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 of where these bones come together are called sutures (go to Craniosynostoses to see a picture of these sutures).  In Pfeiffer syndrome at least two of these sutures (the coronal sutures) running from ear to ear across the top of the head, are fused shut.  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, because the skull has lost its ability to grow forward in a normal way.  Some children with Pfeiffer syndrome (Type II) are born with most of the skull sutures fused shut, which results in a skull which has three prominences, one on the top and one on each side of the head, that resembles a cloverleaf.  With the more severe Type III Pfeiffer, the fusions of the skull sutures probably occur very early in the womb, and most all of the skull sutures are involved. Type III children often have a tall skull, with a depression in the back top part of the skull. We have also noted that in Types II and III, keels of bone will extend from the skull, down into the brain, which makes skull surgery more challenging, and probably best only treated by surgeons with extensive experience in treating Pfeiffer syndrome.