ESPE Abstracts

Achondroplasia is the most common short-limbed short-statured skeletal dysplasia, affecting more than 300,000 people worldwide. The condition is caused by a recurrent pathogenic variant in the Fibroblast Growth Factor Receptor 3 (FGFR3) gene, affecting growth of the long bones, spine, and craniofacial skeleton. Characteristic features are disproportionate short stature (adult height about 124-132 cm), short arms and legs, and a large head with frontal bossing and midface hypoplasia. A number of medical complications are associated with achondroplasia. In infants and young children, foramen magnum stenosis is the most severe complication, and if undetected, may cause compression of the cervical cord resulting in severe neurological complications and sudden infant death. Other common complications in infancy and childhood include central and obstructive sleep apnoea, leg and spine deformities, recurrent upper airway infections, impaired hearing, and delayed motor development, impacting on physical function, daily activities, participation and psychosocial health. In adults, spinal stenosis is the most severe medical complication, and can cause severe neurological symptoms, reduced walking distance, and impaired bladder and bowel function. Other complications in adults are obstructive sleep apnoea, hypertension, impaired hearing, reduced physical function, chronic pain and psychosocial issues, affecting daily life activities, work participation and quality of life. International consensus guidelines recommend lifelong management and follow up in achondroplasia, ideally by a multidisciplinary team (MDT) in centres experienced in achondroplasia. Paediatricians and paediatric endocrinologist are key specialities in the achondroplasia MDT. New medical treatment options (i.e., vosoritide) are emerging and are becoming available in an increasing number of countries in Europe and worldwide, warranting close monitoring by the MDT/paediatrician. Several guidelines for management of achondroplasia have been published over the past few years. This talk will give an update on the current international and European consensus recommendations for follow up and management of achondroplasia.