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{{Infobox disease |
__NOTOC__
  Name          = Short stature |
  Image          = |
  Caption        = |
  DiseasesDB    = 18756 |
  ICD10          = {{ICD10|E|34|3|e|20}} |
  ICD9          = {{ICD9|783.43}} |
  ICDO          = |
  OMIM          = |
  MedlinePlus    = 003271 |
  eMedicineSubj  = |
  eMedicineTopic = |
  MeshID        = |
}}
{{SI}}
{{SI}}
{{CMG}}
{{CMG}}; {{AE}} {{AyeshaFJ}}


{{SK}}
==Overview==
==Overview==
'''Short stature''' is defined as a condition in which the height of an individual is in the 3rd percentile for the mean height of a given 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.” <ref name="pmid32310491">{{cite journal| author=| title=StatPearls | journal= | year= 2020 | volume=  | issue=  | pages=  | pmid=32310491 | doi= | pmc= | url= }} </ref>
'''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]].” <ref name="pmid32310491">{{cite journal| author=| title=StatPearls | journal= | year= 2020 | volume=  | issue=  | pages=  | pmid=32310491 | doi= | pmc= | url= }} </ref> <ref name="pmidPMID: 31855368">{{cite journal| author=| title=StatPearls | journal= | year= 2020 | volume=  | issue=  | pages=  | pmid=PMID: 31855368 | doi= | pmc= | url= }} </ref>
 
==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]].<ref name="pmidPMID: 30606190">{{cite journal| author=Pauli RM| title=Achondroplasia: a comprehensive clinical review. | journal=Orphanet J Rare Dis | year= 2019 | volume= 14 | issue= 1 | pages= 1 | pmid=PMID: 30606190 | doi=10.1186/s13023-018-0972-6 | pmc=6318916 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=30606190  }} </ref>
 
* In 1994, Dr. John Wasmoth and his team discovered the cause of [[achondroplasia]] while researching the topic of [[dwarfism]].<ref name="pmidPMID: 7913883">{{cite journal| author=Shiang R, Thompson LM, Zhu YZ, Church DM, Fielder TJ, Bocian M | display-authors=etal| title=Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. | journal=Cell | year= 1994 | volume= 78 | issue= 2 | pages= 335-42 | pmid=PMID: 7913883 | doi=10.1016/0092-8674(94)90302-6 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7913883  }} </ref>
 
==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]]. <ref name="pmidPMID: 32310491">{{cite journal| author=| title=StatPearls | journal= | year= 2020 | volume=  | issue=  | pages=  | pmid=PMID: 32310491 | doi= | pmc= | url= }} </ref>
====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]]. <ref name="pmidPMID: 32310491">{{cite journal| author=| title=StatPearls | journal= | year= 2020 | volume=  | issue=  | pages=  | pmid=PMID: 32310491 | doi= | pmc= | url= }} </ref>
 
== Pathophysiology ==
* [[Short stature]] may be [[normal]]; therefore a detailed [[family history]] of [[growth]] patterns and direct [[measurement]] of the parents is an important part of evaluating if the [[short stature]] is due to the [[genetic]] [[causes]] and potentials of the [[child]].<ref name="pmidPMID: 32310491">{{cite journal| author=| title=StatPearls | journal= | year= 2020 | volume=  | issue=  | pages=  | pmid=PMID: 32310491 | doi= | pmc= | url= }} </ref>
* If the [[Short stature]] results from [[growth]] [[failure]] or [[premature]] closure of the [[epiphysial]] [[growth plates]], it [[secondary]] to a [[pathologic]] [[condition]] or due to an [[inherited]] [[disorder]]. Therefore, [[pathophysiology]] depends on the underlying [[cause]].<ref name="pmidPMID: 32310491">{{cite journal| author=| title=StatPearls | journal= | year= 2020 | volume=  | issue=  | pages=  | pmid=PMID: 32310491 | doi= | pmc= | url= }} </ref>


==Causes==
==Causes==
Shortness in children and young adults nearly always results from below-average [[Human development (biology)|growth]] in childhood, while shortness in older adults usually results from loss of height due to [[kyphosis]] of the [[vertebral column|spine]] or collapsed [[vertebra]]e from [[osteoporosis]].
=== Physiological causes of short stature ===
====Familial short stature====
* In [[familial]] [[short stature]], [[individuals]] have low-normal [[height]] [[velocity]] throughout their life.<ref name="pmidPMID: 32644549">{{cite journal| author=| title=StatPearls | journal= | year= 2020 | volume=  | issue=  | pages=  | pmid=PMID: 32644549 | doi= | pmc= | url= }} </ref>
 
* They have [[normal]] [[height]] [[velocity]] which distinguishes them from the [[pathologic]] [[causes]] of [[short stature]].<ref name="pmidPMID: 32644549">{{cite journal| author=| title=StatPearls | journal= | year= 2020 | volume=  | issue=  | pages=  | pmid=PMID: 32644549 | doi= | pmc= | url= }} </ref>
 
* Also, they can be distinguished from the [[individuals]] with [[constitutional growth delay]], as their [[bone age]] is in accordance to their [[chronologic age]]. <ref name="pmidPMID: 32644549">{{cite journal| author=| title=StatPearls | journal= | year= 2020 | volume=  | issue=  | pages=  | pmid=PMID: 32644549 | doi= | pmc= | url= }} </ref>
 
====Constitutional delay of growth and puberty ====
* [[Constitutional delay]] of [[growth]] and [[puberty]] (CDGP) is also called [[constitutional]] [[short stature]] for [[pre-pubertal]] [[children]], results in [[childhood]] [[short stature]] but leads to relatively [[normal]] [[height]] in adulthood.<ref name="pmidPMID: 23087852">{{cite journal| author=Soliman AT, De Sanctis V| title=An approach to constitutional delay of growth and puberty. | journal=Indian J Endocrinol Metab | year= 2012 | volume= 16 | issue= 5 | pages= 698-705 | pmid=PMID: 23087852 | doi=10.4103/2230-8210.100650 | pmc=3475892 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23087852  }} </ref>
 
* [[Children]] are of [[normal]] [[size]] at [[birth]]. However, a [[severe]] and [[prolonged]] decrease in [[growth rate]] is observed starting at three to six months of [[age]].<ref name="pmidPMID: 23087852">{{cite journal| author=Soliman AT, De Sanctis V| title=An approach to constitutional delay of growth and puberty. | journal=Indian J Endocrinol Metab | year= 2012 | volume= 16 | issue= 5 | pages= 698-705 | pmid=PMID: 23087852 | doi=10.4103/2230-8210.100650 | pmc=3475892 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23087852  }} </ref>
 
* By three or four years of age, [[children]] with CDGP usually are growing at a low-normal [[rate]]. The [[growth curve]] that remains below the third percentile for [[height]].<ref name="pmidPMID: 23087852">{{cite journal| author=Soliman AT, De Sanctis V| title=An approach to constitutional delay of growth and puberty. | journal=Indian J Endocrinol Metab | year= 2012 | volume= 16 | issue= 5 | pages= 698-705 | pmid=PMID: 23087852 | doi=10.4103/2230-8210.100650 | pmc=3475892 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23087852  }} </ref>
 
