What is Pfeiffer syndrome?

Also known as: Acrocephalosyndactyly–Pfeiffer–type

Pfeiffer syndrome is a genetic disorder characterized by early fusion of the bones of the skull (craniosynostosis). This in turn leads to abnormalities of the head and face. The disease is present at birth, and symptoms can persist and worsen as a person ages.

Pfeiffer syndrome was first described in 1964 by Dr. Rudolph Arthur Pfeiffer. This condition is also called acrocephalosyndactyly –Pfeiffer type which means “tall” head with variable fusion of the fingers.

Reviewed by: Chad A Perlyn, MD

This page was last updated on: 1/29/2019 3:21:13 PM

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