Establishing best practice guidelines for rare disorders is difficult. Literature series are often small, and may be biased towards the most severely affected. Information on the natural history of rare disorders over a lifetime is usually incomplete. Reports of treatments and interventions will usually involve only small numbers of patients and short-term follow-up.
For affected people and their families, a related issue is the provision of available information in formats that are useful to both affected individuals and their non-expert care givers.
The DYSCERNE Network of Centres of Expertise in Dysmorphology (www.dyscerne.org) project was funded by the EU (2007-2009). One of the project aims was development of management guidelines for selected rare syndromes. Guidelines included; criteria for diagnosis, information on clinical management at different life stages, and when specialist referral is needed.
Guideline development utilised a modified SIGN (Scottish Intercollegiate Guidelines Network) methodology. The process and outcome will be presented, with particular reference to Neurofibromatosis type 1 and Noonan syndrome.