A to Z of syndromes

A-Z of syndromes: Pfeiffer syndrome

Pfeiffer syndrome is a genetic condition thought to occur once in every 100,000 people

Pfeiffer syndrome is a genetic condition thought to occur once in every 100,000 people. There is a trajectory of severity with some children having barely perceptible markers for the syndrome while others are severely affected. If an individual who has the syndrome has children the child will have a 50% chance of being affected.

Characteristics

Pfeiffer syndrome is characterised by craniosynostosis. In Pfeiffer syndrome sutures, that normally fuse in the skull over years when head growth is completed, fuse before birth. Generally, the more sutures that are fused the more severely the infant will be affected.

The face can be affected, with the infant having eyes that are spaced widely apart and the eyes may appear to bulge because the eye sockets are too shallow. The forehead can appear to be high and they may have a narrow beaked

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