Pfeiffer's syndrome: causes, symptoms, treatment

Pfayffer syndrome is extremely rarea genetic disease that occurs on average in one out of 100,000 newborns. Equally often affects boys and girls. The main symptom of the disease is early coalescence of the skull bones in the process of embryogenesis, because of which the brain can no longer develop normally.

General information

The disease was discovered by the famous Germangeneticist Rudolf Pfeiffer. In 1964, he described the symptoms of a previously unknown disease, the main signs of which were abnormalities in the structure of the skull and fusion of the fingers on the feet or hands (syndactyly). The syndrome was observed in eight patients from the same family, which indicated the genetic nature of the disease. Further studies have shown that Pfeiffer syndrome is transmitted by an autosomal dominant type.

Ultrasound can detect this disease in the fetus already in the second trimester of pregnancy. On ultrasound, abnormalities of the development of the skull, internal organs and extremities are seen.

Symptoms

In 1993, the American geneticist Michael CohenHe proposed to classify Pfeiffer's syndrome into three types depending on the severity of the symptoms. Now its classification is generally accepted and widely used in medical literature.

Symptoms of Pfayffer syndrome type 1 includeCraniosynostosis - a condition in which one or more cranial sutures prematurely merge, forming a holistic bone. As a result, changes in the shape of the skull and abnormal facial features are noted - hypertelorism, low set ears. There may be a deterioration in vision, increased intracranial pressure, cleft palate. In 50% of patients, hearing loss is noted. Most people with this type of disease have a normal level of intelligence and do not have neurological abnormalities.

In children with type 1 Pfayffer syndrome, externalsigns, such as wide short fingers on the arms and legs, are observed almost always. Syndactyly is a possible, but not necessary, symptom for this type of pathology.

This type of syndrome is inherited autosomal dominantly.

Below is a photo of the Pfeiffer syndrome. Life expectancy in Russia for people suffering from this disease exceeds 60 years.

For type 2 disease, the skull is characterized by aform of "trefoil," the fusion of the vertebrae, syndactyly and the shifting of the eyeballs forward (proptosis). From the first days of life, serious neurological disorders appear.

The third type of disease is characterized even moreearly craniosynostosis. The skull is abnormally elongated and does not form a "trefoil". There are abnormalities of teeth, hypertelorism, mental retardation, malformations of internal organs.

Lifetime at 2nd and 3rd typethe disease ranges from several days to several months - the defects of the internal organs and neurological disorders are not compatible with life. The mutations responsible for these two types of Pfeiffer syndrome occur sporadically and are not genetically inherited.

Causes

Pfayffer syndrome is associated with mutations of receptor 1fibroblast growth factor (FGFR1) on chromosome 8 or with fibroblast growth factor receptor 2 (FGFR2) on chromosome 10. Genes that affect mutations are responsible for the normal growth of fibroblasts, which plays a key role in the development of the bones of the body.

It is assumed that one of the risk factors of type 2 and type 3 is the age of the father due to the increase in the number of mutations in semen over the years.

Treatment

Modern medicine does not yet allow to eliminatemutations in the human genome, even if it is known in which genes there have been perestroika. Therefore, for Pfeiffer syndrome, as for most other genetic diseases, treatment is symptomatic. For patients with type 2 and type 3, the prognosis is unfavorable: numerous developmental anomalies can not be corrected either medically or surgically.

Pfayffer type 1 syndrome is compatible with life. The main symptom of the disease - premature fusion of the skull bones - can be corrected surgically. The operation is recommended for children until the age of three months.

In addition, surgical intervention is effective in the case of simple syndactyly. Treatment is best to begin at the age of 18-24 months, during the active growth of fingers and toes.