Breathing challenges in achondroplasia: a comprehensive review of pediatric respiratory complications.

Achondroplasia is the most common skeletal dysplasia, characterized by disproportionate short stature and associated craniofacial, musculoskeletal, and neurological abnormalities. Respiratory complications are frequent and represent a major contributor to morbidity and mortality. Sleep-disordered breathing (SDB), encompassing obstructive (OSA) and central sleep apnea (CSA), is the most prevalent respiratory complication with pediatric prevalence reported between 22% and 93%. OSA results primarily from multilevel upper-airway obstruction related to craniofacial abnormalities and adenotonsillar hypertrophy, whereas CSA is often linked to cervicomedullary compression secondary to foramen magnum stenosis (FMS). Early sleep evaluation, particularly during infancy, is essential. Management strategies include adenotonsillectomy, maxillofacial interventions, cervicomedullary decompression, and non-invasive ventilation (NIV), according to underlying pathophysiology. Restrictive lung disease, pulmonary hypertension (PH), airway malacia and conductive hearing loss (CHL) further contribute to respiratory burden. Over the last fifteen years, major advances in this field have included improved recognition of the heterogeneity of SDB, the role of dynamic airway abnormalities and residual postoperative obstruction, and the emergence of FGFR3-targeted therapies. However, major gaps remain regarding optimal surveillance strategies and the impact of novel therapies on respiratory outcomes. Early identification, multidisciplinary management and follow-up are critical to optimize long-term outcomes.