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Short stature

Last updated: June 2, 2021

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Short stature (dwarfism) in children is defined as a height that is at least two standard deviations (SDs) below the mean for children of the same age and sex. In adults, the condition is commonly defined as a height of 5 ft 1 in (155 cm) or less in men and 4 ft 10 in (147 cm) or less in women. Nonpathological variant short stature can be classified into three types: familial short stature (inherited short stature), constitutional delay of growth and puberty (an inherited pattern of short stature during childhood that is followed by a growth spurt during puberty, typically resulting in normal adult height), and idiopathic short stature (short stature in the absence of any metabolic, endocrine, or other diagnosis). These types of short stature are most often normal variants of growth and rarely affect a child's development beyond longitudinal growth. The pathological causes of short stature are diverse and include psychosocial circumstances as well as a variety of genetic, endocrine, and metabolic disorders, which may affect a child's development in other ways than longitudinal growth. Further diagnostic testing is indicated if a child's growth is less than what might be expected given the average height of the parents. An x-ray of the left hand and wrist are made to determine bone age (skeletal age), based on which the adult size of the child can be predicted. Laboratory testing can help rule out any underlying condition. Treatment is rarely indicated in nonpathological short stature (e.g., if short stature does not represent a disability to the patient), while pathological short stature is treated according to the underlying condition and usually involves growth hormone supplementation.

  • Short stature (dwarfism)
    • Children: height of > 2 SDs below the mean for children of the same age, sex, and similar genetic background
    • Adults: height of ≤ 4 ft 10 in (147 cm) for women and ≤ 5 ft 1 in (155 cm) for men [1]
  • Proportionate short stature
  • Disproportionate short stature
    • Limbs disproportionately short compared to trunk
    • Seen mostly in cases of skeletal dysplasia
  • Growth failure: growth rate below the rate considered appropriate for sex and age.

Short stature can have a variety of genetic, systemic, and psychosocial causes.

Genetic causes of short stature
Condition Underlying cause Characteristics
Nonpathological variant short stature

Familial short stature

  • Hereditary short stature
  • Most common cause of proportionate short stature
  • Normal development
  • Skeletal age consistent with chronological age
Constitutional growth delay
  • Temporary delay in growth and onset of puberty
  • X-ray shows a delayed bone age (less than the individual's chronological age)
  • Delayed onset of puberty, but no treatment is needed
    • Reassuring the child and parents is sufficient.
    • Catch-up growth eventually occurs.
    • Individual reaches a normal adult height.
Idiopathic short stature
  • Diagnosis of exclusion in the absence of an underlying condition
  • Height of ≤ 2 SDs below the mean for age that cannot be explained by inheritance or pathological processes.
Pathological short stature
Laron syndrome
Skeletal dysplasias
Turner syndrome
Down syndrome
  • Possibly due to selective IGF-1 deficiency
  • Craniofacial dysmorphia
  • Skeletal abnormalities
  • Developmental delay
  • Obesity
Williams syndrome
Cystic fibrosis
Pseudohypoparathyroidism (Albright hereditary osteodystrophy)
  • Impaired bone growth due to PTH resistance
McCune-Albright syndrome
  • Accelerated bone maturation associated with early onset of puberty
Systemic causes of short stature
Condition Underlying cause Characteristics
Endocrine disorders
Congenital hypothyroidism
GH deficiencies
  • Impaired bone and muscle development
Congenital adrenal hyperplasia
  • Rapid bone maturation due to increased androgen levels
Glucocorticoid excess
Type 1 diabetes mellitus
Rheumatological diseases
Juvenile idiopathic arthritis
Renal disorders
Chronic kidney disease (CKD)
Fanconi syndrome
  • Increased phosphaturia due to impaired tubular reabsorption of phosphate
Metabolic disorders
Rickets
Gastrointestinal disorders

Celiac disease/
Inflammatory bowel disease

Chronic oxygen deficiency
Congenital heart defects
  • High energy requirements due to inappropriate gas exchange
  • Decreased nutritional intake
Anemias
  • Tissue hypoxia and low metabolism rates
Immunological diseases
HIV infection
  • Chronic immunodeficiency associated with:
    • Low dietary intake and altered metabolism
    • Low IGF-1 levels and tissue insensitivity to IGF-1
    • Increased susceptibility to diarrhea
Severe combined immunodeficiency
Other causes of short stature
Neoplasms
Psychosocial causes of short stature
Condition Underlying cause Characteristics
Maternal substance use
Psychosocial short stature
  • Emotional deprivation or stress that typically involves neglect, abuse, or a poor relationship between the patient and caregiver and leads to:
  • Poor growth or weight gain
  • Poor record of school attendance and medical care
  • Signs of child maltreatment
  • Clinical and radiographic signs of abuse
Anorexia nervosa

Patient history

Laboratory tests

Imaging tests

Management depends on the underlying cause:

Achondroplasia [2]

Osteogenesis imperfecta (brittle bone disease)

In osteogenesis imperfecta, patients cannot BITE: Bones (recurrent fractures), I for “eye” (blue sclerae), Teeth (dental abnormalities), Ears (hearing loss).

Bone fractures from osteogenesis imperfecta are easily mistaken for signs of child maltreatment.

Campomelic dysplasia

  1. Achondroplasia. https://ghr.nlm.nih.gov/condition/achondroplasia. Updated: February 14, 2017. Accessed: February 16, 2017.
  2. Achondroplasia. https://rarediseases.info.nih.gov/diseases/8173/achondroplasia. Updated: November 1, 2019. Accessed: November 13, 2019.
  3. Le T, Bhushan V,‎ Sochat M, Chavda Y, Abrams J, Kalani M, Kallianos K, Vaidyanathan V. First Aid for the USMLE Step 1 2019. McGraw-Hill Medical
  4. Ireland P, Pacey V, Zankl A, Edwards P, Johnson L, Savarirayan R. Optimal management of complications associated with achondroplasia. Appl Clin Genet. 2014 : p.117-125. doi: 10.2147/tacg.s51485 . | Open in Read by QxMD
  5. COL1A1/2-Related Osteogenesis Imperfecta. https://www.ncbi.nlm.nih.gov/books/NBK1295/. Updated: February 14, 2013. Accessed: February 20, 2018.
  6. Types of OI. http://www.oif.org/site/PageServer?pagename=AOI_Types. Updated: February 16, 2017. Accessed: February 16, 2017.
  7. Fast Facts on Osteogenesis Imperfecta. http://www.oif.org/site/PageServer?pagename=fastfacts. Updated: February 16, 2017. Accessed: February 16, 2017.
  8. Campomelic dysplasia. https://rarediseases.org/rare-diseases/campomelic-syndrome/. Updated: January 1, 2007. Accessed: November 19, 2019.
  9. Campomelic dysplasia. https://ghr.nlm.nih.gov/condition/campomelic-dysplasia#diagnosis. Updated: November 12, 2019. Accessed: November 19, 2019.
  10. Dwarfism. https://www.mayoclinic.org/diseases-conditions/dwarfism/symptoms-causes/syc-20371969. Updated: August 17, 2018. Accessed: November 18, 2019.