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Orphanet provides access to a Professional Encyclopaedia, a set of expert-authored and peer-reviewed articles. This encylopaedia includes: review articles, clinical practice guidelines, diagnostic criteria, guidance for genetic testing, Practical Genetics, clinical genetics review, emergency guidelines, anaesthesia guidelines, disability factsheets, and summary information on the disease in a language other than the 7 languages of Orphanet.

Enter your requested disease name to access this information.


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. Professionals are always encouraged to consult the most recent publications before making any decisions based on the information provided. These texts are not yet available in all of the 7 Orphanet languages or for all rare diseases.

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.

Information in Orphanet is not intended to replace professional health care. Orphanet cannot be held responsible for harmful, truncated or erroneous use of any information found in the Orphanet database.