Healthy short stature

Idiopathicshort stature (ISS) has been used for more than five decades to label children whose height is below -2 SDS without an identified underlying cause. Although originally conceived as a pragmatic diagnosis of exclusion, ISS has gradually been reified as a disease entity and is now embedded in clinical guidelines, regulatory frameworks and indications for recombinant human growth hormone therapy. In parallel, advances in genomic technologies have uncovered a growing spectrum of monogenic and chromosomal variants among children previously classified as ISS, and highlighted the continuous, polygenic architecture of height in the remainder. These developments render the idiopathic construct increasingly misleading and unstable, as every new etiological discovery shrinks - and conceptually undermines - the ISS category. In this article, we review the historical evolution and current use of ISS, summarize the impact of modern genetic testing on the classification of short stature, and argue that most children currently labeled as having ISS are better described as having "Healthy Short Stature". We define Healthy Short Stature as short stature in otherwise healthy children without systemic, syndromic or endocrine disease, in whom short stature represents the lower extreme of normal growth variation. We discuss how adopting Healthy Short Stature can reduce stigma, remain compatible with ongoing genetic investigation, and provide a more robust framework for aligning clinical practice, research and health policy with contemporary knowledge of human growth biology.