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 the development of the fetus are capable of seriously compromising the quality of life of the person, or even causing its death in a few months or weeks.

Pfeiffer syndrome is one of the diseases capable of leaving serious physical and psychological sequelae in the child’s life, as it directly affects the growth of the brain. The following are the symptoms, causes, treatments and general characteristics of this health problem.

What is Pfeiffer syndrome?

The condition known as Pfeiffer syndrome is a disorder with genetic causes. Its main effect is the premature fusion of the bones of the skull , which causes the brain, when it puts pressure on the dome that covers it, to cause deformities that are visible to the naked eye and, in turn, the brain does not develop in the right way.

This disorder was discovered by 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 a disease based on the genetic inheritance of a dominant trait , so only one copy of the mutated gene is needed for symptoms to develop. Both parents are capable of passing it on.

In exceptional cases, it is possible that the mutation appears for the first time in the family line of the last 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 that of Greig and Warner, which distinguishes forms of the pathology depending on its severity and highlighting the changes observed after the first corrective surgery, which should be early:

Type A: minor problems

No changes are observed after the operations, as 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 head deformity .

In particular, the forehead is bulging, especially in the area above where the eyebrows will grow, and the eyes are bulging with a large separation between them due to the lack of space inside the skull.

On the other hand, also because of the chain of deformations generated by early fusion of the skull bones, the upper jaw is underdeveloped , while the lower jaw is disproportionately large by comparison, and hearing loss is frequent, as 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 misalignment of the fingers and toes, or an overgrowth of the thickness of the fingers and toes. In some cases, malformations of the organs of the chest and breathing problems also occur.

It should be borne in mind that, although the causes of this pathology are known to be fundamentally genetic, it does not appear simply by 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 as soon as after birth or , when the specialist measures the proportions of the skull and fingers. However, before birth it is possible to detect signs of abnormal development, which makes it necessary to wait for the birth to know exactly what the condition is.

Treatments

As we have mentioned, it is of the 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 problems present, taking into account the age of the child and his or her family context. In any case, surgical intervention is painful to recommend, since it allows to improve the prospects of development of the brain and the face, with all the benefits that this entails (especially for the eyes and the hearing capacity.

It is also common to perform aesthetic operations simply to improve the appearance of the face , and prevent psychological problems that may arise linked to problems in relating to others, and self-esteem, etc.