Short stature

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Short stature
Classification and external resources
ICD-10 E34.3
ICD-9 783.43
DiseasesDB 18756
MedlinePlus 003271

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List of terms related to Short stature

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ifrah Fatima, M.B.B.S[2]


Short stature is defined as a height more than 2 standard deviations below the mean for chronological age and sex. It corresponds to a linear height of less than the 3rd percentile. The most common causes of short stature are normal variants of growth like familial short stature and constitutional delay of growth and puberty.

Historical Perspective

[Disease name] was first discovered by [name of scientist], a [nationality + occupation], in [year]/during/following [event].

The association between [important risk factor/cause] and [disease name] was made in/during [year/event].

In [year], [scientist] was the first to discover the association between [risk factor] and the development of [disease name].

In [year], [gene] mutations were first implicated in the pathogenesis of [disease name].

There have been several outbreaks of [disease name], including -----.

In [year], [diagnostic test/therapy] was developed by [scientist] to treat/diagnose [disease name].


There is no established system for the classification of short stature. Based on the etiology, short stature may be classified into normal variants of growth or systemic pathological causes. Normal variants of growth include- [1]

For more information about the pathological etiology, refer to causes below.


The exact pathogenesis of short stature is an interplay of many factors. Linear growth is determined by the factors affecting the growth plate cartilage of bones. [2][3]


The most common causes of short stature are the normal variants of growth- familial short stature and constitutional delay of growth and puberty. Normal variants of growth include-

Pathological causes of short stature include- [6]

Differentiating familial short stature from constitutional delay

[10] [11]

Feature Familial short stature Constitutional delay
Parents' height Short Normal or average
Growth Normal Slow
Bone age Normal Delayed
Puberty Normal Delayed
Adult height Short Normal

Epidemiology and Demographics

The incidence of short stature according to its definition is approximately 2.5% i.e more than 2 standard deviations below the mean for chronological age and sex. The prevalence varies according to different environmental and genetic factors.

According to a study by Lindsay et al, the prevalence of growth hormone deficiency in the United States is 1: 1348. [12]

A study by Velayutham et al showed that the prevalence of short stature in school-going population in South India is 2.86%. [13]

According to a study by Mouzan et al, the prevalence of short stature ranged from 1.8% to 11.3% in males and 1.2% to 10.5% in females. [14]

There is no racial predilection to short stature.

Males are more commonly affected by short stature due to growth hormone deficiency.

Risk Factors

Common risk factors in the development of short stature include- [15][16][17]


Linear height is measured serially and charted at every well-child visit. The growth pattern should be charted and height velocity must be noted. The infancy-childhood-puberty mathematical model may be used to detect abnormalities.[18][19]

Natural History, Complications, and Prognosis

If left untreated, short stature results in lower than normal adult height.


Diagnostic Study of Choice

The diagnosis of short stature is based on the definition of a height more than 2 standard deviations(SD) below the mean for chronological age and sex. This corresponds to a height of less than 2.3rd percentile. Serial measurements of height and height velocity must be done at every well-child visit and a growth chart must be monitored. For infants less than 2 years of age, the length is measured lying down. For children more than 2 years of age, standing height is measured.

History and Symptoms

The majority of patients with short stature are diagnosed by serial measurements of height.

When short stature is associated with underlying pathology, history of the following may be seen-

Physical Examination

Patients with short stature usually appear normal. If associated with underlying conditions, other features related to the underlying disease may be seen. The following features must be noted on physical examination- [21]

  • Length or height plotted on a growth chart corresponding to age and sex
  • Weight and weight-for-age
  • Height velocity- measured in cm/year by calculating the difference in height with a time difference of at least 6 months
  • Midparental height- Represents the potential or genetic target height [22]
    • Boys- (father's height + mother's height + 13 cm)/2
    • Girls- (father's height + mother's height − 13 cm)/2
  • Bone age
  • Adult height prediction

Other features suspicious of pathological causes of short stature may be associated with-

Laboratory Findings

There are no specific diagnostic laboratory findings associated with short stature. Associated findings due to an underlying pathological illness may be seen. [23] [24] [25]


An ECG may be helpful in the diagnosis of congenital heart disease as a cause of short stature.


An x-ray is used to determine the bone age in the diagnosis of the cause of short stature.

Echocardiography or Ultrasound

Echocardiography/ultrasound may be helpful in the diagnosis of short stature when associated with congenital heart disease.

CT scan

There are no CT scan findings associated with short stature.


There are no MRI findings associated with short stature. An MRI may be useful when short stature is associated with growth hormone deficiency. Suggestive findings include absence of the anterior pituitary gland (empty sella), an ectopic posterior pituitary gland, and hypoplasia of the pituitary gland. [26] [27]

Other Imaging Findings

There are no other imaging findings associated with short stature.

Other Diagnostic Studies

There are no other diagnostic studies associated with short stature.


Medical Therapy

The mainstay of treatment for short stature due to growth hormone deficiency is growth hormone replacement therapy. [28] [25]

Other pharmacologic medical therapies for other causes of short stature include- [25]

Patients with an underlying disorder resulting in short stature should be treated for the disorder.


Surgical intervention is not recommended for the management of short stature.

Primary Prevention

There are no established measures for the primary prevention of short stature. Adequate maternal nutrition during pregnancy is an important factor.

Secondary Prevention

There are no established measures for the secondary prevention of short stature.


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  2. Rimoin DL, Borochowitz Z, Horton WA (1986). "Short stature--physiology and pathology". West J Med. 144 (6): 710–21. PMC 1306754. PMID 2873688.
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  14. El Mouzan MI, Al Herbish AS, Al Salloum AA, Foster PJ, Al Omer AA, Qurachi MM (2011). "Prevalence of short stature in Saudi children and adolescents". Ann Saudi Med. 31 (5): 498–501. doi:10.4103/0256-4947.84628. PMC 3183685. PMID 21911988.
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  17. Hussein A, Farghaly H, Askar E, Metwalley K, Saad K, Zahran A; et al. (2017). "Etiological factors of short stature in children and adolescents: experience at a tertiary care hospital in Egypt". Ther Adv Endocrinol Metab. 8 (5): 75–80. doi:10.1177/2042018817707464. PMC 5467802. PMID 28634534.
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