Pfeiffer's Syndrome is an extremely rare genetic disease that occurs on average in one in 100,000 newborns. Equally often affects boys and girls. The main symptom of the disease is the early fusion of the bones of the skull during embryogenesis, due to which the brain cannot develop normally in the future.
General information
The disease was discovered by the famous German geneticist Rudolf Pfeiffer. In 1964, he described the symptoms of a previously unknown disease, the main features of which were abnormalities in the structure of the skull and fusion of 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 research has shown that Pfeiffer syndrome is transmitted in an autosomal dominant fashion.
Ultrasound examination can detect this disease in the fetus already in the second trimester of pregnancy. Ultrasound shows anomalies in the development of the skull, internal organs and limbs.
Symptoms
In 1993, the American geneticist Michael Cohen proposedclassify Pfeiffer syndrome into three types based on the severity of the symptoms. Now its classification is generally accepted and widely used in the medical literature.
Symptoms of type 1 Pfeiffer syndrome include craniosynostosis, a condition in which one or more cranial sutures fuse prematurely to form intact bone. As a result, there are changes in the shape of the skull and abnormal facial features - hypertelorism, low-set ears. There may be visual impairment, increased intracranial pressure, splitting of the palate. Hearing loss occurs in 50% of patients. Most people with this type of illness have a normal level of intelligence and do not have neurological abnormalities.
Children with type 1 Pfeiffer syndrome almost always have outward signs, such as broad short fingers and toes. Syndactyly is a possible but not mandatory symptom for this type of pathology.
This type of syndrome is inherited in an autosomal dominant manner.
Below is a photo of Pfeiffer's syndrome. Life expectancy in Russia for people suffering from this disease exceeds 60 years.
Disorder type 2 is characterized by a trefoil-shaped skull, fusion of the vertebrae, syndactyly, and forward displacement of the eyeballs (proptosis). Serious neurological disorders appear from the first days of life.
3rd type of the disease is characterized by an even earliercraniosynostosis. The skull is abnormally elongated and does not form a "shamrock". There are dental anomalies, hypertelorism, mental retardation, malformations of internal organs.
Life expectancy in the 2nd and 3rd type of the disease ranges from several days to several months - malformations of 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.
Reasons
Pfeiffer syndrome is associated with mutations in fibroblast growth factor receptor 1 (FGFR1) on chromosome 8 or in fibroblast growth factor receptor 2 (FGFR2) on chromosome 10. The genes that affect the mutations are responsible for the normal growth of fibroblasts, which plays a key role in the development of the body's bones.
It is believed that one of the risk factors for type 2 and 3 syndrome is the age of the father due to an increase in the number of mutations in sperm over the years.
Treatment
Modern medicine does not yet allow eliminating mutations in the human genome, even if it is known in which genes the rearrangements occurred. Therefore, for Pfeiffer's syndrome, as for most other genetic diseases, treatment is symptomatic. For patients with the 2nd and 3rd type of the disease, the prognosis is unfavorable: numerous developmental anomalies cannot be corrected either medically or surgically.
Pfeiffer type 1 syndrome is compatible with life. The main symptom of the disease is premature fusion of bonesskull - can be corrected surgically. The operation is recommended for children under the age of three months.
In addition, surgery is effective in cases of simple syndactyly. Treatment is best started between 18 and 24 months of age, when fingers and toes are actively growing.
