{"orpha":2831,"name":"Rhizomelic dysplasia, Patterson-Lowry type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachymetacarpia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2831/","orphanet_url":"https://www.orpha.net/en/disease/detail/2831","names":{"fr":{"name":"Dysplasie rhizomélique de Patterson-Lowry","definition":"Une dysplasie osseuse primaire rare caractérisée par une petite taille, un raccourcissement rhizomélique sévère des membres supérieurs, associé à des malformations spécifiques de l'humérus (incluant un élargissement et un aplatissement prononcés des métaphyses proximales, un aplatissement médian des épiphyses proximales, et une incurvation latérale avec un épaississement cortical médian des diaphyses proximales), une coxa vara prononcée avec une dysplasie des têtes fémorales et une brachymétacarpie."},"de":{"name":"Dysplasie, rhizomele, Typ Patterson-Lowry","definition":"Eine seltene primäre Knochendysplasie, die durch Kleinwuchs, schwere rhizomele Verkürzung der oberen Gliedmaßen in Verbindung mit spezifischen Fehlbildungen des Humerus (einschließlich ausgeprägter Verbreiterung und Abflachung der proximalen Metaphysen, medialer Abflachung der proximalen Epiphysen und lateraler Verkrümmung mit medialer kortikaler Verdickung der proximalen Diaphysen), ausgeprägte Coxa vara mit dysplastischen Femurköpfen und verkürzten Mittelhandknochen."},"es":{"name":"Displasia rizomélica de Patterson-Lowry","definition":"Displasia rizomélica de Patterson-Lowry es una displasia ósea primaria poco frecuente caracterizada por talla baja, acortamiento rizomélico grave de las extremidades superiores asociada con malformaciones específicas de los húmeros (que incluyen un marcado ensanchamiento y aplanamiento de las metáfisis proximales, aplanamiento medial de las epífisis proximales y arqueamiento lateral con engrosamiento cortical medial de las diáfisis proximales), marcada coxa vara con cabezas femorales displásicas y braquimetacarpia."},"it":{"name":"Displasia rizomelica tipo Patterson-Lowry","synonyms":["Displasia rizomelica, tipo Patterson-Lowry"],"definition":"La displasia rizomelica tipo Patterson-Lowry è una displasia scheletrica primitiva rara, caratterizzata da bassa statura, grave accorciamento rizomelico degli arti superiori associato a malformazioni caratteristiche dell'omero (marcato allargamento e appiattimento delle metafisi prossimali, appiattimento della porzione mediana delle epifisi prossimali e incurvamento laterale con ispessimento corticale mediano delle diafisi prossimali), coxa vara marcata con displasia della testa del femore e brachimetacarpia."},"nl":{"name":"Rhizomele dysplasie, Patterson-Lowry-type","definition":"Rhizomele dysplasie, Patterson-Lowry-type is een zeldzame primaire botdysplasie die gekarakteriseerd wordt door een kleine gestalte, ernstige rhizomele verkorting van de bovenste ledematen, geassocieerd met specifieke malformaties van de opperarmbeenderen (waaronder duidelijke verbreding en afvlakking van proximale metafysen, mediale afvlakking van de proximale epifysen, en laterale buiging met mediale corticale verdikking van de proximale diafysen), duidelijke coxa vara met dysplastische femorale koppen en brachimetacarpalie."},"pt":{"name":"Displasia rizomélica, tipo Patterson-Lowry"},"pl":{"name":"Dysplazja rizomeliczna typu Pattersona-Lowry'ego"},"cs":{"name":"Rhizomelická dysplázie, Pattersonův-Lowryho typ","synonyms":["Rhizomelická dysplázie, Patterson-Lowryho typ"]},"uk":{"name":"Ризомелічна дисплазія, тип Паттерсона-Лоурі","definition":"Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachimetacarpalia."},"zh":{"name":"肢根型发育不良，Patterson-Lowry型"},"tr":{"name":"Rizomelik displazi, Patterson-Lowry tipi"}},"xrefs":[{"source":"OMIM","code":"601438","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.A","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1681747199"},{"source":"MONDO","code":"0011079","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537609","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1832359","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4703","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":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"15103724[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_15103724[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002812","label":"Coxa vara","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005687","label":"Deformed humeral heads","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004097","label":"Deviation of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100729","label":"Large face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008905","label":"Rhizomelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005792","label":"Short humerus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010049","label":"Short metacarpal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Very frequent (99-80%)","criteria":null}]}}