Standards of care

Clinical guidelines

For some rare or complex conditions, there are no clinical guidelines available at present. For some diseases, these are available but some may require review and revision. There can be significant variability in the quality of existing clinical guidelines.

ERN CRANIO seeks to endorse, develop or revise existing clinical guidelines to ensure clinical recommendations are made available to clinicians, patients and their families/carers based on research of the highest quality. 

Craniofacial Microsomia

ERN CRANIO has developed a European guideline on craniofacial microsomia, which was published in the Journal of Craniofacial Surgery in November/December 2020. 

A version tailored specifically for patients and their families is also available (2021).

Craniosynostosis

ERN CRANIO endorses the updated Dutch guideline on the treatment and management of craniosynostosis (2021) [in English]

A version tailored specifically for patients and their families is available in Dutch. This is currently being translated into English.

Cleft lip/palate

ERN CRANIO endorses the Dutch guideline for 'schisis' (Published in 2017) [The term “schisis” in Dutch encompasses all types of facial clefts, most commonly clefts of the lip and/or palate]

In 2018, this Dutch guideline was translated into English which was funded by ERN CRANIO: English version of the Dutch guideline for 'schisis' 

[The type of cleft is clearly specified where needed as there is no direct English translation for the Dutch word 'schisis']. Click here for more information on this translation work. 

In 2021, this guideline was classified as ‘‘high’’ quality by the Appraisal of Guidelines for Research and Evaluation II criteria (See paper: Clinical Practice Guidelines for the Management of Patients With Cleft Lip and Palate: A Systematic Quality Appraisal Using the Appraisal of Guidelines for Research and Evaluation II Instrument). This paper highlights variability in the quality of existing clinical guidelines for the management of cleft lip and/or palate, with this being the only guideline to be classified as "high" quality using this criteria.

Pierre Robin Sequence

An ERN CRANIO clinical guideline is currently in development.

Patient Journeys

With the support of EURORDIS, ERN CRANIO patient representatives have worked on developing ‘patient journey’ visuals. Creation of these documents asks patient representatives to reflect on their own personal journey with the rare disease they represent, engage with their patient community and map patient/family needs against 'ideal support scenarios’ at each clinical stage. These journeys can be continually reviewed and added to by others in the rare disease community. 

Within ERN CRANIO patient journeys have been developed/are in development for: Cleft Lip/Palate, Pierre Robin Sequence, Craniosynostosis, Genetic hearing loss, Craniofacial microsomia and Treacher Collins Syndrome.

Click here for more information.