Short Stature

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

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Articles on Short Stature in N Eng J Med, Lancet, BMJ


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Experimental / Informatics

List of terms related to Short Stature

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


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.


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.[1]

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


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


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


Bacteria and bacterial conditions

Mycobacterium tuberculosis

Drug groups

Cytotoxic therapeutic agents

Drugs, hormones and mediators



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.[2]


  1. "FDA Approves Humatrope for Short Stature". U.S. Food and Drug Administration. 2003-07-25. Retrieved 2009-01-13.[dead link]

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