Pfeiffer Sydrome: Physical Traits

The Skull:
Children born with Pfeiffer syndrome share some similarities to those born with Apert, or Crouzon in that the skull and facial sutures are either fused at birth, or fuse early in childhood. Most parents will notice that when their child is born, his or her eyes look larger than other children, and the eyelid openings may slant downwards. These changes are the result of the bones of the skull and face, not being able to grow forward in a normal way. The skull is made up of different bones, and the junctions where these bones meet are called sutures (go to Craniosynostoses to see a picture of these sutures). In Pfeiffer syndrome at least two of these sutures (called the coronal sutures), running from ear to ear across the top of the head, are fused shut. There is a right and left suture, with the soft spot, or fontanelle, in between. With these sutures fused shut, as the brain grows, it cannot "push" the forehead forward, or the back of the head backwards. Instead, the brain grows upward, making the head taller. As the baby grows, the forehead slowly gets taller (and wider). Some children with Pfeiffer syndrome (Type II) will have most all of the sutures of the skull fused shut resulting in a skull which has three prominences, one on the top and one on each side of the head, resulting in a "cloverleaf" shape, or "Kleeblattschädel." With the more severe Type III Pfeiffer, the fusions of the skull probably occur very early in-utero, and the babies eyes will be very prominent; sometimes, so far in front of the skull that the eyelids may not be able to close.

Other Pfeiffer Syndrome Physical Traits:
Brain | Eyes & Midface | Ears | Mouth | Hands & Feet
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