This is the case in CDG, where scarcity of expertise is a well-known and far too common cause of late or wrong diagnosis and care. Orphanet (www.orpha.net) is a well-known resource for rare diseases and expertise that makes sure everyone has the same access to information.It has been developed in Europe since 1997 and provides clinical practice guidelines (CPGs). Orphanet has set up a process for choosing CPGs, judging their quality, and sharing them. The goal is to make it easy to find relevant, accurate, and specific advice for managing RDs. For clinical guidelines to be useful and reliable, they must follow rules about how they are made and changed, such as using the best available evidence as a starting point.
Guidelines are tools for practitioners to make informed decisions. And it is recommended that families be aware of the existence of CDG guidelines. We encourage you to share them with your doctors, teachers, and other people who may benefit of this materials:
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