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Pfeiffer syndrome is a rare genetic condition affecting primarily the skull and facial bones. It leads to craniosynostosis and underdevelopment of the facial bones. Studies have shown it occurs in approximately one in 100,000 births.
Pfeiffer syndrome is caused by gene mutations. In most cases, these mutations arise randomly. We don’t fully understand what causes this. However, it doesn’t appear that the mutation occurs as a result of something either parent does or fails to do. In fact, most parents who have a baby with this condition have normal genes.
Children can pass the gene on to their children, however. Only one copy of the gene needs to be passed on for the new baby to have Pfeiffer syndrome. A parent this condition has a 50-50 chance of having a baby that also has it. Anyone with Pfeiffer syndrome who wishes to have children should consider meeting with a geneticist to discuss the risks and make a thoughtful, informed decision.
The skull is comprised of a number of plates of bone, joined together at specialized joints called sutures. These sutures act like expansion joints, allowing the skull to get larger as your child grows and as the developing brain pushes outward. Some of these sutures fuse prematurely, preventing the skull from growing normally. Since the brain can’t push all parts of the skull outward as it grows, the brain instead pushes outward and upward in parts of the skull where these expansion joints are functioning. This leads to an abnormally shaped skull.
Children also have underdeveloped bones in the part of the face between the eyes and the mouth. The bones of the midface don’t grow forward as they should. The combined effect of the slowed growth of the forehead and midface makes the child’s eyes appear large and prominent. In fact, the eyes are normal-sized , but they aren’t as well protected and surrounded by bony structures as they should be, making them appear large.
Additional characteristics include obstructive sleep apnea (due to the underdeveloped midface), conductive hearing loss, a higher incidence of reflux disease, developmental delays and a higher incidence of abnormalities of the cervical spine.
Many children may also develop Chiari malformations. A Chiari malformation occurs when a part of the brain gets pushed downward through the hole in the base of the skull. This can cause a type of sleep apnea called "central sleep apnea,” leading to decreased oxygen reaching the brain, particularly at night. This may hurt brain development. Children should be monitored closely for the development of a Chiari malformation.
Most often, Pfeiffer syndrome is diagnosed at birth based on the characteristic appearance of the face and skull. The suspected diagnosis is confirmed by genetic testing.
Treatment of children is complex. It’s aimed at correcting the skull and midface abnormalities as well as the obstructive sleep apnea.
Midface surgery may be needed as your child gets older to fully treat obstructive sleep apnea or allow for eventual removal of a tracheostomy placed in infancy. Ultimately, the goal in all of these interventions is to ensure a good airway so your child can get enough oxygen to help her develop to her fullest potential.