The recommendations aim to help provide optimal care to patients. The development of this evidence-based guideline was shaped by real-life patient and family experiences, and it will soon be published open access in the Journal of Craniofacial Surgery.

ERN CRANIO is the European Reference Network for rare and/or complex craniofacial anomalies and ear, nose and throat disorders. The information available for healthcare professionals, patients and their families on these rare and/or complex diseases may be very limited in some EU countries. There may be a lack of clinician awareness and as a result, patients may struggle to obtain an accurate diagnosis and appropriate treatment.

ERN CRANIO seeks to pool together the expertise of its 29 network members (from 11 Member States) to set disease-specific care standards based on high-quality evidence and support the development and/or revision of clinical guidelines for international use.

Craniofacial microsomia (CFM) is estimated to occur in 1:3000 to 1:5000 live births. Whilst CFM is the second most common congenital disorder of the face after cleft lip and palate, there were no (inter)national guideline to guide its clinical management. CFM is also a highly challenging disease to diagnose, treat and monitor due to its wide phenotypic spectrum.

Over the past year, ERN CRANIO clinicians have systematically developed a European clinical guideline on CFM, which incorporates evidence-based recommendations from multiple disciplines to help provide optimal patient care.

The guideline is founded upon real-life experiences of patients and their parents. A survey was completed by patients and their families to help identify the gaps in care provision and the difficulties and challenges they experienced. Their responses helped shape the questions to be addressed in the clinical guideline.

The guideline is soon due to be published open-access in the Journal of Craniofacial Surgery to facilitate dissemination to healthcare professionals around the world who are involved in the care of patients with CFM. Other channels will also be used to ensure accessibility to patients and their families, and a patient-version of the guideline will be developed.