Children's Hospital Colorado

Pfeiffer Syndrome

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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Paige Kack, CPNP

Paige Kack, CPNP

Certified Pediatric Nurse Practitioner, Certified Pediatric Nurse Practitioner

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Chinonye Ihekweazu, MSN

Chinonye Ihekweazu, MSN

Certified Pediatric Nurse Practitioner, Certified Pediatric Nurse Practitioner

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Brent O'Neill, MD

Brent O'Neill, MD

Neurosurgery, Neurosurgery - Pediatric

Thomas Inge, MD

Thomas Inge, MD

Surgery - Pediatric, Surgery

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