Pfeiffer Sydrome: Physical Traits

The Mouth, Palate, and Airway:
One result of the mid face being too small is that the palate, or roof of the mouth, has a very high arch.  This high arch pushes up the floor of the nose, making it very difficult for children to breath through their noses.  Another result of this raised nasal floor is that parents will notice that their toddler’s noses seem to “run” all the time.  This is frequently improved following surgery to the mid face.

The airway in Pfeiffer syndrome is often not normal.  Parents may notice that their children are “noisy breathers,” especially at night.  This may result from a number of factors.  The first, already mentioned, is the small undergrown mid face.  With a small mid face, the nose is also reduced in size; therefore, not as much air can get through.  The roof of the mouth may be lower in the back, almost touching the tongue, making the oral airway smaller.  Sometimes the tongue will be slightly floppier in babies, which allows it to fall back and occlude the airway.  This may be why some Pfeiffer children prefer to sleep on their sides, or stomach. 

The trachea is kept open by C-shaped rings of cartilage, which serve to keep the windpipe open, similar to the rings of metal in the tubing that exits the back of a clothes dryer.  This ring is C-shaped so that when we cough or breath deeply, it can expand.  In Pfeiffer syndrome, we believe that sometimes these rings may not open normally, or in many cases are O-shaped (they start out as a “C,” and then close up to form an “O”).  Finally, the windpipe (trachea) maybe slightly narrowed at one spot; further contributing to a breathing difficulty (in our experience, this is most common in Type II Pfeiffer).  Sometimes this narrowing, which has been noted to occur specifically with Pfeiffer syndrome, will require surgical treatment at a specialized center.  We currently (2009) recommend treatment in Cincinnati for this procedure.

At our center in Dallas, all our Pfeiffer patients who have airway problems undergo an examination of their windpipes (this procedure is called a bronchoscopy, and is frequently performed at the same time as another scheduled procedure, in order to reduce the total number of operations).  Children may also be seen by our pediatric pulmonologist (lung specialist).  We believe that by using certain types of asthma medications, children’s breathing and oxygenation can be improved.  Children should also be routinely followed with sleep studies, often on at least a yearly basis, to measure the amounts of oxygen in their blood.  Children with significant sleep apnea, or low oxygen levels are treated with medications and/or surgery (see below). 

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