Healthcare and Psychosocial Needs in Achondroplasia Across the Lifespan: Developmental Functioning, Multidisciplinary Care, and Family-Centered Outcomes.

BACKGROUND/OBJECTIVES: Achondroplasia is the most common skeletal dysplasia and the leading genetic cause of disproportionate short stature. Although its biological basis involves gain-of-function variants in the FGFR3 gene, achondroplasia is a lifelong multisystem disorder associated with neurological, respiratory, orthopedic, otolaryngological, cardiovascular, oral, functional, and psychosocial complications. This narrative review aims to synthesize the evidence on developmental and adaptive functioning, age-specific healthcare needs, multidisciplinary service delivery, transition to adult care, psychosocial well-being, caregiver burden, and patient- and family-centered outcomes in achondroplasia across the lifespan.

METHODS: A narrative literature review was conducted using PubMed/MEDLINE, Scopus, Web of Science Core Collection, and CINAHL, with Google Scholar used as a supplementary source. Studies published between January 2010 and July 2026 were considered, together with earlier clinically relevant reports. Evidence addressing prenatal and postnatal diagnosis, age-specific manifestations, neurological and respiratory complications, orthopedic and otolaryngological care, cardiometabolic risk, growth monitoring, multidisciplinary management, transition to adult services, disease-modifying therapy, quality of life, and caregiver burden was evaluated.

RESULTS: The clinical priorities of achondroplasia change substantially across the lifespan. Infancy is characterized by an increased risk of foramen magnum stenosis, cervicomedullary compression, hypotonia, and sleep-disordered breathing, whereas orthopedic deformities, chronic pain, reduced mobility, spinal stenosis, hearing impairment, obesity, and cardiovascular risk become increasingly relevant during later childhood, adolescence, and adulthood. Early diagnosis, condition-specific imaging, neurological and respiratory surveillance, growth monitoring, and coordinated specialist care are essential for preventing severe complications. Vosoritide has introduced a disease-modifying therapeutic option, but it does not replace comprehensive clinical surveillance, rehabilitation, orthopedic care, psychosocial support, or shared decision-making. Functional limitations, environmental barriers, treatment burden, and caregiver stress contribute substantially to reduced quality of life.

CONCLUSIONS: Achondroplasia should be managed as a lifelong multisystem condition rather than solely as a disorder of short stature. Standardized surveillance, multidisciplinary coordination, planned transition to adult care, and patient- and family-centered management are essential for improving function, autonomy, long-term health outcomes, and quality of life.