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

Area of Science:

• Genetics and Rare Diseases
• Craniofacial Anomalies
• Clinical Data Management

Background:

• Facial dysostosis syndromes (FDS) are rare congenital conditions with significant functional and aesthetic impacts.
• Lack of standardized monitoring protocols hinders FDS research and evidence-based clinical practice.
• The European Reference Network for Rare and Complex Craniofacial Anomalies (ERN CRANIO) initiated the development of a comprehensive dataset.

Purpose of the Study:

• To develop the first international registry dataset for facial dysostosis syndromes.
• To establish standardized data collection elements for FDS research and clinical care.
• To facilitate collaborative research and cross-center comparisons for rare craniofacial anomalies.

Main Methods:

• Systematic literature review (1985-2024) to identify candidate data elements.
• Supplementation with existing ERN CRANIO data and expert panel input.
• A Delphi survey involving 61 clinicians and 3 patient representatives, followed by a hybrid consensus meeting.

Main Results:

• A total of 110 data elements were included in the final FDS dataset.
• Elements are organized into Level 1 (patient-reported outcomes) and Level 2 (clinical characteristics, treatment, outcomes, diagnostics).
• 98 out of 200 initial elements were strongly recommended following the Delphi survey.

Conclusions:

• The developed dataset represents the first international registry for facial dysostosis syndromes.
• This registry holds significant potential for advancing collaborative research and improving patient care globally.
• Real-world implementation is crucial for evaluating feasibility and guiding future dataset refinements.