* In addition [[children]] also have delayed [[pubertal]] maturation. This leads to a marked [[height]] discrepancy during the early teenage years compared with their peers but is followed by catch-up [[growth]] when they do enter [[puberty]]. The hallmark of CDGP is delayed skeletal age.<ref name="pmidPMID: 23087852">{{cite journal| author=Soliman AT, De Sanctis V| title=An approach to constitutional delay of growth and puberty. | journal=Indian J Endocrinol Metab | year= 2012 | volume= 16 | issue= 5 | pages= 698-705 | pmid=PMID: 23087852 | doi=10.4103/2230-8210.100650 | pmc=3475892 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23087852  }} </ref>
 
====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]].<ref name="pmidPMID: 23745354">{{cite journal| author=Vlaski J, Katanić D, Privrodski JJ, Kavecan I, Vorguicn I, Obrenović M| title=[Idiopathic short stature]. | journal=Srp Arh Celok Lek | year= 2013 | volume= 141 | issue= 3-4 | pages= 256-61 | pmid=PMID: 23745354 | doi=10.2298/sarh1304256v | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23745354  }} </ref>
 
* These children are at the lower limit of the [[normal]] [[height]] [[velocity]], with normal [[lab]] [[findings]]. <ref name="pmidPMID: 23745354">{{cite journal| author=Vlaski J, Katanić D, Privrodski JJ, Kavecan I, Vorguicn I, Obrenović M| title=[Idiopathic short stature]. | journal=Srp Arh Celok Lek | year= 2013 | volume= 141 | issue= 3-4 | pages= 256-61 | pmid=PMID: 23745354 | doi=10.2298/sarh1304256v | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23745354  }} </ref>
 
====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]]. <ref name="pmidPMID: 11566651">{{cite journal| author=Fewtrell MS, Morley R, Abbott RA, Singhal A, Stephenson T, MacFadyen UM | display-authors=etal| title=Catch-up growth in small-for-gestational-age term infants: a randomized trial. | journal=Am J Clin Nutr | year= 2001 | volume= 74 | issue= 4 | pages= 516-23 | pmid=PMID: 11566651 | doi=10.1093/ajcn/74.4.516 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11566651  }} </ref>
* About 10 percent of [[SGA]] [[infants]], particularly those born with more severe [[SGA]], do not experience catch-up [[growth]]. This group of [[SGA]]infants can be considered to have a pathologic pattern of growth. <ref name="pmidPMID: 11566651">{{cite journal| author=Fewtrell MS, Morley R, Abbott RA, Singhal A, Stephenson T, MacFadyen UM | display-authors=etal| title=Catch-up growth in small-for-gestational-age term infants: a randomized trial. | journal=Am J Clin Nutr | year= 2001 | volume= 74 | issue= 4 | pages= 516-23 | pmid=PMID: 11566651 | doi=10.1093/ajcn/74.4.516 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11566651  }} </ref>
 
=== Pathologic causes of short stature ===
==== Systemic disorders with secondary effects on growth ====
===== Malnutrition =====
* Malnutrition can lead to [[short stature]] with a delayed pattern of growth. The hallmark is low weight-for-height.
 
* Malnutrition can be due to inadequate food supply, or it may be due to an underlying condition which affects food intake or absorption or increases energy requirement of the body. <ref name="pmidPMID: 12522024">{{cite journal| author=Checkley W, Epstein LD, Gilman RH, Cabrera L, Black RE| title=Effects of acute diarrhea on linear growth in Peruvian children. | journal=Am J Epidemiol | year= 2003 | volume= 157 | issue= 2 | pages= 166-75 | pmid=PMID: 12522024 | doi=10.1093/aje/kwf179 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12522024  }} </ref> <ref name="pmidPMID: 24353507">{{cite journal| author=Waqar Rabbani M, Imran Khan W, Bilal Afzal A, Rabbani W| title=Causes of short stature identified in children presenting at a tertiary care hospital in Multan Pakistan. | journal=Pak J Med Sci | year= 2013 | volume= 29 | issue= 1 | pages= 53-7 | pmid=PMID: 24353507 | doi=10.12669/pjms.291.2688 | pmc=3809182 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24353507  }} </ref>
===== Glucocorticoid therapy =====
* [[Glucocorticoids]] are used for the [[treatment]] of a variety of [[diseases]] in [[children]], such as [[asthma]], leading to [[growth failure]] in [[children]]. <ref name="pmidPMID: 24353507">{{cite journal| author=Waqar Rabbani M, Imran Khan W, Bilal Afzal A, Rabbani W| title=Causes of short stature identified in children presenting at a tertiary care hospital in Multan Pakistan. | journal=Pak J Med Sci | year= 2013 | volume= 29 | issue= 1 | pages= 53-7 | pmid=PMID: 24353507 | doi=10.12669/pjms.291.2688 | pmc=3809182 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24353507  }} </ref>
 
* [[Glucocorticoids]] can interfere with [[endogenous]] [[growth hormone]] [[secretion]] and action, [[bone]] [[formation]], [[nitrogen]] [[retention]], and [[collagen formation]]. <ref name="pmidPMID 8879994">{{cite journal| author=Allen DB| title=Growth suppression by glucocorticoid therapy. | journal=Endocrinol Metab Clin North Am | year= 1996 | volume= 25 | issue= 3 | pages= 699-717 | pmid=PMID 8879994 | doi=10.1016/s0889-8529(05)70348-0 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8879994  }} </ref>
 
* The [[growth effects]] of [[glucocorticoids]] are related to the [[type]], [[dose]], and [[duration]] of the [[exposure]]. If [[glucocorticoids]] are discontinued, [[children]] usually experience some catch-up growth. [[Growth impairment]] is more pronounced if it is given for a [[longer]] [[duration of action]] and when it is used daily as compared with an alternate-day [[regimen]].<ref name="pmidPMID: 24353507">{{cite journal| author=Waqar Rabbani M, Imran Khan W, Bilal Afzal A, Rabbani W| title=Causes of short stature identified in children presenting at a tertiary care hospital in Multan Pakistan. | journal=Pak J Med Sci | year= 2013 | volume= 29 | issue= 1 | pages= 53-7 | pmid=PMID: 24353507 | doi=10.12669/pjms.291.2688 | pmc=3809182 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24353507  }} </ref>
 
===== Gastrointestinal disease =====
* Some [[chronic]] [[gastrointestinal]] [[diseases]] such as [[Inflammatory bowel disease]] and [[celiac disease]] results in [[short stature]]. [[Children]] tend to have a greater [[decrease]] in [[weight]] than the [[height]] (ie, they are underweight-for-height).
 
* The [[growth failure]] is caused by the [[inflammatory]] [[disease]] process, as well as decreased [[food intake]], [[malabsorption]], or [[glucocorticoids]].
 
