ESPE Abstracts

Background: Achondroplasia (ACH), caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene (FGFR3), is characterized by severe growth failure and may be associated with multisystemic complications. The clinical phenotype is variable and relates to deformity of rhizomelic shortened legs, and myelon compression at cranial base and spine. Recent guidelines are published for diagnostic workflow, neurosurgical, orthopaedic and otorhinolaryngol...

Background: Achondroplasia (Ach) is a rare growth disorder caused by a point mutation in the fibroblast growth factor receptor 3 gene that results in dysproportionate extreme short stature and can lead to a wide range of multisystemic complications throughout the individual's life with reduced quality of life. In the past, orthopaedic and neurosurgical therapies have been developed to partially improve mobility, reduce pain and prevent neurological disabi...