Pfeiffer Syndrome

Category:
Genetic Disorder

Prevalence:
In The US: About 3,200 people.

Also Called:
Noack Syndrome

Resources:
Mayo Clinic

Genetics Home Reference

WebMD

The National Craniofacial Association

 

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Pfeiffer syndrome is a rare genetic disorder characterized by premature fusion of certain skull bones (craniosynostosis), and abnormally broad and medially deviated thumbs and great toes. Most affected individuals also have an abnormal midface, with protruding eyes and conductive hearing loss. Three forms of Pfeiffer syndrome are recognized, of which types II and III are the more serious.

Pfeiffer syndrome is an autosomal dominant condition associated with mutations in the fibroblast growth factor receptor-2 (FGFR2) gene and the fibroblast growth factor receptor-1 (FGFR1) gene.

Pfeiffer syndrome is now known to be a member of a group of conditions caused by mutations in the FGFR genes including Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans and Muenke syndrome. (For more information on these conditions, please see the Related Disorders section below.

Pfeiffer Syndrome In The News

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Read More    published: 10/22/2018

Auckland Baby With Rare Genetic Disorders Will Be 'Lucky' To Make Second Birthday

Read More    published: 08/12/2018

A Baby Girl's Battle to Beat 1 in 100,000 Rare Disease Pfeiffer Syndrome

Read More    published: 06/14/2017

Incredibly Rare Condition Leaves 16 Month-Old Girl's Skull and Arm Fused Together

Read More    published: 10/27/2016

Our Health Experience: ‘Finn Might Look Different, But He is Just a Little Boy Who Wants to Play’

Read More    published: 06/09/2015

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