Bone Abstracts

Skeletal dysplasia is a heterogeneous group of more than 450 disorders characterised by abnormalities of cartilage and bone growth, resulting in abnormal modelling of the skeleton and disproportion of the long bones, spine, and head. It affects an estimated 1 in every 4000–5000 live births. Pathogenic variants in genes encoding proteins key in skeletal growth and development underlie skeletal dysplasia. These genes express proteins involved in cartilage extracellular matrix, signalling pathways and transcription and growth factors. Disruption of these finely tuned processes result in fundamental dysfunction of the bones and cartilage. In addition, epigenetic factors are known to be associated with skeletal dysplasia, as exemplified by paternal uniparental disomy of chromosome 14 and related mechanisms. In this session, an overview of the different genetic and epigenetic factors causing skeletal dysplasia will be discussed, using illustrative examples to explain the wide spectrum of disorders. In addition, an overview of how new technological advancements are revolutionising the management of skeletal dysplasia and the prospects for new therapies will be provided. Emphasis remains on the multidisciplinary approach to treating skeletal dysplasia and the Evelina London Children’s Hospital experience will be shared.

Disclosure: The authors declared no competing interests.