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.

What causes Pfeiffer syndrome?

A genetic mutation is the cause of Pfeiffer syndrome. The disease can be passed along from parents to their children.

What are the symptoms of Pfeiffer syndrome?

A high forehead, underdeveloped jaw, beaked nose, wide-set eyes, bulging eyes and dental problems are all possible symptoms of Pfeiffer syndrome. It can also cause problems related to the hands or feet.

What are Pfeiffer syndrome care options?

There is no cure for Pfeiffer syndrome. The individual symptoms can be treated as they occur in order to give individuals with the disease the best quality of life possible. The Craniofacial team at Nicklaus Children’s Hospital has a large experience in treating patients with Pfeiffer Syndrome.  Care is individualized for each child to maximize aesthetic and functional outcomes.

Reviewed by: Chad A Perlyn, MD

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

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