hrp0095p1-330 | Growth and Syndromes | ESPE2022
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...