Pfeiffer Syndrome

Description of Pfeiffer Syndrome

Pfeiffer Syndrome, like the other craniosynostotic syndromes, is caused by a genetic mutation. The physical manifestations of Pfeiffer Syndrome match those of Crouzon's and include broad thumbs and toes.

Characteristics of Pfeiffer Syndrome

Pfeiffer's Syndrome patients have the following abnormalities:

Craniosynostosis most often of the coronal and lambdoid, and occasionally sagittal sutures.
Underdeveloped midface with receded cheekbones or exophthalmos.
Ocular Proptosis which is a prominence of the eyes due to very shallow orbits. The patient may have crossed eyes and/or wide-set eyes.
Broad thumbs and big toes.

Some other features commonly seen in these patients with Pfeiffer Syndrome are visual disturbances related to an imbalance of the muscle that move the eyes and hearing loss due to recurrent ear infections. The mental capacity of Pfeiffer patients is usually in the normal range, however some mental delay has been reported in other patients with Pfeiffer Syndrome.

Causes of Pfeiffer Syndrome

The cause of Pfeiffer Syndrome, like many of the other syndromal craniosynostosis, has been found to be linked to a gene alteration. Most cases of Pfeiffer Syndrome are sporadic and rare. Usually, the parents are not affected and the risk for future children to acquire Pfeiffer Syndrome congenitally from that couple is minimal. The offspring of a Pfeiffer Syndrome patient have a 50-60% chance of inheriting the syndrome due to the dominant characteristics of this gene.

Expectations and Treatment of Pfeiffer Syndrome

Children with Pfeiffer Syndrome generally have normal intelligence although occasionally some reduced intellectual capacity can be seen. Because of the underdeveloped midface and high arched palate, nasal airway obstruction is not uncommon. Unusual resonance and speech patterns can develop from either the small nose, the high arched palate, or the malocclusion. A cleft palate can be associated with Pfeiffer Syndrome and is repaired as it is with any other cleft patient. As with other cleft patients, there can be hearing problems due to recurrent ear infections. With proper treatment, these patients can be productive and active members of mainstream society.

Multiple staged surgery is the general treatment plan for patients with Pfeiffer Syndrome. In the first year of life it is preferred to release the synostotic sutures of the skull to allow adequate cranial volume to allow for brain growth and expansion. Skull remodeling may need to be repeated as the child with Pfeiffer Syndrome grows. If necessary, midfacial advancement and jaw surgery can be done to provide adequate orbital volume and reduce the exophthalmos and to correct the occlusion to an appropriate functional position. Although there is a significant malformation of the fingers and toes on patients with Pfeiffer Syndrome, usually these function adequately and do not require the surgical attention of a plastic surgeon hand specialist.

Case Study

Pfeiffer Syndrome
Preoperative frontal view of 5-year-old patient with Pfeiffer's Syndrome. Postoperative frontal view after Lefort III facial advancement with fronto-cranial remodeling. Pre and postoperative lateral views.