===== Rheumatologic disease =====
* [[Childhood]] [[rheumatologic diseases]], especially [[systemic juvenile idiopathic arthritis]], are frequently associated with [[growth retardation]].<ref name="pmidPMID 29940586">{{cite journal| author=de Zegher F, Reynaert N, De Somer L, Wouters C, Roelants M| title=Growth Failure in Children with Systemic Juvenile Idiopathic Arthritis and Prolonged Inflammation despite Treatment with Biologicals: Late Normalization of Height by Combined Hormonal Therapies. | journal=Horm Res Paediatr | year= 2018 | volume= 90 | issue= 5 | pages= 337-343 | pmid=PMID 29940586 | doi=10.1159/000489778 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29940586  }} </ref>


From a medical perspective, severe shortness can be a [[human variability|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, [[chromosome|chromosomal]] deletions, [[genetic disease|inherited diseases]],  [[birth defect]] [[syndrome]]s, bone structures fusing earlier than intended or many other causes.
* This can be partly due to the [[inflammatory]] process driven by the [[proinflammatory]] [[cytokines]] and also caused by the high-dose [[glucocorticoids]] often used for [[management]].<ref name="pmidPMID 19940490">{{cite journal| author=Bechtold S, Roth J| title=Natural history of growth and body composition in juvenile idiopathic arthritis. | journal=Horm Res | year= 2009 | volume= 72 Suppl 1 | issue= | pages= 13-9 | pmid=PMID 19940490 | doi=10.1159/000229758 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19940490  }} </ref>


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.
===== Chronic kidney disease =====
* [[Growth failure]] is seen in at least one-third of [[children]] with [[chronic kidney disease]]. <ref name="pmidPMID: 18797585">{{cite journal| author=Oliveira JC, Siviero-Miachon AA, Spinola-Castro AM, Belangero VM, Guerra-Junior G| title=[Short stature in chronic kidney disease: physiopathology and treatment with growth hormone]. | journal=Arq Bras Endocrinol Metabol | year= 2008 | volume= 52 | issue= 5 | pages= 783-91 | pmid=PMID: 18797585 | doi=10.1590/s0004-27302008000500010 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18797585  }} </ref>


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.<ref name="urlHeight and Health-related Quality of Life">{{cite web |url=http://gghjournal.com/volume24/1/ab09.cfm |title=Height and Health-related Quality of Life |format= |work= |accessdate=}}</ref>
* The [[primary]] [[causes]] of [[growth failure]] in [[children]] with [[chronic kidney disease]] are disturbances of [[growth hormone]] [[metabolism]] and its main [[mediator]], [[insulin-like growth factor 1]] ([[IGF-1]]). <ref name="pmidPMID: 18797585">{{cite journal| author=Oliveira JC, Siviero-Miachon AA, Spinola-Castro AM, Belangero VM, Guerra-Junior G| title=[Short stature in chronic kidney disease: physiopathology and treatment with growth hormone]. | journal=Arq Bras Endocrinol Metabol | year= 2008 | volume= 52 | issue= 5 | pages= 783-91 | pmid=PMID: 18797585 | doi=10.1590/s0004-27302008000500010 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18797585  }} </ref>


Disproportionate short stature
*Other factors may include [[metabolic acidosis]], [[uremia]], poor [[nutrition]] secondary to [[dietary]] restrictions, [[anorexia]] of [[chronic]] illness, [[anemia]], [[calcium]] and [[phosphorus]] imbalance, renal osteodystrophy, or use of high-dose [[glucocorticoids]]. Affected [[patients]] are candidates for [[growth hormone]] [[therapy]] until [[renal transplantation]], and some of these [[patients]] may also benefit from [[growth hormone]] [[therapy]] after [[transplantation]]. <ref name="pmidPMID: 18797585">{{cite journal| author=Oliveira JC, Siviero-Miachon AA, Spinola-Castro AM, Belangero VM, Guerra-Junior G| title=[Short stature in chronic kidney disease: physiopathology and treatment with growth hormone]. | journal=Arq Bras Endocrinol Metabol | year= 2008 | volume= 52 | issue= 5 | pages= 783-91 | pmid=PMID: 18797585 | doi=10.1590/s0004-27302008000500010 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18797585  }} </ref> <ref name="pmidPMID: 16773402">{{cite journal| author=Mahan JD, Warady BA, Consensus Committee| title=Assessment and treatment of short stature in pediatric patients with chronic kidney disease: a consensus statement. | journal=Pediatr Nephrol | year= 2006 | volume= 21 | issue= 7 | pages= 917-30 | pmid=PMID: 16773402 | doi=10.1007/s00467-006-0020-y | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16773402  }} </ref>
(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
===== Cancer =====
* [[Children]] with [[cancer]] have poor [[growth rate]] due to poor food intake, [[nausea]], [[vomiting]], and [[increased]] [[caloric]] [[utilization]].<ref name="pmidPMID 18059086">{{cite journal| author=Nandagopal R, Laverdière C, Mulrooney D, Hudson MM, Meacham L| title=Endocrine late effects of childhood cancer therapy: a report from the Children's Oncology Group. | journal=Horm Res | year= 2008 | volume= 69 | issue= 2 | pages= 65-74 | pmid=PMID 18059086 | doi=10.1159/000111809 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18059086  }} </ref> <ref name="pmidPMID 2893877">{{cite journal| author=Clayton PE, Shalet SM, Morris-Jones PH, Price DA| title=Growth in children treated for acute lymphoblastic leukaemia. | journal=Lancet | year= 1988 | volume= 1 | issue= 8583 | pages= 460-2 | pmid=PMID 2893877 | doi=10.1016/s0140-6736(88)91246-9 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2893877  }} </ref>


Malabsorption syndrome
* Also, [[anorexia]], [[nausea]], and [[vomiting]] induced by [[chemotherapy]] and [[radiotherapy]] also can contribute to impaired [[growth]].<ref name="pmidPMID 18059086">{{cite journal| author=Nandagopal R, Laverdière C, Mulrooney D, Hudson MM, Meacham L| title=Endocrine late effects of childhood cancer therapy: a report from the Children's Oncology Group. | journal=Horm Res | year= 2008 | volume= 69 | issue= 2 | pages= 65-74 | pmid=PMID 18059086 | doi=10.1159/000111809 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18059086  }} </ref> <ref name="pmidPMID 2893877">{{cite journal| author=Clayton PE, Shalet SM, Morris-Jones PH, Price DA| title=Growth in children treated for acute lymphoblastic leukaemia. | journal=Lancet | year= 1988 | volume= 1 | issue= 8583 | pages= 460-2 | pmid=PMID 2893877 | doi=10.1016/s0140-6736(88)91246-9 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2893877  }} </ref>
Osteomalacia
Renal failure, chronic


Symptoms and signs
===== Pulmonary disease =====
* In [[pulmonary diseases]], such as [[cystic fibrosis]], [[growth failure]] is caused by multiple mechanisms, including poor food intake, [[maldigestion]] or [[malabsorption]], [[chronic]] and [[recurrent]] [[infection]], and [[increased]] [[energy]] requirements.<ref name="pmidPMID 1872173">{{cite journal| author=Karlberg J, Kjellmer I, Kristiansson B| title=Linear growth in children with cystic fibrosis. I. Birth to 8 years of age. | journal=Acta Paediatr Scand | year= 1991 | volume= 80 | issue= 5 | pages= 508-14 | pmid=PMID 1872173 | doi=10.1111/j.1651-2227.1991.tb11894.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1872173  }} </ref>


Hydrocephalus
* In [[asthma]], [[growth failure]] is usually due to the use of [[glucocorticoids]] for the [[treatment]]. <ref name="pmidPMID: 24353507">{{cite journal| author=Waqar Rabbani M, Imran Khan W, Bilal Afzal A, Rabbani W| title=Causes of short stature identified in children presenting at a tertiary care hospital in Multan Pakistan. | journal=Pak J Med Sci | year= 2013 | volume= 29 | issue= 1 | pages= 53-7 | pmid=PMID: 24353507 | doi=10.12669/pjms.291.2688 | pmc=3809182 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24353507  }} </ref>


