Pfeiffer syndrome: causes, symptoms and treatments

The stage of intrauterine development is one of the most delicate periods of life and, as small alterations in the functioning of the body can cause abnormal growth of the body.

that’s why deformities that may appear during fetal development they are capable of seriously compromising the quality of life of the person, even of causing his death in a few months or weeks.

Pfeiffer’s syndrome is one of the diseases that can leave serious consequences physical and psychological in the life of the child, as it directly affects the growth of the brain. Below we will see what are the symptoms, causes, treatments and general characteristics of this health problem.

    What is Pfeiffer Syndrome?

    The pathology known as Pfeiffer’s syndrome is a disorder of genetic causes, the main effect of which is premature fusion of the bones of the skull, Which causes the brain, when it exerts pressure on the vault which covers it, to cause deformations visible to the naked eye and which, in turn, do not develop properly.

    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.

      the causes

      Pfeiffer’s syndrome is considered a disease based on the genetic inheritance of a dominant traitThus, only one copy of the mutated gene is needed for symptoms to develop. Both father and mother are able to pass it on.

      In exceptional cases, the mutation may first appear in the lineage of recent generations, which would also produce symptoms.

      Types of Pfeiffer syndrome

      There is more than one system for classifying types of Pfeiffer syndrome. One of the most popular is that of Greig and Warner, who distinguish the forms of the pathology according to its severity and highlight the changes observed after the first corrective surgery, which must be early:

      Type A: slight problems

      No changes were observed after the operations, as the first symptoms were mild.

      Type B: moderate problems

      The improvement is significant.

      Type C: serious problems

      The improvement after the operation is very significant.


      As we have seen, the main symptom associated with Pfeiffer syndrome is the appearance of a deformity of the head.

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

      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 underdeveloped, While the lower part is, in comparison, disproportionate and hearing loss is common, as there is also no room for the ear parts to form well. It is also possible that mental retardation will develop.

      Another typical symptom of Pfeiffer’s syndrome is misalignment of the toes and hands, or excessive growth in thickness of them. In some cases, in addition, they also appear chest organ malformations and breathing problems.

      It should be noted that, although the causes of this pathology are known to be mainly genetic, it does not appear simply by mutation in a gene, but Pfeiffer’s syndrome can appear in different forms. In short, the same symptoms do not always appear and they are not as advanced.


      Pfeiffer’s syndrome is diagnosed after birthO, When the specialist measures the proportions of the skull and fingers. Before birth, however, it is already possible to detect signs of abnormal development, which means that you have to wait until birth to be able to know exactly what the pathology is.


      As we have mentioned, it is very important to intervene quickly after the detection of the symptoms of the pathology, in order to prevent the deformities from causing secondary problems.

      Anyway, it is necessary to offer individualized treatment adapt to each specific situation, addressing the present problems taking into account the age of the child and his family context. However, surgery hurts to be recommended because it improves the prospects for brain and facial development, with all the benefits that come with it (especially for the eyes and hearing.

      It is also common perform cosmetic surgery simply to improve the appearance of the face, And prevent psychological problems that may arise related to problems in relationships with others, self-esteem, etc.

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