Study highlights the impact of genetic short stature on children’s quality of life and family well-being

Children with genetic causes of short stature, such as hypochondroplasia and NPR2 mutations, experience significantly lower quality of life (QoL) compared to those with idiopathic short stature (ISS) or growth hormone deficiency (GHD), according to a study.

The research, based on parent-reported data from an ongoing Phase 2 trial, utilized the Quality of Life in Short Stature Youth (QoLISSY) survey to assess various aspects of well-being.

Children with genetic short stature had significantly lower overall QoL scores (54.0 vs 70.0, P < 0.001), with particularly pronounced deficits in physical and social domains. Parents of affected children also reported greater emotional and practical burdens. The study identified older age, male sex, and shorter stature as factors associated with poorer QoL, with NPR2 mutation carriers experiencing the greatest impact.

Reference
Galetaki D, Zhang A, Rangos N, et al. Parental Perception of Quality of Life and Impact of Short Stature in Children with Hypochondroplasia and other Genetic Causes of Short Stature. Horm Res Paediatr. 2025;doi: 10.1159/000545318. Epub ahead of print. PMID: 40096834.