{"orpha":93293,"name":"Okihiro syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Duane-radial ray syndrome"],"definition":"A rare multiple congenital anomalies syndrome characterized by the association of uni- or bilateral radial defects, uni- or bilateral Duane anomaly (congenital limited horizontal eye movement accompanied by globe retraction which results in narrowing of the palpebral fissure), renal abnormalities, sensorineural and/or conductive hearing loss, and, less frequently, imperforate anus and scoliosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93293/","orphanet_url":"https://www.orpha.net/en/disease/detail/93293","names":{"fr":{"name":"Syndrome d'Okihiro","synonyms":["Syndrome de Duane-anomalie du rayon radial"],"definition":"Syndrome polymalformatif caractérisé par l'association d'une atteinte radiale uni ou bilatérale, une anomalie de Duane uni ou bilatérale (limitation congénitale des mouvements oculaires horizontaux accompagnée d'une rétraction du globe oculaire résultant en un rétrécissement des fentes palpébrales), une malformation rénale, une surdité de perception ou de transmission, et plus rarement, une imperforation anale et/ou une scoliose."},"de":{"name":"Okihiro-Syndrom","synonyms":["Radiales Fehlbildungssyndrom mit Duane-Retraktionssyndrom"],"definition":"Ein seltenes Syndrom mit multiplen kongenitalen Anomalien, das durch die Assoziation von ein- oder beidseitigen Radialdefekten, ein- oder beidseitiger Duane-Anomalie (angeborene eingeschränkte horizontale Augenbewegung, begleitet von einer Retraktion des Augapfels, die zu einer Verengung der Lidspalte führt), Nierenanomalien, Schallempfindungs- und/oder Schallleitungsschwerhörigkeit und, seltener, Analatresie und Skoliose gekennzeichnet ist."},"es":{"name":"Síndrome de Okihiro","synonyms":["Síndrome de Duane del rayo radial"],"definition":"Es un síndrome de anomalías congénitas múltiples poco frecuente caracterizado por la asociación de defectos radiales uni- o bilaterales, anomalía de Duane uni- o bilateral (limitación congénita del movimiento ocular horizontal acompañada de retracción del globo ocular que resulta en estrechamiento de la fisura palpebral), anomalías renales, hipoacusia neurosensorial y/o conductiva y, con menor frecuencia, ano imperforado y escoliosis."},"it":{"name":"Sindrome di Okihiro","synonyms":["Sindrome di Duane - anomalia del raggio radiale"],"definition":"Si tratta di una malattia rara da anomalie congenite multiple, caratterizzata da difetti radiali mono- o bilaterali, anomalia di Duane mono- o bilaterale (limitazione congenita dei movimenti oculari orizzontali, associata alla retrazione del globo che causa il restringimento della rima palpebrale), anomalie renali, sordità neurosensoriale e/o di conduzione e, più di rado, ano imperforato e scoliosi."},"nl":{"name":"Syndroom van Okihiro","synonyms":["Duane-radiale lijnsyndroom"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën, gekenmerkt door de associatie van uni- of bilaterale radiale defecten, uni- of bilaterale Duane-anomalie (congenitale beperking van horizontale oogbeweging vergezeld van retractie van oogbol wat resulteert in vernauwing van ooglidspleet), nieranomalieën, sensorineuraal en/of conductief gehoorverlies, en, minder frequent, anusatresie en scoliose."},"pt":{"name":"Síndrome Okihiro","definition":"Síndrome de anomalias congénitas múltiplas rara, caracterizada pela associação de defeitos radiais uni ou bilaterais, anomalia Duane uni ou bilateral (limitação congénita do movimento horizontal do olho acompanhado de retração do globo que resulta em estreitamento da fissura palpebral), anomalias renais, neurossensoriais e/ou ou perda auditiva de condução e, menos frequentemente, ânus imperfurado e escoliose."},"pl":{"name":"Zespół Okihiro","synonyms":["Zespół anomalii Duana i kości piszczelowej"]},"cs":{"name":"Okihirův syndrom","synonyms":["Duanova anomálie s abnormalitami radiálního paprsku"]},"uk":{"name":"Синдром Окіхіро","synonyms":["Синдром Дуейна - променевого синдрому"],"definition":"A rare multiple congenital anomalies syndrome characterized by the association of uni- or bilateral radial defects, uni- or bilateral Duane anomaly (congenital limited horizontal eye movement accompanied by globe retraction which results in narrowing of the palpebral fissure), renal abnormalities, sensorineural and/or conductive hearing loss, and, less frequently, imperforate anus and scoliosis."},"zh":{"name":"Okihiro综合征","synonyms":["Duane-桡侧综合征"],"definition":"Okihiro综合征是一种多发性先天性异常综合征，以眼部表现为特征（单侧或双侧Duane眼球后退（95%的病例）、先天性视神经发育不全或视盘缺损）、双侧耳聋和radial ray malformation ，包括鱼际发育不全和/或拇指发育不全或发育不全，桡骨发育不全或不发育，前臂短缩和桡侧偏曲，三指节拇指，拇指重复（轴前多指）。该病表型与其他SALL4 inf /i inf 基因相关疾病重叠，包括肢端-肾-眼综合征和心-肢体综合征（见这些词条）。遗传模式是常染色体显性遗传。"},"tr":{"name":"Okihiro sendromu","synonyms":["Duane-radyal ışın sendromu"]}},"xrefs":[{"source":"OMIM","code":"607323","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":"index","validated":true,"icd11_uri":"1329819215"},{"source":"MONDO","code":"0011812","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1623209","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9182","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98518,"name":"Congenital cranial dysinnervation disorder","classifications":[147,156,181]},{"orpha":404574,"name":"Genetic syndrome with limb reduction defects","classifications":[156]},{"orpha":294955,"name":"Syndrome with limb reduction defects","classifications":[147,199]},{"orpha":117573,"name":"Syndromic anorectal malformation","classifications":[147,156,182,233]},{"orpha":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[{"orpha":261638,"name":"Okihiro syndrome due to 20q13 microdeletion","type":"Etiological subtype"},{"orpha":261647,"name":"Okihiro syndrome due to a point mutation","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"SALL4","name":"spalt like transcription factor 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16086360[PMID]_20301547[PMID]","hgnc":"15924","ensembl":"ENSG00000101115","omim":"607343","loci":["20q13.2"],"via":{"orpha":261647,"name":"Okihiro syndrome due to a point mutation"}},{"symbol":"SALL4","name":"spalt like transcription factor 4","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"16086360[PMID]_20301547[PMID]","hgnc":"15924","ensembl":"ENSG00000101115","omim":"607343","loci":["20q13.2"],"via":{"orpha":261638,"name":"Okihiro syndrome due to 20q13 microdeletion"}}],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":125.0,"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":null}