Children's Hospital Colorado
Craniofacial Center

Pfeiffer Syndrome

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What is Pfeiffer syndrome?

Pfeiffer syndrome is a rare congenital condition that occurs in 1 of 100,000 newborn babies with a 1:1 male to female ratio. It can be inherited in an autosomal dominant fashion from a parent with Pfeiffer syndrome, or be due to a fresh genetic mutation. A parent with Pfeiffer syndrome has a 50% chance of passing the condition to a child. The diagnosis is associated with increasing paternal age. The mutation occurs in the gene for fibroblast growth factor receptor 1 or 2 (FGFR 1 or 2).

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Get to know our pediatric experts.

Max Mitchell, MD

Max Mitchell, MD

Cardiac Surgery, Thoracic Surgery

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Aaron Mason, MD

Aaron Mason, MD

Pediatrics, Plastic & Reconstructive Surgery

Christine Zarlengo, CPNP-PC

Christine Zarlengo, CPNP-PC

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David Partrick, MD

David Partrick, MD

Surgery - Pediatric, Surgery