Assessment of short stature

Last reviewed: 3 Feb 2021

Last updated: 02 Dec 2020

Short stature is defined as a height that is two or more standard deviations below the mean for age and sex within a population (below the 2.5th percentile).

Growth deceleration is defined as a growth velocity that is below the 5th percentile for age and sex (e.g., <5 cm/year after the age of 5 years), or a height drop across two or more percentiles on the growth chart.

Epidemiology

About 2% of all children, or more than 1 million children in the US, present with short stature. Boys come to medical attention because of short stature more frequently than girls. However, one study found that 38% of boys and 20% of girls who were referred were of normal height, the referral being due to errors in measurement, errors in plotting on the growth chart, or failure to account for the child's genetic height potential.[1][2]

In a school-based study, 14% of children who were shorter than the 3rd percentile and growing at <5 cm/year were found to have an underlying medical condition, of which 5% were endocrine in origin.[3] In resource-poor settings short stature is often a consequence of malnutrition. Prevalence rates for stunting in adolescents and children range from 9% to 11% in South America and are as high as 30% in parts of Africa.[4][5][6]

Normal growth

Factors determining normal growth depend on the child's age. An alteration in any of the factors can lead to growth failure.[1][7]

Antenatal growth: the major determinants of fetal growth are uterine size, placental function, maternal nutrition, insulin, insulin-like growth factors (IGFs), and IGF-binding proteins (IGFBPs).
Postnatal growth: this is characterised by an initial rapid growth rate that declines progressively, reaching a plateau of about 5 to 7 cm/year between 3 years of age until puberty. Babies born large or small for their genetic potential will 'channel' to their correct percentile in their first 2 years. Growth hormone, thyroid hormones, nutrition, and insulin play major roles at this time.
Pubertal growth: immediately prior to puberty, growth usually slows down ('prepubertal dip'), only to be followed by the pubertal growth spurt. Sex hormones exert important growth effects during puberty, in addition to other factors such as growth hormone, thyroid hormones, nutrition, and insulin. Girls have their growth spurt early in puberty. Boys experience their growth spurt towards the end of puberty and achieve greater height velocities than girls. This, combined with the fact that boys grow for approximately 2 years more than girls, explains the 13 cm (5 inches) difference in final heights between the sexes.

Differentials

Common

Familial short stature (genetic short stature)
Constitutional delay of growth and development
Idiopathic short stature
Small for gestational age (SGA) without catch-up growth by 2 years of age

Full details

Uncommon

Growth hormone (GH) deficiency
Hypothyroidism
Cushing syndrome
GH insensitivity (Laron syndrome)
Craniopharyngioma
Turner syndrome
Noonan syndrome
Russell-Silver syndrome
Trisomy 21
Prader-Willi syndrome
DiGeorge syndrome (velocardiofacial syndrome)
Coeliac disease
Cystic fibrosis
Asthma (moderate or severe)
Chronic heart disease (congenital or acquired)
Diabetes mellitus
Chronic renal failure
Juvenile idiopathic arthritis
Crohn's disease
Ulcerative colitis
Malignancy
Renal tubular acidosis
Rickets
Skeletal dysplasias (e.g., achondroplasia, hypochondroplasia, osteogenesis imperfecta)
Spinal disorders (irradiation, surgery, congenital deformities)
Psychosocial deprivation (abuse, neglect, starvation, institutionalisation)
Anorexia nervosa
Bulimia nervosa
Fetal alcohol syndrome
Stimulant medications for ADHD