Help

Orphanet provides access to an Encyclopedia made up of informative texts including; articles for general public, guidelines (emergency, anesthesia and clinical practice), disease review articles (general review articles, clinical genetics review and diagnostic criteria), disability fact sheet, guidelines for genetic testing and summary information in different languages. Texts are either produced by Orphanet (summary information, emergency guidelines, disability fact sheets) or produced by other parties and selected for the quality according to standard procedures.

Enter your requested disease name to access this information.

Warning

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.

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 disturbing. It is of the utmost importance to verify if the provided information is relevant or not to a specific case with a medical professional.

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.