Short Stature in Children

Short stature in children is defined as a height more than 2 standard deviations below the mean for age and gender or growing below the 3rd percentile when plotting height on standardized growth charts. Short stature can be pathological or due to a normal variant in growth pattern. In the majority of cases, short stature in early childhood is due to constitutional growth delay. Management is directed at the underlying cause, and prognosis depends on age, etiology, and severity.

Last update:

Table of Contents

Share this concept:

Share on facebook
Share on twitter
Share on linkedin
Share on reddit
Share on email
Share on whatsapp

Overview

Definition

Children are diagnosed with short stature if their measured height is 2 standard deviations below the mean for age and sex. “Short stature” is an umbrella term, describing the result of processes that may be either idiopathic or pathological.

Classification

Idiopathic: normal variants of patterns of growth that often result in achieving full potential height by adulthood

  • Idiopathic short stature:
    • Height below 2 standard deviations from the mean without physiological causes
    • Diagnosis of exclusion
  • Familial short stature:
    • Low-normal height velocity throughout life
    • Matches parental height (child is short like their parents)
    • Chronological age and bone age match.
  • Constitutional growth delay:
    • Normal growth pattern variant
    • Child size normal at birth
    • Growth rate decelerates more pronouncedly than expected at 3–6 months of age.
    • Late pubertal growth spurt
    • Delayed skeletal age compared to chronological age
    • Growth period is prolonged and adult height is normal.
  • Small for gestational age infant with catch-up growth:
    • Children born small due to adverse intrauterine conditions or premature birth
    • Usually grow rapidly, crossing growth percentiles, and are within normal range by age 2

Pathological:

  • Systemic disorders: cause decreased adult height due to increased metabolic needs or disease process
  • Endocrinological causes of short stature: impact stature due to dysregulation of growth controlling hormones directly or indirectly
  • Genetic disorders:
    • Cause short stature as primary effect of disorder
    • Often, short stature diagnostic criterion for disorder

Etiology

Genetic

  • Constitutional growth delay
  • Familial short stature
  • Genetic syndromes (e.g., Down syndrome (DS))
  • Achondroplasia
  • Osteogenesis imperfecta

Endocrine

  • Hypothyroidism
  • Cushing syndrome
  • Growth hormone (GH) deficiency
  • Sexual precocity

Systemic disease

  • Celiac disease (CD)
  • Irritable bowel syndrome (IBS)
  • Cystic fibrosis (CF)
  • Congenital heart disease (CHD)
  • Renal disease
  • Cancer

Environmental causes

  • Undernutrition
  • Child abuse and neglect
  • Exogenous glucocorticoid use

Clinical Presentation

History

  • Growth curves:
    • Growth pattern documented on appropriate age and sex growth curve
    • Birth–36 months:
      • Length-for-age and weight-for-age
      • Head circumference-for-age and weight-for-length
    •  Ages 2–20 years:
      • Stature-for-age and weight-for-age
      • BMI-for-age
    • Optional for preschoolers, 2–5 years: weight-for-stature
    • Measurement should be performed using the same instruments whenever possible, to reduce error.
    • Accurate measurement of child < 24 months is supine.
    • Only children with height < 2 standard deviations require further evaluation.
  • Height velocity (HV):
    • Speed or growth over time
    • Can be considered vital sign
    • Plotted in HV chart
    • Growth failure can be suspected if:
      • 2–4 years HV < 5.5 cm/year (< 2.2 inches/year)
      • 4–6 years HV < 5 cm/year (< 2 inches/year)
      • 6 years–puberty: HV < 4 cm/year for boys (< 1.6 inches/year) and HV < 4.5 cm/year for girls (< 1.8 inches/year)
  • Estimation of expected final height:
    • Midparental height (MPH) or target height:
      • Boys: mother’s height + 13 cm averaged with the father’s height
      • Girls: father’s height – 13 cm averaged with the mother’s height
    • Projected height (PH) based on bone age:
      • If PH is within 8.5 cm of MPH, the child is inside familial range.
      • If PH is below 8.5 cm of MPH, the child considered short for familial range.
  • Signs of GH deficiency or hypopituitarism:
    • History of head trauma
    • Brain infection
    • Tumor around pituitary gland (hypopituitarism)
  • Abnormal development: Prader-Willi syndrome (PWS) and Angelman syndrome (AS)
  • History of corticosteroid therapy
  • Psychosocial risk factors:
    • Signs of parental neglect or abuse 
    • Diet:
      • Nutritious quality
      • Meal frequency
Expected height of children

