Short stature

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

WikiDoc Resources for Short stature
Articles
Most recent articles on Short stature Most cited articles on Short stature Review articles on Short stature Articles on Short stature in N Eng J Med, Lancet, BMJ
Media
Powerpoint slides on Short stature Images of Short stature Photos of Short stature Podcasts & MP3s on Short stature Videos on Short stature
Evidence Based Medicine
Cochrane Collaboration on Short stature Bandolier on Short stature TRIP on Short stature
Clinical Trials
Ongoing Trials on Short stature at Clinical Trials.gov Trial results on Short stature Clinical Trials on Short stature at Google
Guidelines / Policies / Govt
US National Guidelines Clearinghouse on Short stature NICE Guidance on Short stature NHS PRODIGY Guidance FDA on Short stature CDC on Short stature
Books
Books on Short stature
News
Short stature in the news Be alerted to news on Short stature News trends on Short stature
Commentary
Blogs on Short stature
Definitions
Definitions of Short stature
Patient Resources / Community
Patient resources on Short stature Discussion groups on Short stature Patient Handouts on Short stature Directions to Hospitals Treating Short stature Risk calculators and risk factors for Short stature
Healthcare Provider Resources
Symptoms of Short stature Causes & Risk Factors for Short stature Diagnostic studies for Short stature Treatment of Short stature
Continuing Medical Education (CME)
CME Programs on Short stature
International
Short stature en Espanol Short stature en Francais
Business
Short stature in the Marketplace Patents on Short stature
Experimental / Informatics
List of terms related to Short stature

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Short stature refers to a height of a human being which is below expected. Shortness is a vague term without a precise definition and with significant relativity to context. Because of the lack of preciseness, there is often disagreement about the degree of shortness that should be called short.

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].

Classification

There is no established system for the classification of [disease name].

OR

[Disease name] may be classified according to [classification method] into [number] subtypes/groups: [group1], [group2], [group3], and [group4].

OR

[Disease name] may be classified into [large number > 6] subtypes based on [classification method 1], [classification method 2], and [classification method 3]. [Disease name] may be classified into several subtypes based on [classification method 1], [classification method 2], and [classification method 3].

OR

Based on the duration of symptoms, [disease name] may be classified as either acute or chronic.

OR

If the staging system involves specific and characteristic findings and features: According to the [staging system + reference], there are [number] stages of [malignancy name] based on the [finding1], [finding2], and [finding3]. Each stage is assigned a [letter/number1] and a [letter/number2] that designate the [feature1] and [feature2].

OR

The staging of [malignancy name] is based on the [staging system].

OR

There is no established system for the staging of [malignancy name].

Pathophysiology

The exact pathogenesis of [disease name] is not fully understood.

OR

It is thought that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3].

OR

[Pathogen name] is usually transmitted via the [transmission route] route to the human host.

OR

Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.

OR

[Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].

OR

The progression to [disease name] usually involves the [molecular pathway].

OR

The pathophysiology of [disease/malignancy] depends on the histological subtype.

Causes

Disease name] may be caused by [cause1], [cause2], or [cause3].

OR

Common causes of [disease] include [cause1], [cause2], and [cause3].

OR

The most common cause of [disease name] is [cause 1]. Less common causes of [disease name] include [cause 2], [cause 3], and [cause 4].

OR

The cause of [disease name] has not been identified. To review risk factors for the development of [disease name], click here.

Differentiating ((Page name)) from other Diseases

[Disease name] must be differentiated from other diseases that cause [clinical feature 1], [clinical feature 2], and [clinical feature 3], such as [differential dx1], [differential dx2], and [differential dx3].

OR

[Disease name] must be differentiated from [[differential dx1], [differential dx2], and [differential dx3].

Epidemiology and Demographics

The incidence/prevalence of [disease name] is approximately [number range] per 100,000 individuals worldwide.

OR

In [year], the incidence/prevalence of [disease name] was estimated to be [number range] cases per 100,000 individuals worldwide.

OR

In [year], the incidence of [disease name] is approximately [number range] per 100,000 individuals with a case-fatality rate of [number range]%.

Patients of all age groups may develop [disease name].

OR

The incidence of [disease name] increases with age; the median age at diagnosis is [#] years.

OR

[Disease name] commonly affects individuals younger than/older than [number of years] years of age.

OR

[Chronic disease name] is usually first diagnosed among [age group].

OR

[Acute disease name] commonly affects [age group].

There is no racial predilection to [disease name].

OR

[Disease name] usually affects individuals of the [race 1] race. [Race 2] individuals are less likely to develop [disease name].

[Disease name] affects men and women equally.

OR

[Gender 1] are more commonly affected by [disease name] than [gender 2]. The [gender 1] to [gender 2] ratio is approximately [number > 1] to 1.

The majority of [disease name] cases are reported in [geographical region].

