Conclusions

The present recommendations provide a framework for improving diagnosis and management of CdLS. CdLS is a complex disorder, in which many body systems are affected, and it is important that a lead clinician is identified for each patient to ensure coordination of the numerous aspects of care in both childhood and adulthood. The proposed clinical and molecular diagnostic pathways are intended to be universally practical, both in countries with access to modern techniques and in those where this is not yet possible, and they are meant to be cost-effective, avoiding unnecessary diagnostic or management procedures. Still, in some health-care systems and medicolegal environments, the guidelines may need to be adapted. It is important that implementation of the consensus recommendations is accompanied by prospective audits in order to expand the evidence base and allow for future ameliorations of the consensus.