About Us
The EAF has expanded to the IAF!
We are very excited to introduce the International Achondroplasia Forum!
Thanks to the continued support of our members and sponsors, the European Achondroplasia Forum has gone global, enabling us to expand our Steering Committee to include expert colleagues from Brazil, Argentina, Australia, Japan and the US, as well as expanding our focus to include related conditions, further to our work in achondroplasia.
The aim of the IAF is to improve overall care for individuals with achondroplasia and related conditions through establishing and promoting collaboration between experts internationally, global sharing of best practices, development of recommendations and supporting the development of educational programmes.
If you would like to be kept informed of upcoming IAF events please click the button below:
Orthopaedic interventions in achondroplasia: Identifying optimal care for improved outcomes
This virtual workshop took place on Tuesday 29th October and included in-depth discussion on six guiding principles for lead clinicians, addressing key orthopaedic interventions. Chaired by Dr Philip Kunkel, our expert faculty explored orthopaedic interventions in achondroplasia and how we can optimise care to improve outcomes for our patients. Over the course of this highly interactive workshop, the guiding principles were presented, discussed, their content and wording amended thanks to the input of the attendees, and voted on.
View the EAF’s first poster! European Achondroplasia Forum: Practical Considerations for Following Adults with Achondroplasia – A Patient-held Checklist
We are thrilled to share the first poster developed by the EAF, presented by Dr Svein Fredwall at the 16th ISDS meeting in Madrid, Spain.
This poster presents a patient-held checklist, developed by the EAF, to allow adults with achondroplasia to manage their own care with their primary care provider.
We’d like to thank everyone who took the time to come and view the poster and chat with Dr Fredwall. If you haven’t yet had a chance to view the poster, it is available to view and download below!
Assessing Outcomes in a New Era of Achondroplasia Treatment
Workshop Video and Minutes Now Available!
This virtual workshop took place on Tuesday 9th April, and was our most successful workshop to date with 63 attendees! Chaired by Steering Committee member, Dr Melita Irving, we explored whether current outcome measures for achondroplasia treatment were still fit for purpose in the era of therapeutic management. Over the course of this interactive workshop, we reviewed current outcome measures and their suitability, explored the real-world experience of therapeutic management of achondroplasia and reviewed therapeutic options in development.
EAF Publication
Practical Considerations for Following Adults With Achondroplasia
Providing consistent multidisciplinary care to adults with achondroplasia remains a challenge. Many people are lost to follow-up after the transition from paediatric to adult care, and there is no standardised approach for management in adults, despite the recent availability of international consensus guidelines. Our latest publication includes the development of a patient-held consultation guide to enable adults with achondroplasia to manage their own care with their primary care provider. The guide highlights key symptoms of spinal stenosis and obstructive sleep apnoea and acts as a framework to support individuals and their primary care provider in completing routine reviews.
If you would like to be part of future EAF discussions, please register to keep informed of our upcoming meetings
Understanding Sleep Studies in Achondroplasia: Which? When? Why?
Workshop Video and Minutes Now Available!
Our virtual workshop took place on the 24th October. Chaired by the very experienced Professor Brigitte Fauroux, we explored the topic of sleep studies in achondroplasia. This interactive workshop described the different types of sleep-disordered breathing affecting people with achondroplasia, types of sleep studies, the pros and cons of screening vs assessment based on clinical indications, and the therapeutic options in children and adults.
EAF Publication
European Achondroplasia Forum Guiding Principles for the Detection and Management of Foramen Magnum Stenosis
Foramen magnum stenosis is a severe and life-threatening complication of achondroplasia, and while EAF and international recommendations advocate for close monitoring, there is no clear guidance in the literature on the timing of regular monitoring or which assessments should be carried out. Our latest publication outlines six principles for the detection and management of foramen magnum stenosis, providing practical guidance regarding screening, referral and decision-making for decompression surgery.
If you would like to be part of future EAF discussions, please register to keep informed of our upcoming meetings
Advances in Achondroplasia Conference 2023
Managing Achondroplasia: Partnership, Practicalities, Progress
21-22 April 2023, Sheraton Frankfurt Airport Hotel
We were thrilled to be able to bring together a wide range of specialists in managing achondroplasia, key members of the multidisciplinary teams and representatives from patient advocacy groups across Europe to focus on achondroplasia.
Thank you to our wonderful faculty and to everyone who attended, both in person and online, for making the conference so interactive and engaging. We look forward seeing you at our next EAF event!
Slides from the conference are available for you to download on the Conference page.
EAF receives Digital Health Gold Award!
The EAF have won a Digital Health Gold Award for the Optimising Care of Adults with Achondroplasia manuscript. These American-based global awards recognise the best digital health resources developed for consumers and health professionals.
Svein Fredwall, Vice President and lead author on the paper, commented: “On behalf of the EAF, we are excited that our work has been recognised. This paper demonstrates the challenges and lack of standardised approach regarding transition from paediatric to adult care and follow up of adults, which is under-communicated and poorly understood. It has been important for the EAF to involve both the patients’ voice as well as the HCP’s, so we are particularly delighted that the Digital Health Awards recognise the importance of this work. This is great motivation for continuing with the EAF’s work addressing and overcoming barriers and improving the standard of care for adults with achondroplasia.”
The EAF website also received a Merit in the Digital Health Awards.
Two Manuscripts Published!
Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations.
Ensuring timely diagnosis and referral of achondroplasia patients is the essential first step in optimising care. The EAF undertook an audit of what is happening today and have developed recommendations on best practice. You can read these in our publication in Orphanet Journal of Rare Diseases by clicking the link below. You can use these recommendations to help shape best practice for your patients.
If you would like to join our discussions, please register on the site to keep informed of our upcoming meetings.
Optimising Care and Follow-up of Adults with Achondroplasia
The EAF guiding principles of management advocate for management of achondroplasia by a multidisciplinary team through the life stages, however little is known about the care that adults with achondroplasia receive, or the process of transition from paediatric to adult services. Read our publication to improve your understanding of the key barriers to optimal care in this age group, and use the results of our exploratory surveys to inform your practice. If you would like to be part of future EAF discussions, please register to keep informed of our upcoming meetings
Developments in Achondroplasia
Developments in Achondroplasia are workshops that focus on particular areas of achondroplasia management. Experts are invited to lead the discussions and share their knowledge and experience, and the sessions are open for all to attend. Previous workshops have included analysis of survey data, and our findings have been developed into manuscripts for publication. We’re delighted to be able to share our discussions with you.
See below for our most recent workshop.
Clinical Management Challenges in Infants and Young Children with Achondroplasia
Minutes and Recording Now Available!
Our workshop was a great success with insightful presentations and discussions. We greatly valued the input from both healthcare professionals and patient representatives, giving us a full picture of the challenges, outcomes of importance and level of alignment with recommendations in this age group. You can now watch all our discussions and download the minutes from the workshop.
Detection and Management of Foramen Magnum Stenosis in Achondroplasia
This interactive and well-attended Developments in Achondroplasia workshop saw consensus reached on six guiding principles for the detection and management of foramen magnum stenosis. The recording of our discussions and the minutes from the meeting are now available for you to view.
Useful links:
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The IAF is supported by educational grants from:
