The Development of a European Registry for Facial Dysostosis Syndromes: A Delphi-Guided Approach.

ABSTRACT: Facial dysostosis syndromes (FDS) are rare congenital conditions that significantly impact facial function and appearance. At the time of this writing, standardised monitoring protocols for FDS are lacking, hampering research, and evidence-based care. Thus, a comprehensive dataset was developed within the European Reference Network for Rare and Complex Craniofacial Anomalies (ERN CRANIO). Candidate data elements were identified through a systematic literature review (1985-2024) and supplemented with elements from existing ERN CRANIO datasets and expert panel suggestions. A Delphi survey was then conducted among 61 clinicians and 3 patient representatives to assess each element's relevance and reliability using a 9-point Likert scale. A subsequent hybrid consensus meeting with the expert pa

SUBMITTER: van Roey VL 

PROVIDER: S-EPMC12537031 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature