Living With Hypochondroplasia: A Qualitative Exploration of Children's and Caregivers' Experiences, Challenges, and Unmet Needs.

ABSTRACT:

Background

Hypochondroplasia (HCH) is a rare genetic skeletal dysplasia characterized by short stature, disproportionate limbs, and complications such as learning differences. Currently, no treatments are approved to address HCH-related short stature, which can adversely affect quality of life. This study aimed to explore diagnostic processes, care pathways, daily life impacts, and unmet needs in HCH.

Methods

Ninety-minute interviews were conducted with nine children and young adults and 25 caregivers who had physician-confirmed HCH. Participants discussed diagnostic journeys, treatment considerations, and day-to-day challenges. Following interviews, two 90-min focus groups among caregivers (n = 10) were conducted to explore themes emerging during interviews.

Results

SUBMITTER: Oehrlein EM 

PROVIDER: S-EPMC12617553 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature