{"orpha":314795,"name":"SHOX-related short stature","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age, but may develop later in life or never.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-314795/","orphanet_url":"https://www.orpha.net/en/disease/detail/314795","names":{"fr":{"name":"Petite taille associée à SHOX","definition":"La petite taille associée à SHOX est une dysplasie osseuse primaire caractérisée par une taille inférieure à deux écarts-type par rapport à la taille moyenne pour un âge, un genre et une population donnés, en l'absence d'anomalie squelettique et d'autres maladies évidentes, et dans le cadre d'un développement normal. Les patients présentent un âge osseux normal avec des membres normaux, un raccourcissement des extrémités (les ratios extrémités/tronc et taille assise/taille debout sont réduits de manière significative), des taux normaux de hGH, un karyotype normal et des signes radiologiques de type dyschondrostéose de Leri-Weill (triangularisation des épiphyses radiales distales, pyramidalisation des rangées carpiennes distales, et une clarté des radius distaux au niveau ulnaire). Le jeune patient ne présente pas de disproportion mésomélique ou de déformation de Madelung, mais celles-ci peuvent se développer plus tardivement ou ne jamais se développer."},"de":{"name":"Kleinwuchs, Shox-bedingter","definition":"SHOX-bedingter Kleinwuchs ist eine primäre Knochendysplasie, die durch eine Körpergröße gekennzeichnet ist, die 2 Standardabweichungen unter der entsprechenden mittleren Körpergröße für ein bestimmtes Alter, Geschlecht und eine bestimmte Bevölkerungsgruppe liegt, in Abwesenheit von offensichtlichen Skelettanomalien und anderen Krankheiten und mit normalen Entwicklungsmeilensteinen. Die Patienten weisen ein normales Knochenalter mit normalen Gliedmaßen, Verkürzung der Extremitäten (signifikant niedrigeres Verhältnis von Extremitäten zu Rumpf und Sitzhöhe zu Körpergröße), normale hGH-Werte, einen normalen Karyotyp und Leri-Weill-Dyschondrosteose-ähnliche radiologische Zeichen auf (z. B. Triangularisierung der distalen radialen Epiphysen, Pyramidalisierung der distalen Handwurzelreihe und Luzenz des distalen Radius auf der ulnaren Seite). Mesomelische Disproportionen und Madelung-Deformität sind im jungen Alter nicht offensichtlich, können sich aber später im Leben oder nie entwickeln."},"es":{"name":"Talla baja asociada al gen SHOX","definition":"La talla baja asociada a SHOX es una displasia ósea primaria caracterizada por una estatura que es 2 desviaciones estándar inferior a la estatura media correspondiente para un grupo de edad, sexo y población, en ausencia de anomalías esqueléticas evidentes y de otras enfermedades y con hitos del desarrollo normal. Los afectados presentan una edad ósea normal con miembros normales, acortamiento de las extremidades (la razón extremidades/tronco y talla sentada/talla de pie significativamente menores), valores normales de hGH, cariotipo normal, y signos radiológicos tipo discondrosteosis de Leri-Weill (p.ej. triangularización de la epífisis distal radial, piramidalización de la fila carpiana distal y lucencia del radio distal en el lado cubital). Las desproporciones mesomélicas y la deformidad de Madelung no resultan evidentes a una corta edad, pero pueden desarrollarse más tarde o nunca."},"it":{"name":"Bassa statura SHOX-correlata","definition":"La bassa statura correlata alle mutazioni di SHOX è una displasia scheletrica primitiva caratterizzata da un'altezza inferiore di due deviazioni standard rispetto all'altezza media riferita a una specifica età, al sesso e al gruppo etnico, in assenza di evidenti anomalie scheletriche o altre malattie e in presenza di normali tappe dello sviluppo. I pazienti presentano età ossea e arti normali, accorciamento delle estremità (rapporto significativamente più basso estremità-tronco e statura-statura da seduto), valori di hGH normali, cariotipo normale e segni radiologici che ricordano la discondrosteosi di Leri-Weill (epifisi radiali distali di forma triangolare, porzione carpale distale a forma piramidale e radio distale traslucente sul lato ulnare). Le sproporzioni mesomeliche e la deformità di Madelung non sono evidenti nei pazienti giovani, ma possono svilupparsi in seguito oppure essere del tutto assenti."},"nl":{"name":"Shox-gerelateerde kleine gestalte","definition":"SHOX-gerelateerde kleine gestalte is een primaire botdysplasie en wordt gekarakteriseerd door een lengte die 2 standaarddeviaties lager ligt dan de overeenkomstige gemiddelde lengte voor een gegeven leeftijd, geslacht en populatie, zonder zichtbare skeletale anomalieën en andere aandoeningen, en met normale mijlpalen in de ontwikkeling. Patiënten vertonen een normale botleeftijd met normale ledematen, inkorting van de extremiteiten (significant lagere extremiteiten/romp- en lengte in zitpositie/lengte-ratio's), normale hGH-waarden, normaal karyotype, en radiologische kenmerken gelijkaardig aan die van dyschondrosteose van Léri-Weill (e.g. triangularisatie van de distale radiale epifysen, piramidalisatie van de distale carpale rij, en luminescentie van de distale radius aan de ulnaire zijde). Mesomelische wanverhoudingen en misvorming van Madelung zijn niet zichtbaar op jonge leeftijd, maar kunnen later ontwikkelen, of nooit."},"pt":{"name":"Baixa estatura SHOX-relacionada"},"pl":{"name":"Niski wzrost związany z SHOX"},"cs":{"name":"Malý vzrůst způsobený mutacemi v SHOX genu"},"uk":{"name":"Низькорослість, повязана з SHOX","definition":"SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age, but may develop later in life or never."},"zh":{"name":"SHOX基因相关身材矮小","definition":"SHOX相关的身材矮小是一种原发性骨发育不良，其特征是身高低于特定年龄、性别和人群的相对应平均身高2个标准差，没有明显的骨骼异常和其它疾病，发育里程碑正常。患者骨龄正常，肢体缩短（肢干比及坐高比显著降低），hGH值正常，核型正常，Leri-Weill软骨发育不良样放射学征象（如桡骨远端骨骺三角化，腕远端行锥体化，尺侧桡骨远端透光度增强）。肢体中部比例失调和马德隆（Madelung）畸形在年轻时并不明显，但随年龄增加可能进展，也可能永不出现。"},"tr":{"name":"SHOX -ilişkili kısa boy"}},"xrefs":[{"source":"OMIM","code":"300582","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.A","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010367","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706613","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93438,"name":"Mesomelic and rhizo-mesomelic dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"SHOX","name":"SHOX homeobox","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26698168[PMID]","hgnc":"10853","ensembl":"ENSG00000185960","omim":"312865","loci":["Xp22.33 and Yp11.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2015-12-30","source":"8558868[PMID]_1640423[PMID]_22791839[PMID]_2602357[PMID]_20301394[PMID]_17182655[PMID]_14557470[PMID]_9140395[PMID]","terms":[{"hpo":"HP:0002967","label":"Cubitus valgus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005974","label":"Episodic ketoacidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009821","label":"Forearm undergrowth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009816","label":"Lower limb undergrowth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003067","label":"Madelung deformity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003712","label":"Skeletal muscle hypertrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002982","label":"Tibial bowing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005856","label":"Ulnar radial head dislocation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Frequent (79-30%)","criteria":null}]}}