Congenital conditions
===== Cardiac disease =====
* In [[severe]] [[congenital heart diseases]], [[growth failure]] is common. Sometimes, it is the presenting feature of the [[heart disease]].<ref name="pmidPMID 1623850">{{cite journal| author=Thommessen M, Heiberg A, Kase BF| title=Feeding problems in children with congenital heart disease: the impact on energy intake and growth outcome. | journal=Eur J Clin Nutr | year= 1992 | volume= 46 | issue= 7 | pages= 457-64 | pmid=PMID 1623850 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1623850  }} </ref>


Acrodermatitis enteropathica
* The major causes include, [[anorexia]] and increased basal energy requirements. <ref name="pmidPMID 1623850">{{cite journal| author=Thommessen M, Heiberg A, Kase BF| title=Feeding problems in children with congenital heart disease: the impact on energy intake and growth outcome. | journal=Eur J Clin Nutr | year= 1992 | volume= 46 | issue= 7 | pages= 457-64 | pmid=PMID 1623850 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1623850  }} </ref>
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
===== Immunologic disease =====


Intrauterine growth retardation
* Growth failure is associated with immunologic deficiencies such as common variable immunodeficiency or severe combined immunodeficiency syndrome, and infections such as HIV.<ref name="pmidPMID: 29763203">{{cite journal| author=| title=StatPearls | journal= | year= 2020 | volume=  | issue=  | pages=  | pmid=PMID: 29763203 | doi= | pmc= | url= }} </ref>


Chromosomal abnormalities
===== Metabolic diseases =====
[[Metabolic disorders]] can lead to [[growth failure]] in [[children]] and [[adolescents]].


Brachydactyly-mental retardation syndrome
* The most common [[metabolic disorder]] in [[children]] is [[type 1 diabetes mellitus]]. It causes [[short stature]] and attenuated [[growth]] because of the [[caloric deficit]] resulting from severe [[glucosuria]]. Also,  [[type 1 diabetes]] causes a decrease in [[IGF-1]] production or action, which has a negative correlation with [[adult]] [[height]]. [[Diabetes]] with very poor [[glycemic]] control leads to [[Mauriac syndrome]], characterized by attenuated [[linear growth]], and delayed [[puberty]], [[hepatomegaly]], and [[Cushingoid]] features.
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
* [[Vitamin D]] [[deficiency]] can lead to [[rickets]] in [[children]] characterized by abnormal [[epiphyseal]] [[development]], bowing of the [[extremities]], and diminished [[growth]].


Aspartylglucosaminuria
====Genetic Causes====
Bardet-Biedl syndrome
Several genetic disorders have prominent effects on growth.
Beta thalassaemia (heterozygous)
* [[Turner's Syndrome]] <ref name="pmidPMID: 26191517">{{cite journal| author=Seo GH, Kang E, Cho JH, Lee BH, Choi JH, Kim GH | display-authors=etal| title=Turner syndrome presented with tall stature due to overdosage of the SHOX gene. | journal=Ann Pediatr Endocrinol Metab | year= 2015 | volume= 20 | issue= 2 | pages= 110-3 | pmid=PMID: 26191517 | doi=10.6065/apem.2015.20.2.110 | pmc=4504991 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26191517  }} </ref>
Carbamoylphosphate synthetase deficiency
* [[SHOX]] [[gene variant]] <ref name="pmid17182655">{{cite journal| author=Rappold G, Blum WF, Shavrikova EP, Crowe BJ, Roeth R, Quigley CA | display-authors=etal| title=Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency. | journal=J Med Genet | year= 2007 | volume= 44 | issue= 5 | pages= 306-13 | pmid=17182655 | doi=10.1136/jmg.2006.046581 | pmc=2597980 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17182655  }} </ref>
Complement 5 deficiency
* [[Prader-Willi Syndrome]] <ref name="pmidPMID: 16128248">{{cite journal| author=Monzavi R, Fefferman RA, Pitukcheewanont P| title=Prader-Willi syndrome and mosaic Turner's syndrome. | journal=J Pediatr Endocrinol Metab | year= 2005 | volume= 18 | issue= 7 | pages= 711-7 | pmid=PMID: 16128248 | doi=10.1515/jpem.2005.18.7.711 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16128248  }} </ref>
Haemoglobin E disease
* [[Noonan syndrome]] <ref name="pmidPMID: 30335302">{{cite journal| author=| title=StatPearls | journal= | year= 2020 | volume=  | issue=  | pages=  | pmid=PMID: 30335302 | doi= | pmc= | url= }} </ref>
Hereditary sensorimotor neuropathy type 3
* [[Silver-Russell syndrome]] <ref name="pmidPMID: 32310491">{{cite journal| author=| title=StatPearls | journal= | year= 2020 | volume=  | issue=  | pages=  | pmid=PMID: 32310491 | doi= | pmc= | url= }} </ref>
Kenny-Caffey-Linarelli syndrome
* [[Skeletal dysplasia]]/[[growth plate]] [[abnormalities]] <ref name="pmidPMID: 25905353">{{cite journal| author=Feingold KR, Anawalt B, Boyce A, Chrousos G, de Herder WW, Dungan K | display-authors=etal| title=Endotext | journal= | year= 2000 | volume=  | issue=  | pages=  | pmid=PMID: 25905353 | doi= | pmc= | url= }} </ref>
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
====Endocrine Causes====
* Cushing syndrome: [[Cushing syndrome]] results in [[increased]] [[glucocorticoids]] and is characterized by the combination of [[weight gain]] and [[growth retardation]], resulting in [[excessive]] [[weight]]-for-[[height]]. [[Glucocorticoids]] directly inhibits the development of [[epiphyseal]] [[cartilage]] in [[growing]] [[long bones]] resulting in [[growth retardation]].<ref name="pmidPMID: 24412141">{{cite journal| author=Lodish MB, Gourgari E, Sinaii N, Hill S, Libuit L, Mastroyannis S | display-authors=etal| title=Skeletal maturation in children with Cushing syndrome is not consistently delayed: the role of corticotropin, obesity, and steroid hormones, and the effect of surgical cure. | journal=J Pediatr | year= 2014 | volume= 164 | issue= 4 | pages= 801-6 | pmid=PMID: 24412141 | doi=10.1016/j.jpeds.2013.11.065 | pmc=3963265 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24412141  }} </ref>


