Short Stature

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

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ayesha Javid, MBBS[2]

Overview

Short stature is characterized as a condition in which the height of the person in the 3rd percentile is the average height of the age , sex, and population group. According to Ranke (1996), “Short stature is defined as a condition in which the height of an individual is two standard deviations (SD) below the corresponding mean height of a given age, sex and population group.”

Historical Perspective

• In 1967 by Pierre Maroteaux was the first man to ever mention dwarfism.

• He is largely credited for establishing the link between the genetic condition and prenatal micromelic for the patients with dwarfism.

• In 1994, Dr. John Wasmoth and his team discovered the cause of achondroplasia while researching the topic of dwarfism.

Classification

There are two types of short stature,

Proportionate short stature (PSS)

Proportionate short stature (PSS) is when the person is small, but limbs and trunk height are in proportions.

Disproportionate short stature (DSS)

Whereas in disproportionate short stature (DSS), the normal proportion of limbs and trunk height is absent, and the individual shows a great difference in their sitting and standing height.

Causes

Physiological causes pf short stature

Familial short stature

• In familial short stature, individuals have low-normal height velocity throughout their life.

• They have normal height velocity which distinguishes them from the pathologic causes of short stature.

• Also, they can be distinguished from the individuals with constitutional growth delay, as their bone age is in accordance to their chronologic age.

Idiopathic short stature

• Idiopathic short stature (ISS) is a height below 2 standard deviation (SD) of the mean for age, in the absence of any endocrine, metabolic, or other causes.

• These children are at the lower limit of the normal height velocity, with normal lab findings.

Small for gestational age infants with catch-up growth

• Most infants born small for gestational age (SGA) experience catch-up growth by two years of age. In this way, they are able to reach the normal range of their height.

• However, in preterm neonates, the catch-up growth may be delayed.

• About 10 percent of SGA infants, particularly those born with more severe SGA, do not experience catch-up growth. This group of SGAinfants can be considered to have a pathologic pattern of growth.

PATHOLOGIC CAUSES OF GROWTH FAILURE

Systemic disorders with secondary effects on growth

• Undernutrition
• Glucocorticoid therapy
• Gastrointestinal disease
• Rheumatologic disease
• Chronic kidney disease
• Cancer
• Pulmonary disease
• Cardiac disease
• Immunologic disease
• Metabolic diseases

Genetic Causes

Several genetic disorders have prominent effects on growth.

• Turner's Syndrome
• SHOX gene variant
• Prader-Willi Syndrome
• Noonan syndrome
• Silver-Russell syndrome
• Skeletal dysplasias/growth plate abnormalities

Endocrine Causes

• Cushing syndrome
• Hypothyroidism
• Growth hormone deficiency

Psychosocial short stature

It is a growth disorder that is observed between the ages of 2 and 15, caused by extreme emotional deprivation or stress.

The symptoms include decreased growth hormone (GH) and somatomedin secretion, very short stature, weight that is inappropriate for the height, and immature skeletal age. This disease is a progressive one, and as long as the child is left in the stressing environment, their cognitive abilities continue to degenerate. Though rare in the population at large, it is common in feral children and in children kept in abusive, confined conditions for extended lengths of time. It can cause the body to completely stop growing but is generally considered to be temporary; regular growth will resume when the source of stress is removed

Differential Diagnosis

• Endocrine disorders: Growth hormone deficiency (GHD), insulin-like growth factor-1 (IGF-1), growth failure, constitutional growth delay, growth failure, stunted growth, structural brain abnormalities, or pituitary lesions, pituitary microadenomas, congenital hypothyroidism, idiopathic short stature, intrauterine growth deficiency, etc.

• Genetic disorders: Down syndrome, Turner syndrome, 3M syndrome, Noonan syndrome, Prader-Willi syndrome, Aarskog syndrome, Silver-Russell syndrome, etc.
• Bone diseases: Dwarfism, Achondroplasia (short-limbed dwarfism), diastrophic dysplasia (short-limbed dwarfism), spondylo-epiphyseal dysplasia (short-trunk dwarfism), rickets, etc
• Chronic disorders: Cystic fibrosis, Crohn disease, juvenile idiopathic arthritis (JIA), anemia, chronic renal insufficiency, inflammatory bowel disorder, chronic malnutrition, etc
• Psychological distress

Epidemiology and Demographics

In the United States, 2.5% of the population is short. A study conducted on the school children age 4-16 years in the South Indian Population shows the overall prevalence of short stature was 2.86%.

