{"orpha":2635,"name":"Metatropic dysplasia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Metatropic dwarfism"],"definition":"Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2635/","orphanet_url":"https://www.orpha.net/en/disease/detail/2635","names":{"fr":{"name":"Dysplasie métatropique","synonyms":["Nanisme métatropique"],"definition":"La dysplasie métatropique est une dysplasie spondylo-épi-métaphysaire rare caractérisée par un tronc long et des membres courts dans la petite enfance, suivis par une cyphoscoliose sévère et progressive, conduisant à une inversion des proportions au cours de l'enfance (tronc court et membres longs) et à une petite taille finale à l'âge adulte."},"de":{"name":"Metatrope Dysplasie","synonyms":["Kleinwuchs, metatroper"],"definition":"Die Metatrope Dysplasie (MTD), eine seltene spondylo-epimetaphysäre Dysplasie, ist im Kleinkindalter gekennzeichnet durch langen Stamm mit kurzen Gliedmaßen, gefolgt von schwerer progredienter Kyphoskoliose. Im Kindesalter kehren sich deshalb die Proportionen um (kurzer Stamm mit langen Gliedmaßen). Erwachsene Patienten sind kleinwüchsig."},"es":{"name":"Displasia metatrópica","synonyms":["Enanismo metatrópico"],"definition":"La displasia metatrópica (MTD) es una displasia espondiloepimetafisaria caracterizada por un tronco largo y extremidades cortas en la infancia, seguido de una cifoescoliosis progresiva y grave que produce una reversión en las proporciones corporales durante la niñez (se pasa a tronco corto y extremidades largas) y estatura baja en la edad adulta."},"it":{"name":"Displasia metatropica","synonyms":["Nanismo metatropico"],"definition":"La displasia metatropica (MTD) è una displasia spondiloepimetafisaria rara caratterizzata da torace lungo e arti corti nel periodo neonatale, successiva cifoscoliosi grave e progressiva, che esita in un'inversione delle proporzioni nell'infanzia (torace corto e arti lunghi) e statura finale bassa nell'età adulta."},"nl":{"name":"Metatropische dysplasie","synonyms":["Metatropische dwerggroei"],"definition":"Metatropische dysplasie (MTD) is een zeldzame spondylo-epimetafysaire dysplasie gekenmerkt door een lange romp en korte ledematen bij de zuigeling, gevolgd door een ernstige en progressieve kyfoscoliose die een omkering in de verhoudingen (korte romp en lange ledematen) veroorzaakt tijdens de kindertijd en een finale kleine gestalte op volwassen leeftijd."},"pt":{"name":"Displasia metatrópica","synonyms":["Nanismo metatrópico"]},"pl":{"name":"Dysplazja zmienna typu 1","synonyms":["Karłowatość metatropiczna"],"definition":"Dysplazja zmienna typu 1 jest rzadką spondyloepimetafyzealną dysplazją charakteryzującą się długim tułowiem i krótkimi kończynami w okresie niemowlęcym, po czym rozwija się znaczna i postępująca kifoskolioza, powodując odwrócenie proporcji ciała w dzieciństwie (skrócenie tułowia i relatywne wydłużenie kończyn) i końcowy niski wzrost w wieku dorosłym."},"cs":{"name":"Metatropická dysplázie","synonyms":["Metatropické trpaslictví"]},"uk":{"name":"Метатропна дисплазія","synonyms":["Метатропна карликовість"],"definition":"Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood."},"zh":{"name":"变型骨发育不良","synonyms":["间相性侏儒"]},"tr":{"name":"Metatropik displazi","synonyms":["Metatropik cücelik"]}},"xrefs":[{"source":"OMIM","code":"156530","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q77.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1195885063"},{"source":"MONDO","code":"0007986","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537356","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265281","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3571","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10082970","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":93427,"name":"OBSOLETE: Metatropic dysplasias","status":"inactive"}],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":253,"name":"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","classifications":[147,156,199]},{"orpha":364820,"name":"TRPV4-related bone disorder","classifications":[156]}],"children":[],"genes":[{"symbol":"TRPV4","name":"transient receptor potential cation channel subfamily V member 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22791502[PMID]","hgnc":"18083","ensembl":"ENSG00000111199","omim":"605427","loci":["12q24.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":81.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24223250[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003103","label":"Abnormal cortical bone morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003336","label":"Abnormal enchondral ossification","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005108","label":"Abnormal intervertebral disk morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002826","label":"Halberd-shaped pelvis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008434","label":"Hypoplastic cervical vertebrae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100818","label":"Long thorax","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000774","label":"Narrow chest","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100670","label":"Rough bone trabeculation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006703","label":"Aplasia/Hypoplasia of the lungs","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Occasional (29-5%)","criteria":null}]}}