{"orpha":3005,"name":"Pyle disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Metaphyseal dysplasia, Pyle type","SFRP4-related Pyle disease"],"definition":"A rare bone dysplasia characterized by long bones with wide and expanded metaphyses, thin cortical bone and bone fragility. The metaphyseal widening and undermodeling extends well into the diaphysis and causes in the distal femur the typical ''Erlenmeyer flask'' or ''paddle'' appearance. Bone undermodeling is also seen in the tubular bones of the hands where there is lack of diaphyseal constriction. Common clinical features include genua valga, big clavicles and dental anomalies. Mild hyperostosis of the skull and mild platyspondyly can also be observed on radiographs.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3005/","orphanet_url":"https://www.orpha.net/en/disease/detail/3005","names":{"fr":{"name":"Maladie de Pyle","synonyms":["Dysplasie métaphysaire de Pyle"],"definition":"Dysplasie osseuse rare caractérisée par un élargissement des métaphyses des os longs, une corticale fine et une fragilité osseuse. L'élargissement métaphysaire et un modelage réduit touchant les diaphyses confèrent à la partie distale du fémur une apparence en «&nbsp;flacon Erlenmeyer&nbsp;» ou d'une «&nbsp;pagaie&nbsp;». Le modelage réduit touche également les os tubulaires des mains mais en absence de rétrécissement diaphysaire. Les caractéristiques cliniques courantes sont un genu valgum, un élargissement des clavicules et des anomalies dentaires. Une légère hyperostose du crâne et une légère platyspondylie peuvent également être observées sur les radiographies."},"de":{"name":"Pyle-Krankheit","synonyms":["Metaphysäre Dysplasie Typ Pyle","Pyle-Syndrom","SFRP4-assoziierte Pyle-Krankheit"],"definition":"Eine seltene Knochendysplasie, die gekennzeichnet ist durch lange Knochen mit breiten und erweiterten Metaphysen, dünne Kortikalis und Knochenbrüchigkeit. Die metaphysäre Verbreiterung und Auftreibung reicht weit in die Diaphyse hinein und verursacht im distalen Oberschenkelknochen das typische ,,Erlenmeyerkolben''- oder ,,Paddel''-Erscheinungsbild. Eine Auftreibung des Knochens ist auch an den Röhrenknochen der Hände zu beobachten, wo eine diaphysäre Verengung fehlt. Häufige klinische Merkmale sind Genua valga, große Schlüsselbeine und Zahnanomalien. Eine leichte Hyperostose des Schädels und eine leichte Platyspondylie können ebenfalls auf Röntgenbildern beobachtet werden."},"es":{"name":"Enfermedad de Pyle","synonyms":["Displasia metafisaria tipo Pyle","Enfermedad de Pyle asociada a SFRP4"],"definition":"Es una displasia ósea poco frecuente caracterizada por huesos largos con metáfisis anchas y expandidas, adelgazamiento del hueso cortical y fragilidad ósea. El ensanchamiento y el modelado metafisario deficiente se extienden hasta la diáfisis y dan lugar a la morfología característica en ''matraz de Erlenmeyer'' o en \"pala\" del fémur distal. El modelado óseo deficiente es patente también en los huesos tubulares de las manos, donde hay ausencia de constricción diafisaria. Las características clínicas comunes incluyen genu valgo, ensanchamiento de las clavículas y anomalías dentales. En las radiografías también se pueden observar hiperostosis discreta del cráneo y platispondilia leve."},"it":{"name":"Malattia di Pyle","synonyms":["Displasia metafisaria tipo Pyle","Malattia di Pyle correlata a SFRP4"]},"nl":{"name":"Ziekte van Pyle","synonyms":["Metafysaire dysplasie, Pyle-type","SFRP4-gerelateerde ziekte van Pyle"],"definition":"Een zeldzame botdysplasie, gekenmerkt door pijpbeenderen met brede en uitgezette metafysen, dunne botcortex en botfragiliteit. De metafysaire verbreding en ondermodellering breiden uit tot in de diafyse en veroorzaken in de distale femur de typische vorm van een erlenmeyer of peddel. Ondermodellering van bot wordt ook waargenomen in pijpbeenderen van de handen waar er een gebrek is aan diafysaire constrictie. Gangbare klinische kenmerken zijn onder meer genua valga, grote sleutelbeenderen en gebitsanomalieën. Milde hyperostose van schedel en milde platyspondylie kunnen ook waargenomen worden bij radiografie."},"pt":{"name":"Doença Pyle","synonyms":["Displasia metafisária, tipo Pyle","Doença Pyle SFRP4-relacionada"],"definition":"Displasia óssea rara caracterizada por ossos longos com metáfises largas e expandidas, osso cortical fino e fragilidade óssea. O alargamento e a submodelagem metafisários se estendem bem para dentro da diáfise e causam no fémur distal a aparência típica de ''frasco Erlenmeyer'' ou ''pá''. A submodelagem óssea também é vista nos ossos tubulares das mãos, onde há falta de constrição diafisária. As características clínicas comuns incluem genua valga, clavículas grandes e anomalias dentárias. Hiperostose leve do crânio e platispondilia leve também podem ser observadas em radiografias."},"pl":{"name":"Choroba Pyle'a","synonyms":["Dysplazja przynasadowa, typu Pyle'a"]},"cs":{"name":"Pyleova nemoc","synonyms":["Metafyzární dysplázie, Pyleův typ"]},"uk":{"name":"Хвороба Пайла","synonyms":["Метафізарна дисплазія, тип Pyle","SFRP4-асоційована хвороба кісткової тканини"],"definition":"A rare bone dysplasia characterized by long bones with wide and expanded metaphyses, thin cortical bone and bone fragility. The metaphyseal widening and undermodeling extends well into the diaphysis and causes in the distal femur the typical ''Erlenmeyer flask'' or ''paddle'' appearance. Bone undermodeling is also seen in the tubular bones of the hands where there is lack of diaphyseal constriction. Common clinical features include genua valga, big clavicles and dental anomalies. Mild hyperostosis of the skull and mild platyspondyly can also be observed on radiographs."},"zh":{"name":"Pyle病","synonyms":["干骺端发育不良，Pyle型"]},"tr":{"name":"Pyle hastalığı","synonyms":["Metafizyal displazi, Pyle tipi"]}},"xrefs":[{"source":"OMIM","code":"265900","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.5","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LD24.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"651364947"},{"source":"MONDO","code":"0009943","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536252","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265294","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4612","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10066147","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":[{"symbol":"SFRP4","name":"secreted frizzled related protein 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"27355534[PMID]","hgnc":"10778","ensembl":"ENSG00000106483","omim":"606570","loci":["7p14.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-04-16","source":"27245543[PMID]_27920870[PMID]_29463445[PMID]_36138002[PMID]","terms":[{"hpo":"HP:0004975","label":"Erlenmeyer flask deformity of the femurs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005464","label":"Craniofacial osteosclerosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000689","label":"Dental malocclusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003051","label":"Enlarged metaphyses","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002659","label":"Increased susceptibility to fractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006599","label":"Medial widening of clavicles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003418","label":"Back pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000696","label":"Delayed eruption of permanent teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010539","label":"Thin calvarium","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002645","label":"Wormian bones","frequency":"Occasional (29-5%)","criteria":null}]}}