4-hydroxyphenylpyruvate hydroxylase deficiency
*Hypothyroidism: [[Growth failure]] is an [[important]] feature of [[hypothyroidism]]. Due to [[hypothyroidism]], the [[bone]] [[age]] is delayed. However, it is a [[treatable]] and [[reversible]] cause of [[short stature]] as once it is identified and [[treated]], [[children]] achieve the [[normal]] [[growth]] [[potential]].<ref name="pmidPMID: 2445271">{{cite journal| author=Virmani A, Menon PS, Karmarkar MG, Kochupillai N, Seth V, Ghai OP | display-authors=etal| title=Evaluation of thyroid function in children with undiagnosed short stature in north India. | journal=Ann Trop Paediatr | year= 1987 | volume= 7 | issue= 3 | pages= 205-9 | pmid=PMID: 2445271 | doi=10.1080/02724936.1987.11748508 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2445271  }} </ref>
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
*Growth hormone deficiency: If growth hormone deficiency is [[congenital]], then [[postnatal]] [[growth failure]] along with delayed [[bone]] [[age]] is seen. The [[patient]] has very [[low]] [[serum]] [[concentrations]] of [[growth hormone]], [[IGF-1]], and [[IGF-binding protein-3]] (IGFBP-3. Additional findings are [[hypoglycemia]], prolonged [[jaundice]], and [[micropenis]] in [[boys]], especially if [[gonadotropins]] are deficient as well. In [[children]], whose [[height]] may still be within the [[normal]] range for [[age]], has less severe [[growth failure]]. [[Acquired]] or secondary [[growth hormone]] [[deficiency]] occurs in case of [[intracranial]] [[tumor]] (eg, [[craniopharyngioma]]), [[cranial]] [[irradiation]], and [[head]] [[trauma]].<ref name="pmidPMID: 31514194">{{cite journal| author=Collett-Solberg PF, Ambler G, Backeljauw PF, Bidlingmaier M, Biller BMK, Boguszewski MCS | display-authors=etal| title=Diagnosis, Genetics, and Therapy of Short Stature in Children: A Growth Hormone Research Society International Perspective. | journal=Horm Res Paediatr | year= 2019 | volume= 92 | issue= 1 | pages= 1-14 | pmid=PMID: 31514194 | doi=10.1159/000502231 | pmc=6979443 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=31514194  }} </ref>


3-Hydroxyisobutyric aciduria
===Psychosocial short stature===
3M syndrome
It is a [[growth disorder]] that is observed between the ages of 2 and 15, caused by extreme [[emotional]] deprivation or [[stress]] which causes [[decrease]] in [[growth hormone]] ([[GH]]) and [[somatomedin]] [[secretion]], resulting in very [[short stature]]. Patient's [[weight]] is inappropriate for the [[height]] with immature [[skeletal]] age. <ref name="pmidPMID: 1524559">{{cite journal| author=Blizzard RM, Bulatovic A| title=Psychosocial short stature: a syndrome with many variables. | journal=Baillieres Clin Endocrinol Metab | year= 1992 | volume= 6 | issue= 3 | pages= 687-712 | pmid=PMID: 1524559 | doi=10.1016/s0950-351x(05)80119-3 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=1524559  }} </ref>
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
==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.<ref name="pmidPMID: 30261514">{{cite journal| author=Derrick KM, Gomes WA, Gensure RC| title=Incidence and Outcomes of Pituitary Microadenomas in Children with Short Stature/Growth Hormone Deficiency. | journal=Horm Res Paediatr | year= 2018 | volume= 90 | issue= 3 | pages= 151-160 | pmid=PMID: 30261514 | doi=10.1159/000489456 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=30261514  }} </ref>


Aarskog syndrome
*[[Genetic disorders]]: [[Down syndrome]], [[Turner syndrome]], [[3M syndrome]], [[Noonan syndrome]], [[Prader-Willi syndrome]], [[Aarskog syndrome]], [[Silver-Russell syndrome]], etc.
Atkin-Flaitz-Patil syndrome
*[[Bone]] [[diseases]]: [[Dwarfism]], [[Achondroplasia]] (short-limbed [[dwarfism]]), [[diastrophic]] [[dysplasia]] (short-limbed [[dwarfism]]), [[spondylo-epiphyseal]] [[dysplasia]] (short-trunk dwarfism), [[rickets]], etc
Barth syndrome
*[[Chronic disorders]]: [[Cystic fibrosis]], [[Crohn disease]], [[juvenile idiopathic arthritis]] (JIA), [[anemia]], [[chronic renal insufficiency]], [[inflammatory bowel disorder]], [[chronic]] [[malnutrition]], etc
BRESHECK syndrome
*[[Psychological]] [[distress]] <ref name="pmidPMID: 32310491">{{cite journal| author=| title=StatPearls | journal= | year= 2020 | volume=  | issue=  | pages=  | pmid=PMID: 32310491 | doi= | pmc= | url= }} </ref>
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
==Epidemiology and Demographics==
In the United States, 2.5% of the population is short. <ref name="pmidPMID: 32310491">{{cite journal| author=| title=StatPearls | journal= | year= 2020 | volume=  | issue=  | pages=  | pmid=PMID: 32310491 | doi= | pmc= | url= }} </ref> 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%.<ref name="pmidPMID: 29285442">{{cite journal| author=Velayutham K, Selvan SSA, Jeyabalaji RV, Balaji S| title=Prevalence and Etiological Profile of Short Stature among School Children in a South Indian Population. | journal=Indian J Endocrinol Metab | year= 2017 | volume= 21 | issue= 6 | pages= 820-822 | pmid=PMID: 29285442 | doi=10.4103/ijem.IJEM_149_17 | pmc=5729667 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29285442  }} </ref>


MELAS
===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.


Nutritional conditions
===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.


Kwashiorkor
===Race===
Malabsorption syndrome
*[[Short stature]] is more [[prevalent]] among [[Hispanic]] [[children]] as compared to the other [[populations]].<ref name="pmidPMID: 21422085">{{cite journal| author=Grimberg A, Feemster KA, Pati S, Ramos M, Grundmeier R, Cucchiara AJ | display-authors=etal| title=Medically underserved girls receive less evaluation for short stature. | journal=Pediatrics | year= 2011 | volume= 127 | issue= 4 | pages= 696-702 | pmid=PMID: 21422085 | doi=10.1542/peds.2010-1563 | pmc=3065076 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21422085  }} </ref>
Marasmus


Autoimmune conditions
==Risk Factors==
*Common [[risk factors]] in the [[development]] of [[short stature]] are [[diet]], [[environment]], and [[genetics]].<ref name="pmidPMID: 32310491">{{cite journal| author=| title=StatPearls | journal= | year= 2020 | volume=  | issue=  | pages=  | pmid=PMID: 32310491 | doi= | pmc= | url= }} </ref>


Diabetes mellitus type 1
== Diagnosis ==
===Diagnostic Criteria===
*The diagnostic criteria of [[short stature]] is when the [[height]] is 2 or more standard deviations below the mean for age and [[gender]] within a population (below the 2.5th percentile).<ref name="pmidPMID: 8506669">{{cite journal| author=Musilová J, Kölbel F, Král J, Simper D, Michalová K| title=[Cardiovascular changes in Turner's syndrome]. | journal=Vnitr Lek | year= 1993 | volume= 39 | issue= 2 | pages= 198-202 | pmid=PMID: 8506669 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8506669  }} </ref>


Inflammatory conditions
=== Symptoms ===
* Symptoms of the short stature depend on the underlying cause.


