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Pfeiffer syndrome is a complex genetic disorder that affects your child’s head, face, hands and feet. Clinical features vary for different children and range from mild to severe. Pfeiffer syndrome may include:
Other features of the condition may include:
The different forms of Pfeiffer syndrome are classified into the following types:
Pfeiffer syndrome is caused by a specific mutation (change) in a gene called fibroblast growth factor receptor (FGFR 1 or FGFR2). This gene is also involved in other craniofacial anomalies such as Crouzon syndrome and Apert syndrome.
Experts do not know the exact cause of these gene mutations.
Most parents who have a baby with Pfeiffer syndrome have normal genes. However, children with Pfeiffer syndrome can pass the gene on to their children. A parent with Pfeiffer syndrome has a 50 percent chance of having a baby who also has Pfeiffer syndrome. If you have Pfeiffer syndrome and wish to have children, our geneticist can meet with you to discuss the risks and help you make a thoughtful, informed decision.
For an appointment with the Cleft and Craniofacial Center, more information or to obtain a second opinion for your child, please call us at 617-355-6309 or email our program coordinator, firstname.lastname@example.org.
For families residing outside of the United States, please call Boston Children's International Health Services at +1-617-355-5209.
We are grateful to have been ranked #1 on U.S. News & World Report's list of the best children's hospitals in the nation for the third year in a row, an honor we could not have achieved without the patients and families who inspire us to do our very best for them. Thanks to you, Boston Children's is a place where we can write the greatest children's stories ever told.”