What is Pfeiffer syndrome?

What is Pfeiffer syndrome?

• Pfeiffer syndrome: A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity.

Pfeiffer syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Pfeiffer syndrome, or a subtype of Pfeiffer syndrome, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Pfeiffer syndrome as a "rare disease".
Source - Orphanet

Pfeiffer syndrome: Introduction

Types of Pfeiffer syndrome:

Broader types of Pfeiffer syndrome:

• Heritable Disorders of Connective Tissue
• more types...»

How many people get Pfeiffer syndrome?

Prevalance of Pfeiffer syndrome: 1 per 100,000 people suffer from Pfeiffer syndrome, Genetics Home Reference website
Prevalance Rate of Pfeiffer syndrome: approx 1 in 100,000 or 0.00% or 2,720 people in USA [about data]

How serious is Pfeiffer syndrome?

Complications of Pfeiffer syndrome: see complications of Pfeiffer syndrome

What are the symptoms of Pfeiffer syndrome?

Symptoms of Pfeiffer syndrome: see symptoms of Pfeiffer syndrome

Complications of Pfeiffer syndrome: see complications of Pfeiffer syndrome

How is it treated?

Treatments for Pfeiffer syndrome: see treatments for Pfeiffer syndrome
Research for Pfeiffer syndrome: see research for Pfeiffer syndrome

Name and Aliases of Pfeiffer syndrome

Main name of condition: Pfeiffer syndrome

acrocephalosyndactyly, type V, Noack syndrome, ACS5, Pfeiffer type acrocephalosyndactyly, Acrocephalosyndactyly, type 5

Acrocephalosyndactyly syndrome type 5, Noack's syndrome Source - Diseases Database

ACS5, Acrocephalosyndactyly, type 5, Pfeiffer type acrocephalosyndactyly
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Research the causes of these diseases that are similar to, or related to, Pfeiffer syndrome:

• Genetic disorder
• Type 1 pfeffer syndrome
• Type 2 pfeiffer syndrome
• Type 3 pfeiffer syndrome
• Craniosynostosis

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