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.