OR

[Disease name] is a common/rare disease that tends to affect [patient population 1] and [patient population 2].

Risk Factors

There are no established risk factors for [disease name].

OR

The most potent risk factor in the development of [disease name] is [risk factor 1]. Other risk factors include [risk factor 2], [risk factor 3], and [risk factor 4].

OR

Common risk factors in the development of [disease name] include [risk factor 1], [risk factor 2], [risk factor 3], and [risk factor 4].

OR

Common risk factors in the development of [disease name] may be occupational, environmental, genetic, and viral.

Screening

There is insufficient evidence to recommend routine screening for [disease/malignancy].

OR

According to the [guideline name], screening for [disease name] is not recommended.

OR

According to the [guideline name], screening for [disease name] by [test 1] is recommended every [duration] among patients with [condition 1], [condition 2], and [condition 3].

Natural History, Complications, and Prognosis

If left untreated, [#]% of patients with [disease name] may progress to develop [manifestation 1], [manifestation 2], and [manifestation 3].

OR

Common complications of [disease name] include [complication 1], [complication 2], and [complication 3].

OR

Prognosis is generally excellent/good/poor, and the 1/5/10-year mortality/survival rate of patients with [disease name] is approximately [#]%.

Diagnosis

Diagnostic Study of Choice

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], and [criterion 4].

OR

The diagnosis of [disease name] is based on the [criteria name] criteria, which include [criterion 1], [criterion 2], and [criterion 3].

OR

The diagnosis of [disease name] is based on the [definition name] definition, which includes [criterion 1], [criterion 2], and [criterion 3].

OR

There are no established criteria for the diagnosis of [disease name].

History and Symptoms

The majority of patients with [disease name] are asymptomatic.

OR

The hallmark of [disease name] is [finding]. A positive history of [finding 1] and [finding 2] is suggestive of [disease name]. The most common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3]. Common symptoms of [disease] include [symptom 1], [symptom 2], and [symptom 3]. Less common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3].

Physical Examination

Patients with [disease name] usually appear [general appearance]. Physical examination of patients with [disease name] is usually remarkable for [finding 1], [finding 2], and [finding 3].

OR

Common physical examination findings of [disease name] include [finding 1], [finding 2], and [finding 3].

OR

The presence of [finding(s)] on physical examination is diagnostic of [disease name].

OR

The presence of [finding(s)] on physical examination is highly suggestive of [disease name].

Laboratory Findings

An elevated/reduced concentration of serum/blood/urinary/CSF/other [lab test] is diagnostic of [disease name].

OR

Laboratory findings consistent with the diagnosis of [disease name] include [abnormal test 1], [abnormal test 2], and [abnormal test 3].

OR

[Test] is usually normal among patients with [disease name].

OR

Some patients with [disease name] may have elevated/reduced concentration of [test], which is usually suggestive of [progression/complication].

OR

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

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

There are no other diagnostic studies associated with [disease name].

OR

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

OR

Other diagnostic studies for [disease name] include [diagnostic study 1], which demonstrates [finding 1], [finding 2], and [finding 3], and [diagnostic study 2], which demonstrates [finding 1], [finding 2], and [finding 3].

Treatment

Medical Therapy

There is no treatment for [disease name]; the mainstay of therapy is supportive care.

OR

Supportive therapy for [disease name] includes [therapy 1], [therapy 2], and [therapy 3].

OR

The majority of cases of [disease name] are self-limited and require only supportive care.

OR

[Disease name] is a medical emergency and requires prompt treatment.

OR

The mainstay of treatment for [disease name] is [therapy].

OR   The optimal therapy for [malignancy name] depends on the stage at diagnosis.

OR

[Therapy] is recommended among all patients who develop [disease name].

OR

Pharmacologic medical therapy is recommended among patients with [disease subclass 1], [disease subclass 2], and [disease subclass 3].

OR

Pharmacologic medical therapies for [disease name] include (either) [therapy 1], [therapy 2], and/or [therapy 3].

OR

Empiric therapy for [disease name] depends on [disease factor 1] and [disease factor 2].

OR

Patients with [disease subclass 1] are treated with [therapy 1], whereas patients with [disease subclass 2] are treated with [therapy 2].

Surgery

Surgical intervention is not recommended for the management of [disease name].

OR

Surgery is not the first-line treatment option for patients with [disease name]. Surgery is usually reserved for patients with either [indication 1], [indication 2], and [indication 3]

OR

The mainstay of treatment for [disease name] is medical therapy. Surgery is usually reserved for patients with either [indication 1], [indication 2], and/or [indication 3].

OR

The feasibility of surgery depends on the stage of [malignancy] at diagnosis.

OR

Surgery is the mainstay of treatment for [disease or malignancy].

Primary Prevention

There are no established measures for the primary prevention of [disease name].

