{"orpha":1069,"name":"Aniridia-absent patella syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1069/","orphanet_url":"https://www.orpha.net/en/disease/detail/1069","names":{"fr":{"name":"Syndrome d'aniridie-rotule absente","definition":"Le syndrome d'aniridie-rotule absente est un syndrome décrit chez trois membres d'une même famille (un garçon, son père et sa grand-mère paternelle) et caractérisé par l'association d'une aniridie et d'une aplasie ou une hypoplasie de la rotule. La grand-mère présentait également une cataracte et un glaucome bilatéraux. Il n'y a pas eu de description ultérieure de la maladie dans la littérature depuis 1975."},"de":{"name":"Aniridie-Patellaaplasie-Syndrom"},"es":{"name":"Síndrome de aniridia-ausencia de rótula","definition":"Es un síndrome poco frecuente descrito en tres miembros de una familia (un niño, su padre y su abuela paterna), caracterizado por la asociación de aniridia con aplasia o hipoplasia patelar. La abuela presentaba también cataratas bilaterales y glaucoma. No ha habido más casos descritos en la literatura desde 1975."},"it":{"name":"Sindrome aniridia-agenesia della rotula"},"nl":{"name":"Aniridie - afwezige patella-syndroom","definition":"Een zeldzaam syndroom dat werd beschreven bij drie leden van een familie (een jongen, zijn vader, en zijn paternale grootmoeder), en dat gekarakteriseerd wordt door de associatie van aniridie met aplasie of hypoplasie van de knieschijf. De grootmoeder had ook bilateraal cataract en glaucoom. Sinds 1975 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de aniridia-ausência de rótula"},"pl":{"name":"Zespół aniridii i braku rzepki"},"cs":{"name":"Syndrom zahrnující aniridii a chybějící patellu"},"uk":{"name":"Синдром відсутності надколінка з аніридією","definition":"A rare syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975."},"zh":{"name":"无虹膜-髌骨缺如综合征"},"tr":{"name":"Aniridi olmayan patella sendromu"}},"xrefs":[{"source":"OMIM","code":"106220","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007120","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566281","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1862868","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"685","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98638,"name":"Rare disease with glaucoma as a major feature","classifications":[156,189]},{"orpha":98557,"name":"Syndromic aniridia","classifications":[147,156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"1218204[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1218204[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000526","label":"Aniridia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006498","label":"Aplasia/Hypoplasia of the patella","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null}]}}