Pfeiffer Syndrome is an extremely rare genetic disease that occurs on average in one out of 100 thousand newborns. Equally often affects boys and girls. The main symptom of the disease is 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 signs of which were abnormalities in the structure of the skull and the fusion of fingers on the feet or hands (syndactyly). The syndrome was observed in eight patients from one family, which indicated the genetic nature of the disease. Further studies showed that Pfeiffer syndrome is transmitted in an autosomal dominant manner.
Ultrasound examination allows you to detect this disease in the fetus in the second trimester of pregnancy. Ultrasound shows abnormalities in the development of the skull, internal organs, and limbs.
Symptoms
In 1993, American geneticist Michael Cohen proposed classifying Pfeiffer syndrome into three types depending on the severity of the symptoms. Now its classification is generally accepted and widely used in the medical literature.
Symptoms of Pfeiffer type 1 syndrome include craniosynostosis, a condition in which one or more cranial sutures prematurely fuse to form a complete 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, and splitting of the palate. 50% of patients have hearing loss. Most people with this type of disease have a normal level of intelligence and do not have neurological abnormalities.
In children with type 1 Pfeiffer syndrome, external symptoms, such as wide short fingers and toes, are almost always observed. Syndactyly is a possible, but not required symptom for this type of pathology.
This type of syndrome is inherited autosomally dominantly.
Below is a photo of Pfeiffer syndrome. Life expectancy in Russia for people suffering from this disease exceeds 60 years.
A type 2 trefoil skull, fusion of the vertebrae, syndactyly, and forward displacement of the eyeballs (proptosis) are characteristic of type 2 disease. From the first days of life, serious neurological disorders are manifested.
The 3rd type of disease is characterized by an even earlier craniosynostosis. The skull is abnormally elongated and does not form a “trefoil”. There are tooth abnormalities, 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 the internal organs and neurological disorders are not compatible with life. Mutations responsible for these two types of Pfeiffer syndrome occur sporadically and are not genetically inherited.
Causes
Pfeiffer syndrome is associated with mutations of fibroblast growth factor receptor 1 (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 body bones .
It is assumed that one of the risk factors for type 2 and type 3 syndrome is the age of the father due to an increase in the number of mutations in semen over the years.
Treatment
Modern medicine does not yet allow the elimination of mutations in the human genome, even if it is known in which genes the rearrangements occurred. Therefore, for Pfeiffer syndrome, as for most other genetic diseases, treatment is symptomatic. For patients with type 2 and type 3 disease, the prognosis is poor: numerous developmental abnormalities cannot be corrected either medically or surgically.
Pfeiffer type 1 syndrome is compatible with life. The main symptom of the disease - premature fusion of the bones of the skull - can be surgically corrected. The operation is recommended for children until the age of three months.
In addition, surgery is effective in the case of simple syndactyly. Treatment is best started at the age of 18-24 months, during the period of active growth of fingers and toes.