Pfeiffer Syndrome: Causes, Symptoms And Treatments
The stage of intrauterine development is one of the most delicate vital periods, and since small alterations in the functioning of the organism can cause it to grow abnormally.
That is why deformities that may appear during fetal development They are capable of very seriously compromising the person’s quality of life, or even causing their death in a few months or weeks.
Pfeiffer syndrome is one of the diseases capable of leaving serious consequences physical and psychological effects in the life of the boy or girl, since it directly affects brain growth. Below we will see what are the symptoms, causes, treatments and general characteristics of this health problem.
The pathology known as Pfeiffer syndrome is a disorder of genetic causes whose main effect is premature fusion of skull bones which causes the brain, by putting pressure on the vault that covers it, to cause deformities that are visible to the naked eye and, in turn, the brain does not develop correctly.
This disorder was discovered by the German geneticist Rudolf Arthur Pfeiffer, who studied the case of a family whose members had deformities in their hands, feet, and head.
Causes
Pfeiffer syndrome is considered to be a disease based on the genetic inheritance of a dominant trait, so only a single copy of the mutated gene is needed for symptoms to develop. Both the father and the mother are capable of transmitting it.
In rare cases, it is possible that the mutation appears for the first time in the genealogical line of recent generations, which would also produce symptoms.
Types of Pfeiffer syndrome
There is more than one classification system for the types of Pfeiffer syndrome. One of the most popular is this one by Greig and Warner, who distinguish forms of the pathology depending on its severity and highlighting the changes that are observed after the first corrective surgery, which must be early:
Type A: mild problems
No changes are observed after the operations, since the initial symptoms were mild.
Type B: moderate problems
The improvement is significant.
Type C: serious problems
The improvement after the operation is very significant.
Symptoms
As we have seen, the main symptom associated with Pfeiffer syndrome is the appearance of a deformity in the head.
Specifically, the forehead is bulging, especially in the area above where the eyebrows will grow, and the eyes are bulging and with a large separation between them due to the lack of space inside the skull.
On the other hand, also due to the chain of deformations generated by the early fusion of the bones of the skull, the upper jaw is insufficiently developed, while the lower one is, in comparison, disproportionately large, and hearing loss is common, since there is also no room for the parts of the ear to form properly. It is also possible that mental retardation may develop.
Another typical symptom of Pfeiffer syndrome is incorrect alignment of the fingers and toes, or excessive growth in their thickness. In some cases, in addition, they also appear malformations in chest organs, and breathing problems.
It must be taken into account that, although it is known that the causes of this pathology are fundamentally genetic, it does not appear simply due to the mutation of a gene, but Pfeiffer syndrome can appear in different forms. In short, the same symptoms do not always appear nor are they equally evolved.
Diagnosis
Pfeiffer syndrome is diagnosed soon after birth either, when the specialist doctor measures the proportions of the skull and fingers. However, before delivery it is already possible to detect signs of abnormal development, which means that we must wait for the birth to know exactly what pathology it is.
Treatments
As we have mentioned, it is of utmost importance to intervene quickly after detecting the symptoms of the pathology, in order to prevent the deformities from causing secondary problems.
In any case, it is necessary to offer individualized treatment to adapt to each specific situation, addressing the present problems taking into account the age of the child and their family context. In any case, surgical intervention is hardly recommended, since it allows improving the prospects for development of the brain and face, with all the benefits that this entails (especially for the eyes and hearing ability.
It is also common perform cosmetic operations simply to improve the appearance of the face and prevent psychological problems that may arise linked to problems relating to others, self-esteem, etc.
