Pfeiffer syndrome: causes, symptoms and treatments

The intrauterine development stage 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 can appear during the development of the fetus they are capable of seriously compromising the person's quality of life, or even causing his death in a few months or weeks.

Pfeiffer syndrome is one of the diseases capable of leaving serious sequelae physical and psychological in the life of the boy or girl, since it directly affects the growth of the brain. Next we will see what are the symptoms, causes, treatments and general characteristics of this health problem.

• Related article: "The development of the nervous system during pregnancy"

What is Pfeiffer syndrome?

The pathology known as Pfeiffer syndrome is a disorder of genetic causes whose main effect is premature fusion of the skull bones, which causes the brain, by exerting pressure on the vault that covers it, causes deformities that are seen with 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 presented deformities in the hands, feet and head.

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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 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 this one by Greig and Warner, who distinguish forms of the pathology depending on their severity and highlighting the changes 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 on the head.

Specifically, the forehead is bulky, especially in the area above where the eyebrows will grow, and the eyes are bulging and with a great 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 the early fusion of the skull bones, the upper jaw is underdeveloped, while the lower one is disproportionately large in comparison, and hearing loss is frequent, as there is also no room for the parts of the ear to form well. It is also possible that it develops Mental retardation.

Another typical symptom of Pfeiffer syndrome is the incorrect alignment of the fingers and toes, or an excessive growth in the thickness of these. 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, this It does not appear simply because of a gene mutation, but Pfeiffer syndrome can appear in different shapes. In short, the same symptoms do not always appear nor are they equally evolved.

Diagnosis

Pfeiffer syndrome is diagnosed as soon as after birth.either, when the specialist doctor measures the proportions of the skull and fingers. However, before childbirth it is already possible to detect signs of abnormal development, which means that the child must wait for the birth in order to know exactly what pathology it is.

Treatments

As we have mentioned, it is extremely important 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 an individualized treatment to adapt to each specific situation, addressing the current problems taking into account the child's age and her family context. In any case, surgical intervention hurts to be recommended, since it allows to improve the prospects of development of the brain and the face, with all the benefits that this implies (especially for the eyes and the ability to auditory.

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, and self-esteem, etc.