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Pfeiffer Syndrome

Pfeiffer syndrome is a genetic disorder associated with premature fusion of the sutures that connect certain skull bones. This premature fusion prevents the skull bone from growing normally causing deformities of the head and face. Sutures are the specialized joints between skull bones that enlarge during the brain's normal growth. Pfeiffer syndrome can also affect the bones in the hands and feet. It occurs in 1 in 100,000 people.


Abnormal bone growth in the skull can result in bulging and wide-set eyes, a high forehead, an underdeveloped upper jaw and a beaked nose. More than half of these children will have hearing loss and some may also have poor vision and dental problems.

If the hands and feet are affected, the thumbs and great toes may be wide and will bend away from the other digits. Also common are short fingers and toes, webbing or fusion between the digits.

Pfeiffer syndrome is categorized into three subtypes. Type 1 or classic Pfeiffer syndrome includes the symptoms described above with normal intelligence. Type 2 and 3 are more severe forms of the syndrome and can involve delayed development and other neurological problems.

What causes Pfeiffer syndrome?

Pfeiffer syndrome is believed to be caused by a sporadic gene mutation is not related to any lack of discretion on the mother's part. If a parent has Pfeiffer syndrome, there is a 50 percent chance that your children will be born with the condition.


For the best results, your child should be evaluated and treated by our experienced team of craniofacial specialists. How many and what types of surgery will be required depend upon the severity of your child's condition. You child may need the following surgeries: frontal orbital advancement to allow the skull to grow properly and to increase the size of the eye sockets; jaw surgery; orthodontic work; and surgical advancement of the mid-face.

Frontal orbital advancement involves opening the skull and reshaping the bones around the orbit of the eye to correct the deformity. The new position of the orbits is held fixed by bioabsorbable plates and screws, which allow for expansion of the bones in the eye sockets. A similar procedure may be performed on the forehead.