{"orpha":3016,"name":"Absent radius-anogenital anomalies syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3016/","orphanet_url":"https://www.orpha.net/en/disease/detail/3016","names":{"fr":{"name":"Syndrome d'absence de radius-anomalies anogénitales","definition":"Syndrome rare d'origine génétique avec anomalies réductionnelles des membres caractérisé par une aplasie/hypoplasie radiale bilatérale se manifestant par des avant-bras absents/courts en association avec des anomalies anogénitales (par exemple hypospadias ou anus imperforé). En outre, des cas d'hydrocéphalie et d'absence pré-axiale de doigts ont été décrits. Aucun cas n'a été décrit dans la littérature depuis 1993."},"de":{"name":"Fehlender Radius-anogenitalen Anomalien-Syndrom"},"es":{"name":"Síndrome de radio ausente-anomalías anogenitales","definition":"Es un síndrome con defectos por reducción de las extremidades, genético y poco frecuente, caracterizado por aplasia / hipoplasia radial bilateral que se manifiesta con antebrazos ausentes / cortos en asociación con anomalías anogenitales (p. ej., hipospadias o ano imperforado). Otras características adicionales descritas incluyen hidrocefalia y ausencia de dígitos preaxiales (pulgares). No se han descrito más casos en la literatura desde 1993."},"it":{"name":"Sindrome da agenesia del radio ed anomalie anogenitali","definition":"La sindrome che associa agenesia del radio ed anomalie anogenitali è una malattia genetica rara da riduzione degli arti, caratterizzata da aplasia/ipoplasia bilaterale del radio, che si manifesta con l'aplasia/accorciamento degli avambracci, associata ad anomalie dell'ano e dei genitali (ad esempio ipospadia o ano imperforato). Altri segni clinici comprendono l'idrocefalo e l'agenesia preassiale delle dita. Non sono stati descritti nuovi casi dopo il 1993."},"nl":{"name":"Afwezige radius - anogenitale anomalieën-syndroom","definition":"Een zeldzaam, genetisch syndroom met ledemaatreductiedefecten, gekarakteriseerd door bilaterale aplasie/hypoplasie van spaakbeen die zich manifesteert met afwezige/korte onderarmen, geassocieerd met anogenitale anomalieën (e.g. hypospadieën of anusatresie). Bijkomende kenmerken die werden gerapporteerd, zijn onder meer hydrocefalie en afwezige preaxiale vingers. Sinds 1993 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de ausência de rádio-anomalias ano-genitais"},"pl":{"name":"Brak kości promieniowej - anomalie odbytu i narządów płciowych","definition":"*Brak kości promieniowej - anomalie odbytu i narządów płciowych jest rzadkim, genetycznie uwarunkowanym zespołem wad ubytkowych kończyn, który charakteryzuje się obustronną aplazją/hipoplazją kości promieniowej, powodującą skrócenie/brak przedramion, z towarzyszącymi wadami odbytu i zewnętrznych narządów płciowych (spodziectwo lub zarośnięcie odbytu). Dodatkowo opisywano wodogłowie i brak palców przedosiowo. Od 1993 roku nie ma nowych opisów w literaturze."},"cs":{"name":"Syndrom zahrnující chybějící radius a anogenitální anomálie"},"uk":{"name":"Синдром відсутності променевої кістки-аногенітальних аномалій","definition":"A rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993."},"zh":{"name":"无桡骨-肛门生殖器畸形综合征"},"tr":{"name":"Radyus yokluğu-anogenital anomali sendromu"}},"xrefs":[{"source":"OMIM","code":"312190","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010718","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535281","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749807","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4633","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"8456854[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8456854[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-09-12","source":null,"terms":[{"hpo":"HP:0100257","label":"Ectrodactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002984","label":"Hypoplasia of the radius","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012165","label":"Oligodactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004871","label":"Perineal fistula","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025023","label":"Rectal atresia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000143","label":"Rectovaginal fistula","frequency":"Frequent (79-30%)","criteria":null}]}}