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 hypop...

Background: Achondroplasia requires lifelong multidisciplinary care. With the advent of targeted medical treatment, The European Achondroplasia Forum (EAF) reviewed existing health surveillance measures in achondroplasia to determine whether they are still relevant.Methods: An online questionnaire was used to assess health status monitoring both in routine clinical practice and in determining response to vosoritide, curr...