Genome Medicine (journal)

Jill Simmons, MD, and John Shelley found that adding a genetic measure of height to the evaluation of children with short stature might improve diagnosis and clinical outcomes. (photo by Erin O. Smith)
April 25, 2025

Polygenic score for height could improve diagnosis for children with short stature: study

Even after comprehensive testing, about 30% of children with short stature — height below the third percentile on a growth chart — do not have a definitive diagnosis, leading to extended surveillance, testing and anxiety.

By Leigh MacMillan