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The Patient Encyclopaedia is comprised of a set of information sheets produced by Orphanet and peer-reviewed by disease experts and dedicated patient organisations.
They are not yet available in all of the six Orphanet languages or for all rare diseases.

To view a specific disease profile, click on the first letter of the disease name.

Downloading of the Patient Encyclopaedia texts requires the installation of Acrobat Reader.

To install it, download Acrobat Reader


Information in Orphanet is updated on a regular basis.
It may happen that new discoveries are made in between updates and do not yet appear in the disease profile. The date of the last update is always indicated. Professionals are always encouraged to consult the most recent publications before making any decisions based on the information provided.

These general texts may not apply to specific cases, due to the extensive variability of disease expression. Some information may look disturbing. It is of the utmost importance to verify if the provided information is relevant or not to a specific case.