medwireNews: The UK Achondroplasia Network has developed consensus guidelines on multidisciplinary care of children and young people (CYP) with achondroplasia from diagnosis until adulthood.
“These are the first UK-specific multidisciplinary recommendations for the care of CYP with [achondroplasia]”, report Moira Cheung (Great Ormond Street Hospital, London) and colleagues in Archives of Diseases in Childhood.
“Aligned with international best practices and tailored to UK healthcare systems, they support anticipatory care, promote independence and enhance health and psychosocial outcomes. The guidelines offer a foundation for service planning, standardisation and equitable care.”
A multidisciplinary group of 27 UK healthcare professionals and two patient advocacy groups initially mapped out an achondroplasia care pathway in 2018. Following the publication of several sets of international guidelines, 25 experts from the UK Achondroplasia Network, representing 16 different specialities across the country, reviewed the pathway and developed an age-specific framework.
As part of a modified Delphi process, the experts were asked at a meeting to rate their level of agreement with 20 proposed statements, where “agree” or “strongly agree” by at least 80% of participants was considered consensus. Over two rounds of voting, 17 of the statements were refined, created or removed to give a final 24 statements, all of which achieved consensus, with 21 reaching 100% agreement.
Key multidisciplinary guidelines outlined
The statements focus on the specialist medical monitoring requirements for each developmental stage, namely infancy (<12 months), preschool (1–4 years), primary school (5–11 years) and secondary school (11–18 years), the authors explain.
The first four statements recommend that prenatal indications of achondroplasia should lead to specialist maternal care with counselling and referrals to foetal medicine and clinical genetics for diagnosis. Mothers with achondroplasia or carrying babies with the condition should receive consultant care and be advised to undergo elective caesarean section due to cephalopelvic disproportion and foetal macrocephaly, respectively. Parents should receive advice on handling, positioning, life support and car seat use before leaving hospital.
The remaining statements emphasize the importance of multidisciplinary care from healthcare professionals with experience of achondroplasia and access to tertiary services, with involvement from allied specialists such as occupational therapists, physiotherapists, clinical nurse specialists and psychologists.
“Shared care with a named consultant within a local paediatric service is essential to aid holistic care”, the guideline advises.
Recommendations detail expected frequency and timing of appointments for growth measurements and assessments for potential age-related complications, as well as the importance of immediate assessment for changes in neurological function, such as gait or incontinence.
Achondroplasia care appointments should include:
- magnetic resonance imaging to identify foramen magnum stenosis and hydrocephalus;
- respiratory polysomnography for sleep apnoea;
- audiology;
- review by an orthopaedic surgeon;
- dental and orthodontic assessments;
- psychological support;
- genetic counselling when approaching adulthood and
- transition to adult services with a specialist in rare bone disorders.
The guidelines advise that “[n]ew medical technologies should be prescribed under the care of a specialist achondroplasia centre” and emphasize that CYP with achondroplasia and their families “should be informed about available novel medical technologies, with written information provided, and be informed about research opportunities.”
Finally, Cheung et al say that “[t]he UK Achondroplasia Network also recommends that a minimal dataset is nationally agreed and collected among prescribing units to monitor the impact of new technologies.”
They conclude: “This would support real-world data collection to inform long-term efficacy and safety of technologies within the UK context.”
By Lynda Williams
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