Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations
The EAF reviewed the timepoint of diagnosis and referral of achondroplasia in six European centres. There is often a delay in referral to a specialist centre, so the EAF developed some best practice recommendations to ensure accurate diagnosis and timely referral to a clinician or multidisciplinary specialist in achondroplasia to enable optimum management.