OR

There are no available vaccines against [disease name].

OR

Effective measures for the primary prevention of [disease name] include [measure1], [measure2], and [measure3].

OR

[Vaccine name] vaccine is recommended for [patient population] to prevent [disease name]. Other primary prevention strategies include [strategy 1], [strategy 2], and [strategy 3].

Secondary Prevention

There are no established measures for the secondary prevention of [disease name].

OR

Effective measures for the secondary prevention of [disease name] include [strategy 1], [strategy 2], and [strategy 3].

References

Template:WikiDoc Sources

Causes

Shortness in children and young adults nearly always results from below-average growth in childhood, while shortness in older adults usually results from loss of height due to kyphosis of the spine or collapsed vertebrae from osteoporosis.

From a medical perspective, severe shortness can be a variation of normal, resulting from the interplay of multiple familial genes. It can also be due to one or more of many abnormal conditions, such as chronic (prolonged) hormone deficiency, malnutrition, disease of a major organ system, mistreatment, treatment with certain drugs, chromosomal deletions, inherited diseases, birth defect syndromes, bone structures fusing earlier than intended or many other causes.

HGH deficiency may occur at any time during infancy or childhood, with the most obvious sign being a noticeable slowing of growth. The deficiency may be genetic.

Increasing final height in children with short stature may be beneficial and could enhance HRQoL outcomes barring troublesome side effects and excessive cost of treatments.

Disproportionate short stature (Specific kind of Short stature) Shortcut to causes of Disproportionate short stature Precocious puberty (Specific kind of Short stature) Shortcut to causes of Precocious puberty Proportionate short stature (Specific kind of Short stature) Shortcut to causes of Proportionate short stature

Miscellaneous conditions

Malabsorption syndrome Osteomalacia Renal failure, chronic

Symptoms and signs

Hydrocephalus

Congenital conditions

Acrodermatitis enteropathica Adiposogenital dystrophy Beuren-Williams syndrome Coffin syndrome 1 Combined pituitary hormone deficiency 5 (HESX1 gene) Corpus callosum hypoplasia Crome syndrome Fallot tetralogy Floating-Harbor syndrome Hallermann-Streiff syndrome (HSS) Hypothyroidism, congenital Multiple pterygium syndrome Nicolaides-Baraitser syndrome Onat syndrome Patent ductus arteriosus Periodic hyperlysinemia Russell-Silver dwarfism Tricho-thiodystrophy Xeroderma pigmentosum

Intrauterine acquired conditions

Intrauterine growth retardation

Chromosomal abnormalities

Brachydactyly-mental retardation syndrome Chromosome 10q deletion syndrome Chromosome 14 ring syndrome Chromosome 15 ring syndrome Chromosome 15q deletion syndrome Chromosome 20 ring syndrome Chromosome 4 ring syndrome Chromosome 6 ring syndrome Cri du chat syndrome 5p- Deletion of short arm of chromosome 18 Down syndrome Emanuel syndrome Miller-Dieker syndrome Prader-Willi syndrome Smith-Magenis syndrome Velocardiofacial syndrome Wolf-Hirschhorn syndrome XX male syndrome

Mendelian inherited conditions

Aspartylglucosaminuria Bardet-Biedl syndrome Beta thalassaemia (heterozygous) Carbamoylphosphate synthetase deficiency Complement 5 deficiency Haemoglobin E disease Hereditary sensorimotor neuropathy type 3 Kenny-Caffey-Linarelli syndrome Leri-Weill dyschondrosteosis Maple syrup urine disease Nonbullous congenital ichthyosiform erythroderma Say-Meyer syndrome Sickle cell disease Silver syndrome Weill-Marchesani syndrome

Autosomal dominant conditions

4-hydroxyphenylpyruvate hydroxylase deficiency Branchio-oculo-facial syndrome CHARGE syndrome Cleidocranial dysplasia C-like syndrome Hischsprung disease-microcephaly-mental retardation syndrome Kabuki make-up syndrome Lenz-Majewski hyperostosis syndrome Multiple lentigines syndrome Neurofibromatosis-Noonan syndrome Osteogenesis imperfecta Pitt-Hopkins syndrome Pseudohypoaldosteronism type 1, autosomal dominant Pseudohypoparathyroidism type 1a Pseudopseudohypoparathyroidism Rubinstein-Taybi syndrome Tarsal-carpal coalition syndrome Trichorhinophalangeal syndrome type 3 Trismus pseudocamptodactyly syndrome Velocardiofacial syndrome Weismann-Netter-Stuhl syndrome

