Childen's Hospital Boston 300 Longwood Avenue
Boston, MA 02115
(617) 355-6000
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My Child Has:
Pfeiffer Syndrome
Programs that treat this condition or perform this procedure
Craniofacial Anomalies Program  
What is Pfeiffer syndrome?
Pfeiffer syndrome is a rare genetic disorder involving abnormal growth of the skull and the face, as well as malformations of the fingers and toes.

Physical characteristics of this syndrome include:

  • Tall skull and high prominent forehead
  • Sunken mid-face
  • Prominent eyes - appear bulging out and may be spaced widely apart
  • Underdeveloped upper jaw and protruding lower jaw
  • Broad, short thumbs and large toes
  • Possible webbing of hands and feet
Most children with Pfeiffer syndrome are of normal intelligence.
What causes Pfeiffer syndrome?
Some cases of Pfeiffer syndrome are the result if an inherited gene. In cases where there is no family history of Pfeiffer syndrome, the cause is thought to be a genetic mutation.

No known food, medication, or activity during pregnancy can cause Pfeiffer syndrome.

What are the chances of having a child with Pfeiffer syndrome?
Pfeiffer syndrome occurs is approximately one in 25,000 births.

If one parent has Pfeiffer syndrome, there is a 50% chance that his/her child will be born with the disorder.

Unaffected parents who have one child with Pfeiffer syndrome rarely give birth to a second child with the condition.

What problems are associated with Pfeiffer syndrome?
In addition to the physical characteristics common to the condition, children with Pfeiffer syndrome may have the following problems:
  • Dental problems due to crowded teeth
  • Poor vision
  • Hearing loss in about 50% of children
How is Pfeiffer syndrome diagnosed?
If Pfeiffer syndrome is suspected in the fetus during pregnancy, genetic testing can be done to confirm the diagnosis.
How is Pfeiffer syndrome treated?
Depending on the severity of the disorder, a child with Pfeiffer syndrome may require some or all of the following surgeries:
  • Surgery to re-shape the skull
  • Jaw surgery
  • Surgery to correct eye problems
  • Orthodontics, to straighten the teeth
What is the prognosis for children with Pfeiffer syndrome?
With the proper treatment, most children with Pfeiffer Syndrome grow up to have completely normal intelligence and normal lives.
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