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.

Stephanie Fingland, NP

Stephanie Fingland, NP

Certified Pediatric Nurse Practitioner, Certified Pediatric Nurse Practitioner

Patient ratings and reviews are not available Why?

Thomas Pshak, MD

Thomas Pshak, MD

Surgery, Urology

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Jonathan Roach, MD

Jonathan Roach, MD

Surgery - Pediatric, Surgery

Corbett Wilkinson, MD

Corbett Wilkinson, MD

Neurosurgery, Neurosurgery - Pediatric