Pfeiffer Syndrome: Treatment

Initial Treatment:
The first critical issues for any child born with Pfeiffer syndrome are usually making sure that there are no problems with breathing, and protecting the eyes.  For the more severely affected children (Types II and III), often a tracheostomy is recommended shortly after birth.  For those children who clearly do not require a tracheostomy, I recommend that they go home on an oxygen saturation monitor.  All children also need to be on medication to help reduce gastro-esophageal reflux (GER).  Currently, we recommend all children be placed on Prevacid, whether or not the child has symptoms of GER.  Unrecognized GER can cause infants to stop breathing. 

As for eye protection, early “permanent” tarsorraphies (sewing the upper and lower eyelid together near the outside corners of the eye, which is actually not permanent and is a completely reversible operation) are often needed.  For those children with bulging eyes, until this operation is performed I recommend that parents keep a tube of Lacrilube, or Genteal, ointment at home.  Sometimes when infants with very prominent eyes get upset, the eyeball can push forward and the eyelid can get caught behind the globe. If parents are unable to quickly pull the upper eyelid back over the globe, then they need to put lots of ointment over the entire eye (to prevent drying and scarring) and go to the emergency room immediately, in order to get the eyelid pulled forward and back into a normal position.