Autosomal recessive conditions

3-Hydroxyisobutyric aciduria 3M syndrome Aase syndrome Abetalipoproteinaemia Adenylosuccinate lyase deficiency Alpha-L-iduronidase deficiency (Hurler syndrome) Aminomethyltransferase deficiency Arginine:glycine amidinotransferase deficiency Aspartoacylase deficiency ATP6V0A2-related cutis laxa Baller-Gerold syndrome Bartter syndrome Bloom syndrome Bonnet-Dechaume-Blanc syndrome Bowen-Conradi syndrome C21-hydroxylase deficiency Carbamoylphosphate synthetase deficiency Carbohydrate deficient glycoprotein syndrome type 1a Carbonic anhydrase type 2 deficiency Carey-Fineman-Ziter syndrome CCFDN syndrome Cholesterol ester storage disease Chylomicron retention disease Cockayne syndrome Craniomandibular dermatodysostosis Cystic fibrosis Cystinosis De Barsy syndrome Desmosterolosis D-glycerate kinase deficiency Dibasic aminoaciduria type 2 Donohue syndrome Ellis-van Creveld syndrome Faciocardiorenal syndrome Fanconi anaemia Fibrochondrogenesis Filippi syndrome Fucosidosis Galactosamine-6-sulfatase deficiency Galactose epimerase deficiency Galactosialidosis Gangliosidosis GM1, type 1 Gangliosidosis GM2, type 1 Gaucher disease Geleophysic dysplasia Geroderma osteodysplastica Glycine decarboxylase deficiency Glycogenosis type 1a GRACILE syndrome Hereditary orotic aciduria Hereditary sensory and autonomic neuropathy type 3 Hurst microtia-absent patellae-micrognathia syndrome Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome Hyperostosis corticalis deformans juvenilis Intestinal enteropeptidase deficiency Isobutyryl-CoA dehydrogenase deficiency Jeune thoracic dystrophy syndrome Johanson-Blizzard syndrome Kartagener syndrome Majeed syndrome Marden-Walker syndrome Martsolf syndrome Metaphyseal chondrodysplasia, McKusick type Methylmalonic acidemia and homocystinuria, cblC type Mevalonate kinase deficiency Microcephaly, primary autosomal recessive, type 1 Mitochondrial DNA depletion syndrome, hepatocerebral form Mucolipidosis II alpha/beta Mucolipidosis III alpha/beta Mucolipidosis III gamma Mucopolysaccharidosis IX Mucopolysaccharidosis VII Nephropathic early-onset cystinosis Neuhauser syndrome Niemann-Pick disease type B Nijmegen chromosome breakage syndrome Opitz trigonocephaly syndrome Pitt-Rogers-Danks syndrome Progressive familial intrahepatic cholestasis type 1 Pseudohypoaldosteronism type 1, autosomal recessive Pyknodysostosis Ramon syndrome RAPADILINO syndrome S-adenosylhomocysteine hydrolase deficiency Sanjad-Sakati syndrome Schwartz-Jampel-Aberfeld syndrome Short chain acyl-CoA dehydrogenase deficiency SHORT syndrome Succinyl-CoA synthetase deficiency Systemic hyalinosis Tyrosinaemia type 1 Werner syndrome Yunis-Varon syndrome

X-linked inherited conditions

Aarskog syndrome Atkin-Flaitz-Patil syndrome Barth syndrome BRESHECK syndrome Coffin-Lowry syndrome Creatine deficiency syndrome, X-linked Dwarfism-cerebral atrophy-keratosis follicularis syndrome Gangliosidosis GM3 Glycerol kinase deficiency Iduronate-2-sulfatase deficiency Menkes disease Microphthalmia-dermal aplasia-sclerocornea syndrome Opitz-Kaveggia syndrome Ornithine carbamyltransferase deficiency Otopalatodigital syndrome type 2 Pelizaeus-Merzbacher disease Renpenning syndrome 1 X-linked hypophosphataemia X-linked mental retardation-hypotonic facies syndrome Young-Hughes syndrome

Mitochondrial genome inherited conditions

MELAS

Nutritional conditions

Kwashiorkor Malabsorption syndrome Marasmus

Autoimmune conditions

Diabetes mellitus type 1

Inflammatory conditions

Celiac disease

Neoplastic conditions

Histiocytosis X

Obstetric conditions

Intrauterine growth retardation Premature labour and/or delivery

Respiratory conditions

Bronchial asthma Bronchiectasis

Trauma, mechanical and physical conditions

Child abuse Choledochal cyst Sexual abuse

Infection and infective conditions

Tonsillitis Urinary tract infection

Helminths and helminthic conditions

Ascariasis

Bacteria and bacterial conditions

Mycobacterium tuberculosis

Drug groups

Cytotoxic therapeutic agents

Drugs, hormones and mediators

Prednisolone

Ciclesonide

Epidemiology and Demographics

The American Association of Clinical Endocrinologists defines "short stature" as height more than 2 standard deviations below the mean for age and gender, which corresponds to the shortest 2.3% of individuals.