Gender

• Short stature is equally prevalent among both males and females, but studies show that boys were admitted more than the girls. This could be due to the reason that males are more likely to be brought to medical attention because of the prevalence of social expectations and pressures as compared to the females.
• On the other hand, in Rosario, Argentina, the higher prevalence was found in females (16.4%) than males (8.4%) (p<0.001).[21] The short stature in females was related to age, weight, and abdominal obesity.

Age

• Different ethnic groups have different average statures, which are essential to take into consideration while comparing mean parameters.
• Any individual who has not attained the union of epiphyseal plates, can get affected.

Race

• Short stature is more prevalent among Hispanic children as compared to the other populations.

Risk Factors

• Common risk factors in the development of short stature are diet, environment, and genetics.

Diagnosis

Diagnostic Criteria

• The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met:

• [criterion 1]
• [criterion 2]
• [criterion 3]
• [criterion 4]

Symptoms

• [Disease name] is usually asymptomatic.
• Symptoms of [disease name] may include the following:

• [symptom 1]
• [symptom 2]
• [symptom 3]
• [symptom 4]
• [symptom 5]
• [symptom 6]

Physical Examination

• Patients with [disease name] usually appear [general appearance].
• Physical examination may be remarkable for:

• [finding 1]
• [finding 2]
• [finding 3]
• [finding 4]
• [finding 5]
• [finding 6]

Laboratory Findings

• There are no specific laboratory findings associated with [disease name].

• A [positive/negative] [test name] is diagnostic of [disease name].
• An [elevated/reduced] concentration of [serum/blood/urinary/CSF/other] [lab test] is diagnostic of [disease name].
• Other laboratory findings consistent with the diagnosis of [disease name] include [abnormal test 1], [abnormal test 2], and [abnormal test 3].

Electrocardiogram

There are no ECG findings associated with [disease name].

OR

An ECG may be helpful in the diagnosis of [disease name]. Findings on an ECG suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].

X-ray

There are no x-ray findings associated with [disease name].

OR

An x-ray may be helpful in the diagnosis of [disease name]. Findings on an x-ray suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].

OR

There are no x-ray findings associated with [disease name]. However, an x-ray may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].

Echocardiography or Ultrasound

There are no echocardiography/ultrasound findings associated with [disease name].

OR

Echocardiography/ultrasound may be helpful in the diagnosis of [disease name]. Findings on an echocardiography/ultrasound suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].

OR

There are no echocardiography/ultrasound findings associated with [disease name]. However, an echocardiography/ultrasound may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].

CT scan

There are no CT scan findings associated with [disease name].

OR

[Location] CT scan may be helpful in the diagnosis of [disease name]. Findings on CT scan suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].

OR

There are no CT scan findings associated with [disease name]. However, a CT scan may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].

MRI

There are no MRI findings associated with [disease name].

OR

[Location] MRI may be helpful in the diagnosis of [disease name]. Findings on MRI suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].

OR

There are no MRI findings associated with [disease name]. However, a MRI may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].

Other Imaging Findings

There are no other imaging findings associated with [disease name].

OR

[Imaging modality] may be helpful in the diagnosis of [disease name]. Findings on an [imaging modality] suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].

Other Diagnostic Studies

• [Disease name] may also be diagnosed using [diagnostic study name].
• Findings on [diagnostic study name] include [finding 1], [finding 2], and [finding 3].

Treatment

Medical Therapy

• The primary management of short stature should be to treat the underlying cause.

• If the short stature is caused due to a hormonal deficiency it should be managed with hormonal treatment.

• These include treating growth hormone deficiencies and constitutional growth delays with gonadotropin-releasing hormone analogues (GnRHa), aromatase inhibitors, recombinant human insulin-like growth factor- 1 (RhIGF-1), low-dose androgen therapy, recombinant human growth hormone (rhGH) etc.

• In addition to treating the underlying cause, patients should be provided with psychosocial counselling and support in order to help them cope with psychosocial distress as a result of their short stature.

Surgery

• Bone lengthening surgery is being performed not only for the treatment of dwarfism and/or skeletal deformities caused by congenital abnormalities, tumors and infections.

• The surgery is performed using Ilizarov method with circular external fixation. This is called cosmetic leg lengthening or symmetrical extended limb lengthening.

Prevention

• There are no primary preventive measures available for short stature.

• Once diagnosed it could be managed, with either medical or surgical options.