Towards consensus on the treatment of congenital craniofacial conditions: the discussion section of a doctoral thesis

Abstract

Background: Congenital craniofacial conditions are a diverse group of rare and complex disorders, leading to significant functional and psychosocial challenges. Their rarity and variability hinder research and clinical standardisation, resulting in substantial practice variation across centres. International collaboration and high-quality evidence are therefore essential to improve and converge care for affected individuals. This article presents the discussion section of a doctoral thesis that addressed these challenges through multiple methodological approaches, the majority of which were conducted within the European Reference Network for Rare and Complex Craniofacial Conditions (ERN CRANIO). Methods: The studies combined systematic reviews, multicentre cohort analyses, expert consensus and registry development to advance understanding and care for three conditions: unilateral cleft lip and palate (UCLP), Treacher Collins syndrome and Miller syndrome. Results: The thesis provides evidence supporting early hard palate closure in UCLP, contributing to improved speech outcomes and fewer oronasal fistulas without increasing surgical burden. For facial dysostosis syndromes, the European clinical consensus statement and the establishment of the first international registry provide a foundation for more standardised multidisciplinary care and collaborative research. The systematic review on Miller syndrome clarifies its phenotypic spectrum and aids differential diagnosis with other syndromes. Conclusions: Through its comprehensive and collaborative approach, this thesis promotes the convergence of care for congenital craniofacial conditions in Europe. It highlights the importance of methodological rigour, standardisation and international collaboration to achieve evidence-based and equitable care for these rare and complex disorders.