Celiac disease
=== Physical Examination ===
* Short stature can be diagnosed by [[Anthropometric]] measurements including [[height]] [[vertex]], body [[weight]], [[trunk]] [[height]], and [[limb]] [[length]] of an individual. These are assessed in relation to [[age]], sex, and population.<ref name="pmidPMID: 8506669">{{cite journal| author=Musilová J, Kölbel F, Král J, Simper D, Michalová K| title=[Cardiovascular changes in Turner's syndrome]. | journal=Vnitr Lek | year= 1993 | volume= 39 | issue= 2 | pages= 198-202 | pmid=PMID: 8506669 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8506669  }} </ref>


Neoplastic conditions
* In [[achondroplasia]], enlarged [[head]] with [[frontal]] bossing, depressed [[nasal bridge]], mid-[[face]] [[hypoplasia]] and [[skull]].<ref name="pmidPMID: 8506669">{{cite journal| author=Musilová J, Kölbel F, Král J, Simper D, Michalová K| title=[Cardiovascular changes in Turner's syndrome]. | journal=Vnitr Lek | year= 1993 | volume= 39 | issue= 2 | pages= 198-202 | pmid=PMID: 8506669 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8506669  }} </ref>


Histiocytosis X
=== Laboratory Findings ===
The laboratory studies used to assess the major causes of short stature include,
* [[Measurement]] of [[serum]] [[levels]] of [[insulin-like growth factor-I]] ([[IGF-I]]), formerly named [[somatomedin C]], and [[IGF binding protein-3]] ([[IGFBP-3]]). [[Measurement]] of [[serum]] [[levels]] of [[growth hormone]].<ref name="pmidPMID: 11577173">{{cite journal| author=Laron Z| title=Insulin-like growth factor 1 (IGF-1): a growth hormone. | journal=Mol Pathol | year= 2001 | volume= 54 | issue= 5 | pages= 311-6 | pmid=PMID: 11577173 | doi=10.1136/mp.54.5.311 | pmc=1187088 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11577173  }} </ref>


Obstetric conditions
* [[Karyotype]] for the [[genetic]] [[causes]] of the [[short stature]].<ref name="pmidPMID: 31737054">{{cite journal| author=Ye CJ, Stilgenbauer L, Moy A, Liu G, Heng HH| title=What Is Karyotype Coding and Why Is Genomic Topology Important for Cancer and Evolution? | journal=Front Genet | year= 2019 | volume= 10 | issue=  | pages= 1082 | pmid=PMID: 31737054 | doi=10.3389/fgene.2019.01082 | pmc=6838208 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=31737054  }} </ref>


Intrauterine growth retardation
* Other tests include, 
Premature labour and/or delivery
** [[CBC]] for [[hematologic]] [[diseases]].<ref name="pmid32955036">{{cite journal| author=Bi H, Wang G, Li Z, Zhou L, Zhang M, Ye J | display-authors=etal| title=Erratum: Long Noncoding RNA (lncRNA) Maternally Expressed Gene 3 (MEG3) Participates in Chronic Obstructive Pulmonary Disease through Regulating Human Pulmonary Microvascular Endothelial Cell Apoptosis. | journal=Med Sci Monit | year= 2020 | volume= 26 | issue=  | pages= e927410 | pmid=32955036 | doi=10.12659/MSM.927410 | pmc=7518006 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=32955036  }} </ref>
** [[Serum]] total [[thyroxine]] (total T4) and [[thyrotropin]] (TSH) levels to test for [[hypothyroidism]].<ref name="pmidPMID: 30215224">{{cite journal| author=Soh SB, Aw TC| title=Laboratory Testing in Thyroid Conditions - Pitfalls and Clinical Utility. | journal=Ann Lab Med | year= 2019 | volume= 39 | issue= 1 | pages= 3-14 | pmid=PMID: 30215224 | doi=10.3343/alm.2019.39.1.3 | pmc=6143469 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=30215224  }} </ref>
** [[Antiendomysial]] [[immunoglobulin]] A (IgA) and [[immunoglobulin G]] ([[IgG]]), [[transglutaminase]] [[IgG]], and [[antigliadin]] [[IgG]] [[titers]] for [[gluten enteropathy]]. [[Erythrocyte sedimentation rate]] for [[inflammatory bowel disease]].<ref name="pmidPMID: 16474109">{{cite journal| author=Vermeire S, Van Assche G, Rutgeerts P| title=Laboratory markers in IBD: useful, magic, or unnecessary toys? | journal=Gut | year= 2006 | volume= 55 | issue= 3 | pages= 426-31 | pmid=PMID: 16474109 | doi=10.1136/gut.2005.069476 | pmc=1856093 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16474109  }} </ref>
** [[Serum]] [[transferrin]] and [[pre-albumin]] [[concentrations]] for [[malnutrition]].<ref name="pmidPMID: 27174435">{{cite journal| author=Bharadwaj S, Ginoya S, Tandon P, Gohel TD, Guirguis J, Vallabh H | display-authors=etal| title=Malnutrition: laboratory markers vs nutritional assessment. | journal=Gastroenterol Rep (Oxf) | year= 2016 | volume= 4 | issue= 4 | pages= 272-280 | pmid=PMID: 27174435 | doi=10.1093/gastro/gow013 | pmc=5193064 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27174435  }} </ref>
** [[Sweat]] [[chloride]] [[test]] for [[cystic fibrosis]]. <ref name="pmidPMID: 16648884">{{cite journal| author=Mishra A, Greaves R, Massie J| title=The relevance of sweat testing for the diagnosis of cystic fibrosis in the genomic era. | journal=Clin Biochem Rev | year= 2005 | volume= 26 | issue= 4 | pages= 135-53 | pmid=PMID: 16648884 | doi= | pmc=1320177 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16648884  }} </ref> <ref name="pmidPMID: 3331206">{{cite journal| author=Landon C, Rosenfeld RG| title=Short stature and pubertal delay in cystic fibrosis. | journal=Pediatrician | year= 1987 | volume= 14 | issue= 4 | pages= 253-60 | pmid=PMID: 3331206 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3331206  }} </ref>


Respiratory conditions
===Electrocardiogram===
* In [[Noonan syndrome]], which is one of the [[genetic]] cause of [[short stature]], [[electrocardiogram]] ([[ECG]]) shows [[left axis deviation]], [[abnormal]] R/S ratio over the left [[precordium]], and an [[abnormal]] [[Q wave]]. <ref name="pmidPMID: 18270737">{{cite journal| author=Raaijmakers R, Noordam C, Noonan JA, Croonen EA, van der Burgt CJ, Draaisma JM| title=Are ECG abnormalities in Noonan syndrome characteristic for the syndrome? | journal=Eur J Pediatr | year= 2008 | volume= 167 | issue= 12 | pages= 1363-7 | pmid=PMID: 18270737 | doi=10.1007/s00431-008-0670-9 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18270737  }} </ref>


Bronchial asthma
* In [[Turner's Syndrome]], [[ECG]] findings include [[ectopic]] [[supraventricular]] and [[ventricular]] activity. <ref name="pmidPMID: 8506669">{{cite journal| author=Musilová J, Kölbel F, Král J, Simper D, Michalová K| title=[Cardiovascular changes in Turner's syndrome]. | journal=Vnitr Lek | year= 1993 | volume= 39 | issue= 2 | pages= 198-202 | pmid=PMID: 8506669 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8506669  }} </ref>
Bronchiectasis


