Pfeiffer syndrome

Introduction: 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. More detailed information about the symptoms, causes, and treatments of Pfeiffer syndrome is available below.

Symptoms of Pfeiffer syndrome

• Premature skull bone fusion
• Broad thumbs
• Broad toes
• Short thumbs
• Short toes

See full list of 16 symptoms of Pfeiffer syndrome

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Statistics for Pfeiffer syndrome

• Medical statistics for Pfeiffer syndrome
• Prevalence and incidence statistics for Pfeiffer syndrome
• Death and Mortality statistics for Pfeiffer syndrome
• Society statistics for Pfeiffer syndrome

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Definitions of Pfeiffer syndrome:

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