Pfeiffer Syndrome

Pfeiffer Syndrome is a rare 7 syndrome that is said to affect 1 in 100,000 people in the world.

MORPHOLOGICAL CHARACTERISTICS

The Pfeiffer syndrome has the following characteristics:

  • Synostoses of cranial sutures (craniosynostosis) which are responsible for severe skull malformations
  • Midface Hypoplasia (underdeveloped midfacial regions) 
  • Occular Hypertelorism (widely spaced eyes)
  • Anatomical abnormalities of the respiratory system
  • Exophthalmos or exophthalmia (bulging eyes)
  • Broad, short thumbs and big toes
  • Syndactyly (webbing) may occur between the second and third fingers and toes. Unusually short fingers and toes (brachydactyly) can be present.

FUNCTIONAL PROBLEMS

The functional problems that accompany the Pfeiffer syndrome are multiple, very seriously and include:

  • Shortness of breath
  • Vision loss due to corneal exposure or prolonged increase of intracranial pressure (ICP)
  • Neurological problems
  • Hearing loss or reduction in over 50% of the population with Pfeiffer syndrome

Taking into account the clinical picture and the gene mutations that are detected, the condition of a patient may vary from relatively mild to very heavy.

In the process of medical evaluation, the patients with Pfeiffer syndrome are classified into Type 1 (mild to moderate severe type), Type 2 or Type 3 (severe types).

Patients with Type 1 Pfeiffer syndrome usually have normal intelligence and a normal life span.

The cases Type 2 or Type 3 are the most severe forms of the Pfeiffer syndrome, which often have problems with the nervous system. In both cases the need to perform tracheostomy reaches 100%, while in the cases of Type 3 Pfeiffer syndrome, the mortality reaches 80% and the major causes of death are respiratory obstruction or neurological complications.

SURGICAL REHABILITATION

The general principles of the Pfeiffer syndrome surgical repair are generally the same as for the Crouzon and Apert syndromes, of equivalent severity.

As the clinical picture of each patient varies, it is important that the assessment should be done in an organized center by a group of physicians with specialization and experience in such type of disorders in order to determine the time schedule as well as the necessary surgical procedures for the best possible outcome.