{"orpha":2634,"name":"Mesomelic dwarfism, Reinhardt-Pfeiffer type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Reinhardt-Pfeiffer mesomelic dysplasia","Reinhardt-Pfeiffer syndrome"],"definition":"A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2634/","orphanet_url":"https://www.orpha.net/en/disease/detail/2634","names":{"fr":{"name":"Nanisme mésomélique type Reinhardt-Pfeiffer","synonyms":["Dysplasie mésomélique de Reinhardt-Pfeiffer","Syndrome de Reinhardt-Pfeiffer"],"definition":"Le nanisme mésomélique type Reinhardt-Pfeiffer est caractérisé par une petite taille disproportionnée dès la naissance, avec une dysplasie du cubitus et du péroné."},"de":{"name":"Kleinwuchs, mesomeler, Typ Reinhardt-Pfeiffer","synonyms":["Mesomele Dysplasie Typ Reinhardt-Pfeiffer","Reinhardt-Pfeiffer-Syndrom"],"definition":"Der Typ Reinhardt-Pfeiffer der Mesomelen Dysplasie ist gekennzeichnet durch angeborenen dysproportionierten Kleinwuchs und dysplastische Ulna und Fibula."},"es":{"name":"Displasia mesomélica tipo Reinhardt-Pfeiffer","synonyms":["Displasia mesomélica de Reinhardt-Pfeiffer","Enanismo mesomélico tipo Reinhardt-Pfeiffer","Síndrome de Reinhardt-Pfeiffer"],"definition":"Es un trastorno poco frecuente caracterizado por talla baja desproporcionada desde el nacimiento con displasia de cúbito y peroné."},"it":{"name":"Nanismo mesomelico, tipo Reinhardt-Pfeiffer","synonyms":["Displasia mesomelica di Reinhardt-Pfeiffer","Sindrome di Reinhardt-Pfeiffer"]},"nl":{"name":"Mesomele dwerggroei, Reinhardt-Pfeiffer-type","synonyms":["Mesomele dysplasie, Reinhardt-Pfeiffer-type","Syndroom van Reinhardt-Pfeiffer"],"definition":"Een zeldzame aandoening, gekenmerkt door disproportioneel kleine gestalte vanaf de geboorte met dysplasie van ellepijp en kuitbeen."},"pt":{"name":"Nanismo mesomélico, tipo Reinhardt-Pfeiffer","synonyms":["Síndrome Reinhardt-Pfeiffer"],"definition":"O nanismo mesomélico tipo Reinhardt-Pfeiffer é caracterizado por baixa estatura desproporcional desde o nascimento com displasia do cubito e peronio."},"pl":{"name":"Niskorosłość mezomeliczna typu Reinhardta i Pfeiffera","synonyms":["Dysplazja mezomeliczna Reinhardta i Pfeiffera","Zespół Reinhardta i Pfeiffera"]},"cs":{"name":"Mezomelické trpaslictví, Reinhardtův-Pfeifferův typ","synonyms":["Reinhardtova-Pfeifferova mezomelická dysplázie","Reinhardtův-Pfeifferův syndrom","Mezomelické trpaslictví, Reinhardt-Pfeifferův typ","Reinhardt-Pfeifferova mezomelická dysplázie","Reinhardt-Pfeifferův syndrom"]},"uk":{"name":"Мезомелічна карликовість, тип Рейнхардта-Пфайфера","synonyms":["Мезомелічна дисплазія Рейнхардта-Пфайфера","Синдром Рейнхардта-Пфайфера"],"definition":"A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula."},"zh":{"name":"肢中性侏儒，Reinhardt-Pfeiffer型","synonyms":["Reinhardt-Pfeiffer肢中骨发育不良"]},"tr":{"name":"Mezomelik cücelik, Reinhardt-Pfeiffer tipi","synonyms":["Reinhardt-Pfeiffer sendromu","Reinhardt-Pfeiffer mezomelik displazi"]}},"xrefs":[{"source":"OMIM","code":"191400","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":"1393171517"},{"source":"MONDO","code":"0008618","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537349","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1860616","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3555","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":["Autosomal dominant"],"onset":["Antenatal","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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0040071","label":"Abnormal morphology of ulna","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002992","label":"Abnormality of tibia morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003498","label":"Disproportionate short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003042","label":"Elbow dislocation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003038","label":"Fibular hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003022","label":"Hypoplasia of the ulna","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003048","label":"Radial head subluxation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010781","label":"Skin dimple","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009465","label":"Ulnar deviation of finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005048","label":"Synostosis of carpal bones","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null}]}}