Trauma, mechanical and physical conditions
===X-ray===
* [[Xray]] [[anteroposterior]] view of [[left]] [[hand]] and [[wrist]] is done to assess the [[bone]] [[age]] in children with [[short stature]].
* [[Xray]] findings of longstanding untreated [[hypothyroidism]] include [[epiphyseal]] [[dysgenesis]]. The [[spine]] shows [[platyspondyly]] and [[thoraco-lumbar]] [[kyphosis]].<ref name="pmidPMID: 2763957">{{cite journal| author=Kao SC, Waziri MH, Smith WL, Sato Y, Yuh WT, Franken EA| title=MR imaging of the craniovertebral junction, cranium, and brain in children with achondroplasia. | journal=AJR Am J Roentgenol | year= 1989 | volume= 153 | issue= 3 | pages= 565-9 | pmid=PMID: 2763957 | doi=10.2214/ajr.153.3.565 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2763957  }} </ref>


Child abuse
=== Ultrasound===
Choledochal cyst
* [[Ultrasound]] helps in evaluation of [[thyroid]] [[pathologies]], such as [[thyroid]] [[dysgenesis]], [[ectopic]] [[thyroid]] [[gland]], [[goiter]] or [[thyroid]] [[mass]]. <ref name="pmidPMID: 2763957">{{cite journal| author=Kao SC, Waziri MH, Smith WL, Sato Y, Yuh WT, Franken EA| title=MR imaging of the craniovertebral junction, cranium, and brain in children with achondroplasia. | journal=AJR Am J Roentgenol | year= 1989 | volume= 153 | issue= 3 | pages= 565-9 | pmid=PMID: 2763957 | doi=10.2214/ajr.153.3.565 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2763957  }} </ref>
Sexual abuse


Infection and infective conditions
===CT scan===
There are no CT scan findings associated with [disease name].


Tonsillitis
OR
Urinary tract infection


Helminths and helminthic conditions
[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].


Ascariasis
OR


Bacteria and bacterial conditions
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].


Mycobacterium tuberculosis
===MRI===


Drug groups
* [[MRI]] is the [[modality]] of choice for the evaluation of [[pituitary-hypothalamic axis]] (PHA) in order to identify [[Congenital hypopituitarism]] or [[brain tumor]], which can cause isolated [[growth hormone]] [[deficiency]] (IGHD) or multiple [[pituitary]] [[hormone]] [[deficiencies]] (MPHDs) leading to [[growth retardation]].<ref name="pmidPMID: 23087851">{{cite journal| author=Chaudhary V, Bano S| title=Imaging in short stature. | journal=Indian J Endocrinol Metab | year= 2012 | volume= 16 | issue= 5 | pages= 692-7 | pmid=PMID: 23087851 | doi=10.4103/2230-8210.100641 | pmc=3475891 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23087851  }} </ref>


Cytotoxic therapeutic agents
* In [[achondroplasia]], [[MRI]] [[brain]] reveals small base of the [[skull]], narrowed [[foramen magnum]], [[syringomyelia]], [[myelomalacia]], [[hydrocephalus]], and [[lumbar]] [[spinal stenosis]].<ref name="pmidPMID: 2763957">{{cite journal| author=Kao SC, Waziri MH, Smith WL, Sato Y, Yuh WT, Franken EA| title=MR imaging of the craniovertebral junction, cranium, and brain in children with achondroplasia. | journal=AJR Am J Roentgenol | year= 1989 | volume= 153 | issue= 3 | pages= 565-9 | pmid=PMID: 2763957 | doi=10.2214/ajr.153.3.565 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2763957  }} </ref>


Drugs, hormones and mediators
=== 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].


Prednisolone
== Treatment ==
=== Medical Therapy ===
*The [[primary management]] of [[short stature]] should be to treat the underlying [[cause]].<ref name="pmidPMID: 32310491">{{cite journal| author=| title=StatPearls | journal= | year= 2020 | volume=  | issue=  | pages=  | pmid=PMID: 32310491 | doi= | pmc= | url= }} </ref>


[[Ciclesonide]]
*If the [[short stature]] is caused due to a [[hormonal]] [[deficiency]] it should be managed with [[hormonal]] [[treatment]].<ref name="pmidPMID: 32310491">{{cite journal| author=| title=StatPearls | journal= | year= 2020 | volume=  | issue=  | pages=  | pmid=PMID: 32310491 | doi= | pmc= | url= }} </ref>


==Epidemiology and Demographics==
*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. <ref name="pmidPMID: 28688585">{{cite journal| author=Lanes R, González Briceño LG| title=Alternatives in the Treatment of Short Stature. | journal=Adv Pediatr | year= 2017 | volume= 64 | issue= 1 | pages= 111-131 | pmid=PMID: 28688585 | doi=10.1016/j.yapd.2017.03.004 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28688585  }} </ref>
The American Association of Clinical Endocrinologists defines "short stature" as height more than 2 [[standard deviation]]s below the [[mean (statistics)|mean]] for age and gender, which corresponds to the shortest 2.3% of individuals.<ref name="urlFDA Approves Humatrope for Short Stature">{{cite web |url=http://www.fda.gov/bbs/topics/answers/2003/ans01242.html |title=FDA Approves Humatrope for Short Stature |publisher = [[U.S. Food and Drug Administration]] | date = 2003-07-25 |accessdate= 2009-01-13}} {{Dead link|date=October 2010|bot=H3llBot}}</ref>
 
* 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]].<ref name="pmidPMID: 32310491">{{cite journal| author=| title=StatPearls | journal= | year= 2020 | volume=  | issue=  | pages=  | pmid=PMID: 32310491 | doi= | pmc= | url= }} </ref>
 
=== 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]].<ref name="pmidPMID: 3182120">{{cite journal| author=Cattaneo R, Villa A, Catagni M, Tentori L| title=Limb lengthening in achondroplasia by Ilizarov's method. | journal=Int Orthop | year= 1988 | volume= 12 | issue= 3 | pages= 173-9 | pmid=PMID: 3182120 | doi=10.1007/BF00547160 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3182120  }} </ref> <ref name="pmidPMID: 15660273">{{cite journal| author=Ottaviani G, Randelli P, Catagni MA| title=Segmental cement extraction system (SEG-CES) and the Ilizarov method in limb salvage procedure after total knee cemented prosthesis removal in a former osteosarcoma patient. | journal=Knee Surg Sports Traumatol Arthrosc | year= 2005 | volume= 13 | issue= 7 | pages= 557-63 | pmid=PMID: 15660273 | doi=10.1007/s00167-004-0575-8 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15660273  }} </ref>
 
*The [[surgery]] is performed using [[Ilizarov method]] with [[circular]] [[external fixation]]. This is called [[cosmetic]] [[leg]] [[lengthening]] or [[symmetrical]] [[extended]] [[limb]] [[lengthening]]. <ref name="pmidPMID: 10634984">{{cite journal| author=Stathis SL, O'Callaghan MJ, Williams GM, Najman JM, Andersen MJ, Bor W| title=Behavioural and cognitive associations of short stature at 5 years. | journal=J Paediatr Child Health | year= 1999 | volume= 35 | issue= 6 | pages= 562-7 | pmid=PMID: 10634984 | doi=10.1046/j.1440-1754.1999.00427.x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10634984  }} </ref> <ref name="pmidPMID: 10636982">{{cite journal| author=Kranzler JH, Rosenbloom AL, Proctor B, Diamond FB, Watson M| title=Is short stature a handicap? A comparison of the psychosocial functioning of referred and nonreferred children with normal short stature and children with normal stature. | journal=J Pediatr | year= 2000 | volume= 136 | issue= 1 | pages= 96-102 | pmid=PMID: 10636982 | doi=10.1016/s0022-3476(00)90057-x | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=10636982  }} </ref>
 
=== Prevention ===
*There are no [[primary]] [[preventive]] measures available for [[short stature]].
 
