Consensus statement on the management of Achondroplasia in the Middle East

Achondroplasia is the most common skeletal dysplasia and presents as a lifelong, multi-system condition characterized by disproportionate short stature, rhizomelic limb shortening, macrocephaly with frontal bossing, and a spectrum of neurological, respiratory, orthopedic, and psychosocial complications. Effective management requires anticipatory surveillance, coordinated multidisciplinary care, and early recognition of life-threatening complications. Therapeutic options have expanded in recent years with the introduction of vosoritide, a C-type natriuretic peptide analog that targets the underlying pathophysiology and has demonstrated significant improvements in linear growth and body proportionality in eligible children. However, global advances have not been uniformly translated into clinical practice across the Middle East, where challenges such as delayed diagnosis, inconsistent access to genetic testing, limited multidisciplinary infrastructure, and inequities in treatment availability continue to impact patient outcomes. In this document, a panel of pediatric endocrinologists and clinical geneticists from the Middle East convened to develop a set of regionally relevant, evidence-informed consensus statements on the diagnosis and management of achondroplasia in light of novel advances in the management of this condition. Using a modified Delphi process, the panel achieved consensus on 25 statements covering diagnosis, surveillance, multidisciplinary management, psychosocial support, pharmacologic interventions, transition to adult care, and research priorities. This consensus, endorsed by the Arab Society for Pediatric Endocrinology and Diabetes (ASPED) and the MENA Medical Genetics Association, aims to standardize and enhance the quality of care for individuals with achondroplasia across the region by integrating international best practices with local healthcare realities. The author panel believes that the implementation of these recommendations has the potential to improve early detection, optimize long-term outcomes, strengthen family support, and expand equitable access to emerging therapies.