ArticleOrphanet journal of rare diseases2022
Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations.
Article in Orphanet journal of rare diseases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 15 citations in OpenAlex.
- UK consensus guidelines for multidisciplinary care of children and young people with achondroplasia: a modified Delphi process.Archives of disease in childhood · 2026Guideline
- Foramen magnum stenosis, cervicomedullary decompression, and growth in children with achondroplasia: a retrospective cohort study.Orphanet journal of rare diseases · 2026Article
- Longitudinal Observation of Children with Achondroplasia: Findings from a Global Natural History Study (ACHieve).Hormone research in paediatrics · 2026Article
- Achondroplasia and hypochondroplasia in France: a nationwide epidemiological analysis.Orphanet journal of rare diseases · 2025Article
- The Value of Enhancing Sonographic Phenotyping to Improve the Diagnostic Yield of Noninvasive Prenatal Diagnosis (NIPD) for Achondroplasia.Prenatal diagnosis · 2025Article
- [Significance and considerations of early diagnosis and treatment for improving height outcomes in children with achondroplasia].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Review
- Recommendations for management of infants and young children with achondroplasia: Does clinical practice align?Orphanet journal of rare diseases · 2025Article
- The clinical management of children with achondroplasia in Italy: results of clinician and parent/caregiver surveys.Journal of endocrinological investigation · 2024Article
- What to Expect of Feeding Abilities and Nutritional Aspects in Achondroplasia Patients: A Narrative Review.Genes · 2023Review
- The management of achondroplasia in Italy: results from a Delphi panel based on real-world experience.Frontiers in pediatrics · 2023Article
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Authors and funding
15 authors at 13 institutions in 10 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAchondroplasia is the most common form of skeletal dysplasia, with serious comorbidities and complications that may occur from early infancy to adulthood, requiring lifelong management from a multidisciplinary team expert in the condition The European Achondroplasia Forum guiding principles of management highlight the importance of accurate diagnosis and timely referral to a centre specialised in the management of achondroplasia to fully support individuals with achondroplasia and their families, and to appropriately plan management. The European Achondroplasia Forum undertook an exploratory audit of its Steering Committee to ascertain the current situation in Europe and to understand the potential barriers to timely diagnosis and referral.
resultsDiagnosis of achondroplasia was primarily confirmed prenatally (66.6%), at Day 0 (12.8%) or within one month after birth (12.8%). For suspected and confirmed cases of achondroplasia, a greater proportion were identified earlier in the prenatal period (87.1%) with fewer diagnoses at Day 0 (5.1%) or within the first month of life (2.6%). Referral to a specialist centre took place after birth (86.6%), predominantly within the first month, although there was a wide variety in the timepoint of referral between countries and in the time lapsed between suspicion or confirmed diagnosis of achondroplasia and referral to a specialist centre.
conclusionsThe European Achondroplasia Forum guiding principles of management recommend diagnosis of achondroplasia as early as possible. If concerns are raised at routine ultrasound, second line investigation should be implemented so that the diagnosis can be reached as soon as possible for ongoing management. Clinical and radiological examination supported by molecular testing is the most effective way to confirm diagnosis of achondroplasia after birth. Referral to a centre specialised in achondroplasia care should be made as soon as possible on suspicion or confirmation of diagnosis. In countries or regions where there are no official skeletal dysplasia reference or specialist centres, priority should be given to their creation or recognition, together with incentives to improve the structure of the existing multidisciplinary team managing achondroplasia. The length of delay between diagnosis of achondroplasia and referral to a specialist centre warrants further research.
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