Pfeiffer Sydrome: Physical Traits
The Eyes and Midface:
Children with Pfeiffer syndrome seem to have big eyes. In fact, 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. Occasionally, when children
with severe proptosis cry, their eyelids can get temporarily caught behind
the eyeball. 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), which can diminish a child's ability to see.
It is not clear what causes this optic nerve atrophy, but it may be related
to chronically elevated intracranial pressure.
The eye problem most commonly associated with Pfeiffer 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 this is
not done, children learn to stop seeing out of one eye ("amblyopia") in
order to prevent this 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.
The area 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 very
well, it is usually surgically moved 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
[ ]).
Other Pfeiffer Syndrome Physical Traits:
Skull | Brain
| Ears | Mouth
| Hands & Feet
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Syndrome
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