What is Pfeiffer Syndrome

Pfeiffer Syndrome, like the other craniosynostotic syndromes, is caused by a genetic mutation. The physical manifestations of Pfeiffer Syndrome match those of Crouzon's and include broad thumbs and toes.      

Pfeiffer's Syndrome patients have the following abnormalities:

• Craniosynostosis most often of the coronal and lambdoid, and occasionally sagittal sutures.
• Underdeveloped midface with receded cheekbones or exophthalmos.
• Broad thumbs and big toes.

Some other features commonly seen in these patients with Pfeiffer Syndrome are visual disturbances related to an imbalance of the muscle that move the eyes and hearing loss due to recurrent ear infections. The mental capacity of Pfeiffer patients is usually in the normal range, however some mental delay has been reported in other patients with Pfeiffer Syndrome.

Symptoms

• Skeletal (limb) abnormalities
• Early closure of sutures between bones of the skull, noted by ridging along sutures
• Large or late-closing soft spot on a baby's skull
• Severe under-development of the mid-face
• Prominent or bulging eyes
• Fusion or severe webbing of the 2nd, 3rd, and 4th fingers, often called "mitten hands"
• Webbing or fusion of the toes
• Possible, slow intellectual development (varies from person to person)
• Short height
• Hearing loss
• Frequent ear infection

How common is Pfeiffer syndrome?

Many doctors believe it is caused by changes of the gene(FGFR1 or FGFR2) and caused of the changes is unknown. In addition, these genes play role in signaling to the cell to respond to environment. The case of Pfeiffer syndrome probably less than 15 in every 1 million birth.

The child suffer the Pfeiffer syndrome normally may have the following problems:

• Dental problems due to crowded teeth and often a high palate.
• Poor vision.
• 50% of children have hearing loss.