Pfeiffer Syndrome

Background and History: 

This disorder is caused by several mutations that cause severe skull and skeletal deformities.  Mutations in the same gene cause other syndromes such as Crouzon, Apert, and Jackson-Weiss with many overlapping features.  

Clinical Correlations: 

The skull is malformed in a manner that shortens the eye socket and the cheek area of the face is not fully formed.  As a result, the eyes are often prominent and this can interfere with effective blinking which can lead to dry eyes.  The distance between the eyes is often greater than normal.  In a few cases there are other eye problems such as underdevelopment of the optic nerve that connects the eye to the brain.

Hearing loss is common.  The thumbs and great toes are large and broad and in some cases the elbows have limited mobility.  Malformations in the airways can lead to severe respiratory problems.


This is an autosomal dominant disorder with a vertical pattern of inheritance.  Affected parents can pass the single mutation directly to their offspring.  However, many are only mildly affected which sometimes suggests that a new mutation is responsible.  Of course, new mutations can and do occur with a higher risk for this in older men.

Mutations in at least 2 genes have been found in this syndrome.

Diagnosis and Prognosis: 

The diagnosis often requires a team approach consisting of medical geneticists, ophthalmologists, and orthopedists.  Pfeiffer syndrome has been subdivided into at least 3 types, and generally only type 1 is compatible with life to adulthood.  The prognosis is good for such individuals.  However, an eye doctor should be consulted to ensure that dry eyes are adequately treated.  Severe underdevelopment of the midface can sometimes be surgically corrected.  Airway obstruction may require surgical intervention.

Additional Information
Autosomal dominant