Short Stature

Aka: Short Stature, Short Stature for Age, Delayed Linear Growth, Delayed Growth, Growth Delay

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II. Definitions

  1. Short Stature
    1. Height >2 SD BELOW the mean height for age and gender (or <3rd percentile on growth curve)

III. Exam: General

  1. See Weight Measurement in Children
  2. See Height Measurement in Children
  3. See Body Mass Index
  4. See Weight for Height Age
  5. See Height Velocity
  6. See Midparental Height
  7. See Dysmorphic features in Congenital Disorders

IV. Exam: Findings suggestive of Collagen bone disease

  1. Examples
    1. Osteochondrodysplasia
    2. Metaphyseal dysostosis
  2. Extremely Short
    1. Disproportionate shortness ("Dwarf")
      1. Arms and legs short compared with trunk
    2. Proportionate shortness
      1. "China Doll" Shortness
  3. Abnormal measurements
    1. Linear Growth Velocity
    2. Tanner Staging (See Tanner Staging)
    3. Arm Span
    4. Upper to Lower Segment Ratio

V. Exam: Term Newborn

  1. Micropenis (size <2.8 cm stretched)
    1. Assess for Luteinizing Hormone deficiency
    2. Associated with Panhypopituitarism
  2. Congenital Nystagmus
    1. Assess for septo-optic dysplasia
    2. Associated with Growth Hormone Deficiency
  3. Small for Gestational Age
    1. Catch-up growth results in normalization of growth curve by 2 years old in 90% of cases
      1. Evaluate or refer if catch up growth has not started by age 2 years
    2. Pathologic Delayed Growth may be considered if no catch up growth is evident in the first 6 months of life
    3. SGA Infants may have delayed catch-up growth in 10% of cases
    4. SGA Preterm Infants may not attain normal height for age until age 4 years

VI. Diagnostics

  1. Bone Age Films
  2. Formal dental exam for dental age

VII. Labs: Routine

  1. Hepatic and Renal Disease
    1. Urinalysis
    2. Chemistry panel (Chem8)
    3. Liver Function Test
  2. Anemia Evaluation
    1. Complete Blood Count
    2. Serum Iron and Ferritin
  3. Inflammatory Bowel Disease and Celiac Sprue
    1. Erythrocyte Sedimentation Rate (ESR)
    2. C-Reactive Protein
    3. Tissue transglutaminase antibodies
  4. Endocrine (Growth Hormone Deficiency, Hypothyroidism)
    1. Thyroid Stimulating Hormone
    2. Insulinlike Growth Factor 1 (IGF-1) - consult local endocrinology
  5. Turner Syndrome
    1. Karyotype
    2. Follicle Stimulating Hormone (FSH)

VIII. Differential Diagnosis (with specific related evaluation)

  1. Non-Pathologic Causes (60 to 95% of cases)
    1. Normal tests, evaluation and Bone Age Films
      1. Familial Short Stature
      2. Idiopathic Short Stature
    2. Normal tests and evaluation with a minimally delayed Bone Age Film
      1. Constitutional Short Stature
  2. Medication causes
    1. Chronic Corticosteroids
    2. Stimulant Medications for Attention Deficit Disorder
    3. Anticonvulsants
  3. Abnormal tests or evaluation with a normal Bone Age Film (requires further evaluation)
    1. Iron Deficiency Anemia
    2. Lead Poisoning
    3. Inflammatory conditions
  4. Dysmorphic features (Refer to geneticist, endocrinologist; Genetic Tests, karyotyping)
    1. Down Syndrome
    2. Noonan Syndrome
    3. Prader-Willi Syndrome
    4. Russell-Silver Syndrome
    5. Skeletal Dysplasia
    6. Turner Syndrome
    7. Fetal Alcohol Syndrome
    8. Achondroplasia
  5. Inadequate Nutrition or Malabsorption (high height for weight, low BMI percentile)
    1. Malnutrition
    2. Gluten-sensitive Enteropathy (Celiac Disease)
      1. Tissue transglutaminase antibodies
      2. Antiendomysial Antibody titers
    3. Cystic Fibrosis (typically age <2 at diagnosis)
      1. Sweat Chloride testing
  6. Endocrine Disorders (delayed Bone Age, low height for weight, high BMI percentile)
    1. Cushing Disease
      1. 24 hour Urine Cortisol
    2. Growth Hormone Deficiency (acquired or congenital)
      1. IGF-1
      2. IGF-binding Protein #3
      3. Associated with midline disorders (e.g. Cleft Lip)
    3. Hypothyroidism
      1. Thyroid Stimulating Hormone (TSH)
      2. Free T4
  7. Other Conditions
    1. Inflammatory Bowel Disease
      1. Erythrocyte Sedimentation Rate (ESR)
      2. C-Reactive Protein (CRP)
      3. Endoscopy with biopsy
    2. Chronic Renal Insufficiency
      1. Urinalysis
      2. Serum Creatine and GFR estimate
    3. Vitamin D Deficiency (Rickets)
      1. 25-hydroxyvitamin D
      2. 1,25-dihydroxyvitamin D
      3. Parathyroid Hormone

