Pfeiffer Sydrome: Physical Traits

The Eyes and Midface:
Children with Pfeiffer syndrome appear to have big eyes, but actually the eyeballs are of normal size.  The problem is that the bones surrounding the eyes (the orbits) cannot grow forward in a normal way.  In addition, the eyelid openings usually slant downwards.  Some children’s eyes can “bulge” so far forward (this condition is called proptosis, or exophthalmos) that the cornea of the eye can become exposed, resulting in a dry eye that can become scarred.  Occasionally, when children with severe proptosis cry, their eyelids can get temporarily caught behind the eyeball (see Initial Treatment).  This condition obviously requires immediate treatment either with a tarsorrhaphy (sewing the outside part of the upper and lower eyelids together) or by surgically moving the bones of the orbits forward (this is usually done at the same time that the forehead is brought forward).  Some children with Pfeiffer syndrome may also develop optic nerve atrophy (weakening, or wasting of the nerve that transmits sight), which can diminish a child’s ability to see.  It is not known for sure what causes this optic nerve atrophy, but it is likely related to chronically elevated intracranial pressure.

Another common eye problem with Pfeiffer syndrome is an imbalance of the muscles that move the eye (called “strabismus”).  Sometimes, one of the six muscles that move the eye may be completely absent.  Many children with Pfeiffer syndrome require eye muscle balancing surgery.  If the eyes do not line up in a straight forward gaze, children learn to stop seeing out of one eye (“amblyopia”) in order to prevent seeing with double vision.

The mid face is the part of the face that extends from underneath the eyes and across the top of the nose, down to the teeth of the upper jaw.  This part of the face is always small (also called “hypoplastic,” meaning lack of growth) in Pfeiffer syndrome.  The deepest part of the face is usually centered at the top of a short nose.  Because the mid-face cannot grow forward in a normal way, it is usually necessary to surgically move the mid face forward a couple of times over the child’s lifetime (see treatment, below).  From measurements taken from our center in Dallas, it appears that the face in children with Pfeiffer syndrome grows only about 1/3 normal speed, and there is additional evidence to suggest that all forward growth stops about age 9 (see publications #24, 2005).