Underdeveloped midface with receded cheekbones or exophthalmos Ocular Proptosis which is a prominence of the eyes due to very shallow orbits. Broad thumbs and big toes. Some other features commonly seen in these patients 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. The cause of Pfeiffer syndrome, like many of the other syndromal craniosynostosis, has been found to be linked to a gene alteration.
Most cases are sporadic and rare.
Usually, the parents are not affected and the risk for future children of that couple is minimal. 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 this syndrome and is repaired as it is with any other cleft patient.