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.

Jennifer Gaber, CPNP-PC

Jennifer Gaber, CPNP-PC

Certified Pediatric Nurse Practitioner

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Katie Flynn, CPNP-AC

Katie Flynn, CPNP-AC

Certified Pediatric Nurse Practitioner

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Luis De La Torre-Mondragon, MD

Luis De La Torre-Mondragon, MD

Surgery - Pediatric

Christy Kaczmarek, PA-C

Christy Kaczmarek, PA-C

Physician Assistant

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