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The Professional Encyclopaedia is comprised of a set of articles which are expert-authored and peer-reviewed.

There are four categories of articles:
  • Review articles are comprehensive articles summarising the current medical knowledge on a disease.
  • Practical Genetics articles are review articles focusing on genetic knowledge and the patient workup.
  • The Emergency Guidelines are summary recommendations for the management of patients in emergency situations.
  • Good Practice guidelines are summary recommendations for the management of patients, issued by official organisations.

They are not yet available in all of the six Orphanet languages or for all rare diseases.

To view a specific article, access the alphabetical disease list


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 shocking. It is of the utmost importance to check if the provided information is relevant or not to a specific case.

The downloading of some professional texts requires Acrobat Reader.

To install it, download Acrobat Reader