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.
See full list of 16 symptoms of Pfeiffer syndrome
Read more about complications of Pfeiffer syndrome.
Research the causes of these diseases that are similar to, or related to, Pfeiffer syndrome:
Medical research articles related to Pfeiffer syndrome include:
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Visit our research pages for current research about Pfeiffer syndrome treatments.
Types of Pfeiffer syndrome
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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
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