{"orpha":85188,"name":"Metaphyseal dysplasia, Braun-Tinschert type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Metaphyseal dysplasia, Braun-Tinschert type is characterised by metaphyseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask'' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85188/","orphanet_url":"https://www.orpha.net/en/disease/detail/85188","names":{"fr":{"name":"Dysplasie métaphysaire type Braun-Tinschert","definition":"La dysplasie métaphysaire de type Braun-Tinschert est caractérisée par une malformation métaphysaire avec élargissement des os longs, par un fémur en forme de flacon « Erlenmeyer », par une expansion et une incurvation des radius avec une déformation en varus sévère, et par des exostoses plates des os longs au niveau des jonctions métaphyses-diaphyses."},"de":{"name":"Dysplasie, metaphysäre, Typ Braun-Tinschert","definition":"Die Metaphysäre Dysplasie Typ Braun-Tinschert ist gekennzeichnet durch verminderte Modellierung der Metaphysen mit Verbreiterung der langen Knochen, Erlenmeyer-Kolben-Form des Femurs, Ausweitung und Verbiegung des Radius mit schwerer Varus-Deformität und durch flache Exostosen der langen Knochen am Übergang von der Metaphyse zur Diaphyse."},"es":{"name":"Displasia metafisaria tipo Braun-Tinschert","definition":"La displasia metafisaria tipo Braun-Tinschert está caracterizada por submodelación metafisaria con ensanchamiento de los huesos largos y fémures con apariencia de 'matraz de Erlenmeyer', expansión e incurvación de los radios con deformidad en varo grave y exostosis plana de los huesos largos en las uniones metadiafisarias."},"it":{"name":"Displasia metafisaria, tipo Braun-Tinschert"},"nl":{"name":"Metafysaire dysplasie, Braun-Tinschert-type","definition":"Metafysaire dysplasie, Braun-Tinschert-type wordt gekenmerkt door ondermaatse metafysaire modellering met verbreding van pijpbeenderen en Erlenmeyer-vormige femora, expansie en kromstand van radii met ernstige varus-deformiteit, en platte exostosen van pijpbeenderen ter hoogte van overgang tussen metafyse en diafyse."},"pt":{"name":"Displasia metafisária, tipo Braun-Tinschert"},"pl":{"name":"Dysplazja przynasadowa, typ Brauna i Tinscherta"},"cs":{"name":"Metafyzární dysplázie, Braunův-Tinschertův typ","synonyms":["Metafyzární dysplázie, Braun-Tinschertův typ"]},"uk":{"name":"Метафізарна дисплазія, тип Брауна-Тіншерта","definition":"Metaphyseal dysplasia, Braun-Tinschert type is characterised by metapyhseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask'' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions."},"zh":{"name":"干骺端发育不全症，Braun-Tinschert型"},"tr":{"name":"Metafizer displazi, Braun-Tinschert tipi"}},"xrefs":[{"source":"OMIM","code":"605946","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"523885087"},{"source":"MONDO","code":"0011620","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565271","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1853825","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93444,"name":"Primary bone dysplasia with increased bone density","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"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":"2021-10-06","source":"11343343[PMID]_16691581[PMID]","terms":[{"hpo":"HP:0010540","label":"Advanced pneumatization of cranial sinuses","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010498","label":"Bipartite patella","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008804","label":"Broad femoral head","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006429","label":"Broad femoral neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005622","label":"Broad long bones","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004026","label":"Broad radial metaphysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006413","label":"Broad tibial metaphyses","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003871","label":"Deformed humerus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010639","label":"Elevated alkaline phosphatase of bone origin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003986","label":"Exostoses of the radius","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003985","label":"Exostoses of the ulna","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010502","label":"Fibular bowing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002834","label":"Flared femoral metaphysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003874","label":"Humerus varus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003022","label":"Hypoplasia of the ulna","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011001","label":"Increased bone mineral density","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032208","label":"Increased urinary type 1 collagen N-terminal telopeptide level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002986","label":"Radial bowing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100670","label":"Rough bone trabeculation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100916","label":"Sclerosis of middle finger phalanx","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100917","label":"Sclerosis of proximal finger phalanx","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002753","label":"Thin bony cortex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002982","label":"Tibial bowing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003031","label":"Ulnar bowing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003856","label":"Upper limb metaphyseal widening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006387","label":"Wide distal femoral metaphysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008783","label":"Wide proximal femoral metaphysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006323","label":"Premature loss of primary teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null}]}}