{"orpha":971,"name":"Acrorenal syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-971/","orphanet_url":"https://www.orpha.net/en/disease/detail/971","names":{"fr":{"name":"Syndrome acro-rénal","definition":"Le syndrome acro-rénal comprend un large spectre de troubles malformatifs congénitaux, caractérisés par l'association d'anomalies des membres distaux (généralement, fente bilatérale des mains et/ou des pieds) et de malformations rénales (agénésie unilatérale ou bilatérale, hypoplasie urétérale , reflux vésico-urétéral), pouvant être associées à une variété d'anomalies extrarénales, telles que des malformations de la paroi abdominale, des atrésies intestinales, des anomalies génitales et des malformations pulmonaires. Des cas familiaux avec un mode de transmission autosomique récessif suspecté ont été rapportés."},"de":{"name":"Akrorenales Syndrom"},"es":{"name":"Síndrome acrorrenal","definition":"Este término engloba un amplio espectro de trastornos malformativos congénitos caracterizados por la coexistencia de anomalías de las extremidades distales (normalmente manos y/o pies hendidos bilaterales) y problemas renales (agenesia unilateral o bilateral), que pueden asociarse a otras anomalías como las del sistema genitourinario (anomalías genitales, hipoplasia ureteral o reflujo vesicoureteral), defectos de la pared abdominal, atresia intestinal y malformaciones pulmonares. Se han registrado casos familiares en los que se sospecha una herencia autosómica recesiva."},"it":{"name":"Sindrome acrorenale"},"nl":{"name":"Acrorenaal syndroom","definition":"Een spectrum van congenitale, malformatieve aandoeningen, gekarakteriseerd door het samen voorkomen van anomalieën van distale ledematen (meestal bilateraal gespleten voet en/of hand) en nierdefecten (e.g. unilaterale of bilaterale agenesie), die geassocieerd kunnen zijn met een verscheidenheid aan andere afwijkingen zoals anomalieën van het urogenitale stelsel (genitale afwijkingen, ureterale hypoplasie, vesico-ureterale reflux), defecten van de buikwand, intestinale atresie, en longmisvormingen. Er werden familiale gevallen gerapporteerd waarbij een autosomaal recessieve overerving werd vermoed."},"pt":{"name":"Síndrome acro-renal"},"pl":{"name":"Zespół kończynowo-nerkowy"},"cs":{"name":"Akrorenální syndrom"},"uk":{"name":"Акроренальний синдром","definition":"A spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected."},"zh":{"name":"肢端肾综合征"},"tr":{"name":"Akrorenal sendrom"}},"xrefs":[{"source":"OMIM","code":"102520","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"201310","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1948375645"},{"source":"MONDO","code":"0007059","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563159","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3495490","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"514","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0012210","label":"Abnormal renal morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001171","label":"Split hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040071","label":"Abnormal morphology of ulna","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002992","label":"Abnormality of tibia morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006501","label":"Aplasia/Hypoplasia of the radius","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null}]}}