Table 2
Etiologies and frequency of short stature

Etiologies Frequency
Normal variant >60%
Familial short stature, constitutional delay of growth and puberty, idiopathic short stature
Pathologic short stature
Short stature related syndrome or chromosomal abnormalities 5%
Turner syndrome, Noonan syndrome, Prader-Willi syndrome, Russel-Silver syndrome
Skeletal dysplasia 2%
Achondroplasia, hypochondroplasia
Small for gestational age 2%
Chronic systemic diseases 2%
Malnutrition, kidney disease, endocrine disease, inflammatory bowel disease, cardiac and pulmonary disease
Disorders of growth hormone-insulin-like growth factor-I axis 2%
Growth hormone deficiency, growth hormone insensitivity, insulin-like growth factor-I deficiency
Psychosocial deprivation <1%
Modified from Polidori N et al. Ann Pediatr Endocrinol Metab 2020;25:69-79 [15].