{"orpha":1352,"name":"Atrioventricular defect-blepharophimosis-radial and anal defect syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Houlston-Ironton-Temple syndrome"],"definition":"A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1352/","orphanet_url":"https://www.orpha.net/en/disease/detail/1352","names":{"fr":{"name":"Syndrome de cardiopathie-blépharophimosis-anomalie du radius-anomalie anale","synonyms":["Syndrome de Houlston-Ironton-Temple"],"definition":"Le syndrome de cardiopathie-blépharophimosis-anomalie du radius-anomalie anale est un syndrome génétique rare d'anomalies congénitales multiples. Il se caractérise par une communication atrioventriculaire et un blépharophimosis, associés à des anomalies du radius (par ex. radius aplasique, ulna raccourci, clinodactylie du cinquième doigt, absence du pouce et de la première métacarpe) et anales (par ex. anus imperforé ou situé au niveau antérieur, fistule rectovaginale)."},"de":{"name":"Atrioventrikulärer Defekt-Blepharophimose- Radial-und Analdefekt-Syndrom","synonyms":["Houlston-Ironton-Temple-Syndrom"]},"es":{"name":"Síndrome de defecto auriculoventricular-blefarofimosis-defecto radial y anal","definition":"Es un síndrome de origen genético poco frecuente por anomalías congénitas múltiples caracterizado por defectos septales atrioventriculares y blefarofimosis, además de defectos radiales (p. ej., radio aplásico, cúbito acortado, clinodactilia del quinto dedo, ausencia del primer metacarpo y pulgar) y defectos anales (p. ej., ano imperforado o mal posicionado, fístula rectovaginal)."},"it":{"name":"Difetto atrioventricolare - blefarofimosi - difetti radiali e anali","synonyms":["Sindrome di Houlston-Ironton-Temple"],"definition":"Il difetto atrioventricolare con blefarofimosi e difetti radiali e anali è una malattia genetica rara da anomalie congenite multiple, caratterizzata da difetti del setto atrioventricolare e blefarofimosi, associati ad anomalie radiali (aplasia del radio, accorciamento dell'ulna, clinodattilia del quinto dito, assenza del primo metacarpo e del pollice) e anali (ano imperforato o anteriorizzato, fistola retto-vaginale)."},"nl":{"name":"Atrioventriculair defect - blefarofimosis - radiaal en anaal defect-syndroom","definition":"Een zeldzaam, genetisch syndroom met meervoudige congenitale anomalieën, gekarakteriseerd door atrioventriculaire septumdefecten en blefarofimose, bovenop radiale (e.g. aplastische radius, verkorte ulna, clinodactylie van vijfde vinger, afwezige eerste metacarpaal en duim) en anale (e.g. niet-geperforeerde of anterieur geplaatste anus, rectovaginale fistel) defecten."},"pt":{"name":"Síndrome de defeito aurículo-ventricular-blefarofimose-defeitos radial e anal","synonyms":["Síndrome Houlston-Ironton-Temple"]},"pl":{"name":"Wada przedsionkowo-komorowa - zwężenie szpary powiekowej - wady kości promieniowej","synonyms":["Zespół Houlstona, Irontona i Temple'a"]},"cs":{"name":"Syndrom zahrnující atrioventrikulární defekt, blefarofimózu a defekty radia a anu","synonyms":["Houlstonův-Irontonův-Templeův syndrom","Houlston-Ironton-Templeův syndrom"]},"uk":{"name":"Синдром атріовентрикулярної вади - блефарофімозу - променевої та анальної вади","synonyms":["Синдром Хоулстона-Іронтона-Темпла"],"definition":"A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects."},"zh":{"name":"房室缺损-睑裂狭小-桡骨和肛门缺如综合征","synonyms":["Houlston-Ironton-Temple综合征"]},"tr":{"name":"Atriyoventriküler defekt-blefarofimoz-radyal ve anal defekt sendromu","synonyms":["Houlston-Ironton-Temple sendromu"]}},"xrefs":[{"source":"OMIM","code":"600123","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010825","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706259","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":98578,"name":"Rare disorder with ptosis","classifications":[147,156,189]},{"orpha":156532,"name":"Rare syndrome with cardiac malformations","classifications":[147,148,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"8031543[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8031543[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001107","label":"Ocular albinism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000119","label":"Abnormality of the genitourinary system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003974","label":"Absent radius","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001545","label":"Anteriorly placed anus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010035","label":"Aplasia of the 1st metacarpal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009601","label":"Aplasia/Hypoplasia of the thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000378","label":"Cupped ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000364","label":"Hearing abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003022","label":"Hypoplasia of the ulna","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null}]}}