{"orpha":3015,"name":"Radio-renal syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3015/","orphanet_url":"https://www.orpha.net/en/disease/detail/3015","names":{"fr":{"name":"Syndrome radio-rénal","definition":"Anomalie rare du développement embryonnaire caractérisée par des malformations réductionnelles des membres supérieurs et des anomalies rénales de degré variable. Les patients présentent typiquement une absence/hypoplasie des doigts, des radius et/ou de l'ulna, une petite taille et une légère malformation de l'oreille externe, ainsi qu'une agénésie ou une ectopie rénale. Aucun cas n'a été décrit dans la littérature depuis 1983."},"de":{"name":"Radial-renales Syndrom","definition":"Das radio-renale Syndrom ist ein seltener Entwicklungsdefekt während der Embryogenese, der durch variable Reduktionsdefekte der oberen Gliedmaßen und Nierenanomalien gekennzeichnet ist. Das Syndrom manifestiert sich typischerweise durch fehlende/hypoplastische Zehen, Aplasie/Hypoplasie von Radius und/oder Ulna, einen Kleinwuchs und eine leichte Fehlbildung der äußeren Ohren sowie eine Nierenagenesie oder -ektopie. Seit 1983 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome radio-renal","definition":"Es un defecto del desarrollo embrionario poco frecuente, caracterizado por defectos variables de reducción de las extremidades superiores y anomalías renales. Los afectados suelen presentar ausencia / hipoplasia de los dedos, radios y/o cúbitos, talla baja y leve malformación del oído externo, así como agenesia renal o ectopia. No se han descrito más casos en la literatura desde 1983."},"it":{"name":"Sindrome radio-renale","definition":"La sindrome radio-renale è un difetto genetico raro dello sviluppo dell'embrione, caratterizzato da difetti in riduzione degli arti superiori di gravità variabile e da anomalie renali. Di solito i pazienti presentano aplasia/ipoplasia delle dita, del radio e/o dell'ulna, bassa statura, malformazioni sfumate dell'orecchio esterno e agenesia o ectopia dei reni. Non sono stati descritti nuovi casi dopo il 1983."},"nl":{"name":"Radio-renaal syndroom","definition":"Radio-renaal syndroom is een zeldzaam ontwikkelingsdefect tijdens de embryogenese dat gekarakteriseerd wordt door variabele reductiedefecten van de bovenste ledematen en nieranomalieën. Patiënten vertonen doorgaans afwezigheid/hypoplasie van vingers/tenen, radii en/of ulnae, kleine gestalte en milde malformatie van het buitenoor, alsook agenesie of ectopie van de nier. Sinds 1983 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome radio-renal"},"pl":{"name":"Zespół promieniowo-nerkowy","definition":"*Zespół promieniowo-nerkowy jest rzadką wadą rozwojową powstałą podczas embriogenezy, która charakteryzuje się wadami ubytkowymi kończyn o różnym stopniu nasilenia i wadami nerek. W obrazie klinicznym typowo obserwuje się brak/niedorozwój palców, kości promieniowych i/lub łokciowych, niski wzrost i łagodne wady ucha zewnętrznego, a także agenezję nerek lub ich ektopię. Od 1983 roku w literaturze nie pojawiły się nowe opisy tego zespołu."},"cs":{"name":"Radiorenální syndrom"},"uk":{"name":"Радіоренальний синдром","definition":"Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983."},"zh":{"name":"桡骨-肾综合征"},"tr":{"name":"Radyo-renal sendromu"}},"xrefs":[{"source":"OMIM","code":"179280","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008359","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536267","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931146","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"224","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":404574,"name":"Genetic syndrome with limb reduction defects","classifications":[156]},{"orpha":294955,"name":"Syndrome with limb reduction defects","classifications":[147,199]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"7363497[PMID]_6829604[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7363497[PMID]_"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-09-12","source":null,"terms":[{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009811","label":"Abnormality of the elbow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010310","label":"Chylothorax","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000444","label":"Convex nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002984","label":"Hypoplasia of the radius","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000003","label":"Multicystic kidney dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002202","label":"Pleural effusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000104","label":"Renal agenesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000110","label":"Renal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Very frequent (99-80%)","criteria":null}]}}