Formulas for calculation of the expected height of boys and girls

Image by Lecturio. License: CC BY-NC-SA 4.0

Physical examination

Syndromes that present with short stature:

  • DS:
    • Flat facial profile
    • Upward slant to eyes
    • Small ears
    • Protruding tongue
  • Turner syndrome:
    • Short neck with webbed appearance
    • Low hairline at back of neck
    • Low-set ears
  • Cushing syndrome:
    • Obesity
    • Rounded face
    • Thin purple streaks (purple striae) on skin
    • ↑ Fat around neck, and slender arms and legs

Early sexual development (precocious puberty):

  • Tanner stage inconsistent with age
  • Secondary sexual characteristics at young age
  • Family history

Systemic disease:

  • Inflammatory bowel disease (IBD): diarrhea, abdominal pain, weight loss, and extraintestinal manifestations 
  • Heart murmurs and other signs and symptoms of cardiac pathology
  • Chronic kidney disease in children

Diagnosis

Workup

Bone age with a hand X-ray:

  • X-ray performed in standardized manner and compared to reference 
  • Delayed bone age with short stature may indicate:
    • Constitutional growth delay
    • GH deficiency
    • Systemic causes
  • Normal bone age with short stature may indicate: familial short stature
  • Advanced bone age may indicate:
    • Precocious puberty
    • Hyperthyroidism
X-ray of hand for bone age estimation

X-ray of a hand, with automatic calculation of bone age by computer software

Image: “X-ray of a hand” by Setzner1337. License: CC0 1.0

Labs:

  • CBC for anemia and chronic illness
  • Erythrocyte sedimentation rate (ESR) for IBD and other chronic inflammatory illness
  • Thyroid studies (thyroid-stimulating hormone (TSH), and if ↑ T4): for hypo- or hyperthyroidism
  • CMP for renal diseases
  • IgA for celiac disease
  • Blood gas for metabolic acidosis
  • Morning luteinizing hormone (LH) and follicle-stimulating hormone (FSH) for early sexual development
  • Insulin-like growth factor 1 (IGF1) and IGF binding protein-3 (IGFBP-3) for GH deficiency
  • Karyotype for genetic syndromes (e.g., Turner syndrome)
  • Nutrition profile for malnutrition
  • Malabsorption tests
  • Studies for CF

Diagnosis

  • Identifying stature below 2 standard deviations in growth curves
  • Performing investigations of possible causes

Management

Management of short stature is based on the underlying etiology. Some causes are reversible with intervention, while some others cannot be treated.

  • Constitutional growth delay and familial short stature don’t require treatment.
  • GH replacement therapy indicated in:
    • Current height below -2.25 standard deviations of mean
    • Epiphyses not closed
    • Projected height based on bone age < normal range
    • Turner syndrome, PWS, and other genetic conditions 
  • Recommendations:
    • Balanced diet
    • Proper sleep
    • Physical activity 5x/week

References

  1. Maqbool, A, & Liacouras, CA. (2020). Major symptoms and signs of digestive tract disorders. In R. M. Kliegman MD et al. (Eds.), Nelson textbook of pediatrics (pp. 190–1912.e1).
  2. Nwosu, BU, & Lee, MM. (2008). Evaluation of short and tall stature in children. Am Fam Physician. 78(5):597–604.
  3. Kaplowitz, PB. (2009). Short stature. In: McInerny TK, ed. Textbook of Pediatric Care. Washington, DC: American Academy of Pediatrics; 1727–1730.
  4. Barstow, C. Womack Army Medical Center. (2015). Evaluation of short and tall Stature in children. Am Fam Physician. 92(1):43-50.
  5. Cohen LE. (2014). Idiopathic short stature: a clinical review. JAMA. 311(17):1787–1796.
  6. Lindsay, R, Feldkamp, M, Harris, D, Robertson, J, & Rallison, M. (1994). Utah growth study: Growth standards and the prevalence of growth hormone deficiency. J Pediatr. 125(1):29–35.
  7. Centers for Disease Control and Prevention, National Center for Health Statistics. CDC growth charts: United States. Retrieved April 9, 2021, from http://www.cdc.gov/growthcharts/

Study on the Go

Lecturio Medical complements your studies with evidence-based learning strategies, video lectures, quiz questions, and more – all combined in one easy-to-use resource.

Learn even more with Lecturio:

Complement your med school studies with Lecturio’s all-in-one study companion, delivered with evidence-based learning strategies.

🍪 Lecturio is using cookies to improve your user experience. By continuing use of our service you agree upon our Data Privacy Statement.

Details