hrp0095p1-330 | Growth and Syndromes | ESPE2022

The JAMP (Journey around Achondroplasia Medicines and Patients) Project: Results Collected From Two Surveys to clinicians and Patients in Italy

Antoniazzi Franco , Francesca Bedeschi Maria , Boero Silvio , LidonniciDario , Maghnie Mohamad , MoraStefano , Ravasio Roberto , Scarano Gioacchino , Selicorni Angelo , Sessa Marco , Verdoni Fabio , Zampino Giuseppe

Achondroplasia is a rare genetic condition caused by a recurrent pathogenetic variant in the FGFR3 gene resulting in short limb skeletal dysplasia. Due to the wide-ranging anomalies associated with achondroplasia (both peculiar clinical features and complications), a multidisciplinary team is often required for ongoing care, although the nature of specialists involved differs among countries. Despite a European consensus on principles for the management of achondropla...