Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Pfeiffer syndrome also affects bones in the hands and feet. Pfeiffer syndrome affects about one in 100,000 individuals.
Many of the characteristic facial features of Pfeiffer syndrome result from premature fusion of the skull bones. Abnormal growth of these bones leads to bulging and wide-set eyes, a high forehead, an underdeveloped upper jaw, and a beaked nose. More than half of all children with Pfeiffer syndrome have hearing loss; dental problems are also common.
Characteristics of Pfeiffer syndrome include the following:
- Short and cone shaped head
- Wide set and protruding eyes
- Beaked nose
- High arched or cleft palate
- Hearing loss