*Once [[diagnosed]] it could be [[managed]], with either [[medical]] or [[surgical]] [[options]].


==References==
==References==
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[[Category:Signs and symptoms]]
[[Category:Signs and symptoms]]
[[Category:Physical examination]]
[[Category:Physical examination]]
 
[[Category:Primary care]]
{{WH}}
{{WikiDoc Sources}}

Latest revision as of 17:42, 30 November 2020

WikiDoc Resources for Short Stature

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

Synonyms and keywords:

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.” [1] [2]

Historical Perspective

  • In 1967 by Pierre Maroteaux was the first man to ever mention 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. [5]

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. [5]

Pathophysiology

Causes

Physiological causes of short stature

Familial short stature

Constitutional delay of growth and puberty

  • In addition children also have delayed pubertal maturation. This leads to a marked height discrepancy during the early teenage years compared with their peers but is followed by catch-up growth when they do enter puberty. The hallmark of CDGP is delayed skeletal age.[7]

Idiopathic short stature

Small for gestational age infants with catch-up growth

  • 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. [9]

Pathologic causes of short stature

Systemic disorders with secondary effects on growth

Malnutrition
  • Malnutrition can lead to short stature with a delayed pattern of growth. The hallmark is low weight-for-height.
  • Malnutrition can be due to inadequate food supply, or it may be due to an underlying condition which affects food intake or absorption or increases energy requirement of the body. [10] [11]
Glucocorticoid therapy
Gastrointestinal disease
Rheumatologic disease
Chronic kidney disease
Cancer
Pulmonary disease
Cardiac disease
  • The major causes include, anorexia and increased basal energy requirements. [20]
Immunologic disease
  • Growth failure is associated with immunologic deficiencies such as common variable immunodeficiency or severe combined immunodeficiency syndrome, and infections such as HIV.[21]
Metabolic diseases

Metabolic disorders can lead to growth failure in children and adolescents.

Genetic Causes

Several genetic disorders have prominent effects on growth.

Endocrine Causes

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 which causes decrease in growth hormone (GH) and somatomedin secretion, resulting in very short stature. Patient's weight is inappropriate for the height with immature skeletal age. [30]

Differential Diagnosis

Epidemiology and Demographics

In the United States, 2.5% of the population is short. [5] 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%.[32]

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

Risk Factors

Diagnosis

Diagnostic Criteria

  • The diagnostic criteria of short stature is when the height is 2 or more standard deviations below the mean for age and gender within a population (below the 2.5th percentile).[34]

Symptoms

  • Symptoms of the short stature depend on the underlying cause.

Physical Examination

Laboratory Findings

The laboratory studies used to assess the major causes of short stature include,

Electrocardiogram

X-ray

Ultrasound

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

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

Surgery

Prevention

References

  1. "StatPearls". 2020. PMID 32310491 Check |pmid= value (help).
  2. "StatPearls". 2020. PMID 31855368 PMID: 31855368 Check |pmid= value (help).
  3. Pauli RM (2019). "Achondroplasia: a comprehensive clinical review". Orphanet J Rare Dis. 14 (1): 1. doi:10.1186/s13023-018-0972-6. PMC 6318916. PMID 30606190 PMID: 30606190 Check |pmid= value (help).
  4. Shiang R, Thompson LM, Zhu YZ, Church DM, Fielder TJ, Bocian M; et al. (1994). "Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia". Cell. 78 (2): 335–42. doi:10.1016/0092-8674(94)90302-6. PMID 7913883 PMID: 7913883 Check |pmid= value (help).
  5. 5.00 5.01 5.02 5.03 5.04 5.05 5.06 5.07 5.08 5.09 5.10 "StatPearls". 2020. PMID 32310491 PMID: 32310491 Check |pmid= value (help).
  6. 6.0 6.1 6.2 "StatPearls". 2020. PMID 32644549 PMID: 32644549 Check |pmid= value (help).
  7. 7.0 7.1 7.2 7.3 Soliman AT, De Sanctis V (2012). "An approach to constitutional delay of growth and puberty". Indian J Endocrinol Metab. 16 (5): 698–705. doi:10.4103/2230-8210.100650. PMC 3475892. PMID 23087852 PMID: 23087852 Check |pmid= value (help).
  8. 8.0 8.1 Vlaski J, Katanić D, Privrodski JJ, Kavecan I, Vorguicn I, Obrenović M (2013). "[Idiopathic short stature]". Srp Arh Celok Lek. 141 (3–4): 256–61. doi:10.2298/sarh1304256v. PMID 23745354 PMID: 23745354 Check |pmid= value (help).
  9. 9.0 9.1 Fewtrell MS, Morley R, Abbott RA, Singhal A, Stephenson T, MacFadyen UM; et al. (2001). "Catch-up growth in small-for-gestational-age term infants: a randomized trial". Am J Clin Nutr. 74 (4): 516–23. doi:10.1093/ajcn/74.4.516. PMID 11566651 PMID: 11566651 Check |pmid= value (help).
  10. Checkley W, Epstein LD, Gilman RH, Cabrera L, Black RE (2003). "Effects of acute diarrhea on linear growth in Peruvian children". Am J Epidemiol. 157 (2): 166–75. doi:10.1093/aje/kwf179. PMID 12522024 PMID: 12522024 Check |pmid= value (help).
  11. 11.0 11.1 11.2 11.3 Waqar Rabbani M, Imran Khan W, Bilal Afzal A, Rabbani W (2013). "Causes of short stature identified in children presenting at a tertiary care hospital in Multan Pakistan". Pak J Med Sci. 29 (1): 53–7. doi:10.12669/pjms.291.2688. PMC 3809182. PMID 24353507 PMID: 24353507 Check |pmid= value (help).
  12. Allen DB (1996). "Growth suppression by glucocorticoid therapy". Endocrinol Metab Clin North Am. 25 (3): 699–717. doi:10.1016/s0889-8529(05)70348-0. PMID 8879994 PMID 8879994 Check |pmid= value (help).
  13. de Zegher F, Reynaert N, De Somer L, Wouters C, Roelants M (2018). "Growth Failure in Children with Systemic Juvenile Idiopathic Arthritis and Prolonged Inflammation despite Treatment with Biologicals: Late Normalization of Height by Combined Hormonal Therapies". Horm Res Paediatr. 90 (5): 337–343. doi:10.1159/000489778. PMID 29940586 PMID 29940586 Check |pmid= value (help).
  14. Bechtold S, Roth J (2009). "Natural history of growth and body composition in juvenile idiopathic arthritis". Horm Res. 72 Suppl 1: 13–9. doi:10.1159/000229758. PMID 19940490 PMID 19940490 Check |pmid= value (help).
  15. 15.0 15.1 15.2 Oliveira JC, Siviero-Miachon AA, Spinola-Castro AM, Belangero VM, Guerra-Junior G (2008). "[Short stature in chronic kidney disease: physiopathology and treatment with growth hormone]". Arq Bras Endocrinol Metabol. 52 (5): 783–91. doi:10.1590/s0004-27302008000500010. PMID 18797585 PMID: 18797585 Check |pmid= value (help).
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