct preventive ultrasound in pregnancy. There is no special treatment for such a disease. It is only symptomatic. Physicians reduce high intracranial pressure, normalize the development of the nervous system, eliminate certain malformations of internal organs. For treatment, vitamins and nootropic drugs are prescribed.

Pfeiffer type 2 syndrome

Prognosis and prevention

Pfeiffer's syndrome the outlook is disappointing.Why wait? The first type of disease prognosis is slightly better. It depends on the timely treatment. In this case, patients have a normal level of intelligence, and live to the old age, and the risk of development in the offspring of the same ailment is 50%. In all other cases, the disease has a poor prognosis. Ailment often leads to death or deep disability.

Prevention of the disease is possible only withdiagnosis during pregnancy. Women do ultrasound and genetic studies to identify pathologies of 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 that are difficult to determine. Therefore, it is so important to carry out a study on the presence of abnormalities in the fetus on time.


Similar news