IX. Evaluation

  1. Indications for evaluation
    1. Height >2 SD below mean for age (or <3rd percentile)
    2. Growth Velocity <5 cm (2 in) per year
    3. Projected height <2 SD (10 cm) below Midparental Height
  2. Approach
    1. Determine if growth is truly delayed (see indications above)
      1. See Calculation of Growth Delay
    2. Determine when Growth Delay began (in-utero, perinatal or childhood)
      1. See Growth Delay Onset Determination
    3. Determine cause if possible
      1. Only 5% of Short Stature referrals have an identifiable pathologic cause
      2. Most common identifiable causes
        1. Growth Hormone Deficiency
        2. Hypothyroidism
        3. Celiac Sprue
        4. Turner Syndrome (girls)
  3. Gastrointestinal symptoms
    1. Consider Celiac Sprue or Inflammatory Bowel Disease
    2. Pediatric Gastroenterology Referral
  4. Endocrinology symptoms
    1. Consider Cortisol excess or Hypothyroidism
    2. Pediatric Endocrinology Referral
  5. Dysmorphic Features
    1. Proportional growth
      1. Consider Genetic Syndromes (e.g. Down Syndrome, Turner Syndrome)
    2. Non-proportional growth
      1. Consider chondrodystrophy (e.g. Achondroplasia, hypochondroplasia)
  6. Normal Growth Velocity (>5 cm/year)
    1. Delayed Bone Age
      1. Constitutional Growth Delay (Growth Velocity normalizes after age 18 months)
    2. Normal Bone Age and projected height consistent with Midparental Height
      1. Familial Short Stature
    3. Normal Bone Age and projected height NOT consistent with Midparental Height
      1. Precocious Puberty (may be associated with advanced Bone Age)
      2. Idiopathic Short Stature
  7. Decreased Growth Velocity (<5 cm/year) and delayed Bone Age (with normal or increased weight)
    1. Constitutional Growth Delay (Growth Velocity slows at age 6 to 18 months)
    2. Delayed Puberty in parents
    3. Growth Hormone Deficiency
    4. Anemia
    5. Hypothyroidism
    6. Systemic illness
    7. Malnutrition
    8. Lead Poisoning (or other environmental toxins)

X. Management: Pediatric Endocrinology Referral Indications

  1. Background
    1. In addition to evaluating for underlying cause, endocrinology will consider whether GH replacement is indicated
    2. Growth Hormone Replacement is expensive ($25,000/year) and has associated adverse effects
    3. Delayed Puberty in males may be treated with Testosterone injection in some cases
  2. Failure to follow expected growth
    1. Height >3 SD below mean height for age
    2. Growth Velocity <5 cm (2 in) per year
    3. Projected height >2 SD (10 cm or 4 inches) below Midparental Height
    4. Bone Age >2 SD below Chronological Age
  3. Delayed onset of Puberty
    1. Girls >12 years old
    2. Boys >14 years old
  4. Conditions indicating treatment with recombinant Growth Hormone
    1. Growth Hormone Deficiency
    2. Turner Syndrome
    3. Chronic Renal Failure
    4. Prader-Willi Syndrome
    5. Small for Gestational Age
    6. Noonan Syndrome
    7. Short Stature homeobox-containing gene deficiency (SHOX)
    8. Idiopathic Short Stature
    9. Small for Gestational Age infant (or IUGR) with failed catch up growth by age 2 years

XI. References

  1. Barstow (2015) Am Fam Physician 92(1): 43-50 [PubMed]
  2. Caro (2025) Am Fam Physician 111(6): 532-42 [PubMed]
  3. Cheetham (2014) Arch Dis Child 99(8): 767-71 [PubMed]
  4. Nwosu (2008) Am Fam Physician 78(5): 597-4 [PubMed]

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