{"orpha":959,"name":"Acro-renal-ocular syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare syndrome of multiple congenital anomalies characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis, and Duane anomaly). The phenotype overlaps with other <i>SALL4</i>-related disorders including Okihiro syndrome and Holt-Oram syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-959/","orphanet_url":"https://www.orpha.net/en/disease/detail/959","names":{"fr":{"name":"Syndrome acro-réno-oculaire","definition":"Anomalies congénitales multiples/syndromique rare caractérisé par la malformation du rayon radial, des malformations rénales (malrotation légère, ectopie, rein en fer à cheval, hypoplasie rénale, reflux vésico-urétéral, diverticules de la vessie), et des anomalies oculaires (principalement colobomes, mais aussi une microphtalmie, un ptosis et le syndrome de Duane). Le phénotype inclut d'autres maladies liées au gène <i>SALL4</i>, notamment le syndrome d'Okihiro et le syndrome de Holt-Oram."},"de":{"name":"Akro-reno-okuläres Syndrom"},"es":{"name":"Síndrome acro-reno-ocular","definition":"Es un síndrome de anomalías congénitas múltiples caracterizado por malformaciones de las estructuras radiales del antebrazo, anomalías renales (discreta malrotación, ectopia, riñón en herradura, hipoplasia renal, reflujo vesicoureteral, divertículos vesicales) y anomalías oftalmológicas (principalmente colobomas, pero también microftalmia, ptosis y anomalía de Duane). El fenotipo se solapa con otros trastornos asociados al gen <i>SALL4>/i>, que incluyen el síndrome de Okihiro y el síndrome de Holt-Oram. El patrón de transmisión es autosómico dominante."},"it":{"name":"Sindrome acro-reno-oculare","definition":"La sindrome acro-reno-oculare (AROS) è una malattia da anomalie congenite multiple, caratterizzata da malformazioni del radio, anomalie renali (malrotazione lieve, ectopia, rene a ferro di cavallo, reflusso vescico-ureterale, diverticoli vescicali) e anomalie oculari (soprattutto colobomi, ma anche microftalmia, ptosi e anomalia di Duane). Il quadro clinico si sovrappone a quello caratteristico di altre malattie correlate alle mutazioni del gene <i>SALL4</i> , come la sindrome di Okihiro e la sindrome di Holt-Oram (si vedano questi termini). La trasmissione è autosomica dominante."},"nl":{"name":"Acro-renaal-oculair syndroom","definition":"Een zeldzaam syndroom met meervoudige congenitale anomalieën, gekarakteriseerd door radiale straaldefecten, nierafwijkingen (milde malrotatie, ectopie, hoefijzernieren, nierhypoplasie, vesico-ureterale reflux, blaasdivertikels), en oftalmologische anomalieën (voornamelijk colobomen, maar ook microftalmie, ptose en anomalie van Duane). Het fenotype overlapt met andere stoornissen gerelateerd aan <i>SALL4</i>, waaronder syndroom van Okihiro en syndroom van Holt-Oram."},"pt":{"name":"Síndrome acro-reno-ocular"},"pl":{"name":"Zespół kończynowo-nerkowo-oczny"},"cs":{"name":"Akrorenálněokulární syndrom"},"uk":{"name":"Акро-ренально-очний синдром","definition":"A rare syndrome of multiple congenital anomalies characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis, and Duane anomaly). The phenotype overlaps with other <i>SALL4</i>-related disorders including Okihiro syndrome and Holt-Oram syndrome."},"zh":{"name":"肩胛-肾-眼综合征"},"tr":{"name":"Akro-renal-oküler sendrom"}},"xrefs":[{"source":"OMIM","code":"607323","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"UMLS","code":"C5848304","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]}],"children":[],"genes":[{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","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:0002818","label":"Abnormal morphology of the radius","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001172","label":"Abnormal thumb morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006501","label":"Aplasia/Hypoplasia of the radius","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004736","label":"Crossed fused renal ectopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000085","label":"Horseshoe kidney","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004712","label":"Renal malrotation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009650","label":"Short distal phalanx of the thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009778","label":"Short thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000015","label":"Bladder diverticulum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010059","label":"Broad hallux phalanx","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003022","label":"Hypoplasia of the ulna","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000588","label":"Optic disc coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007766","label":"Optic disc hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001177","label":"Preaxial hand polydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004059","label":"Radial club hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001852","label":"Sandal gap","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010109","label":"Short hallux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012745","label":"Short palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001199","label":"Triphalangeal thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002251","label":"Aganglionic megacolon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000567","label":"Chorioretinal coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000589","label":"Coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000482","label":"Microcornea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005792","label":"Short humerus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001883","label":"Talipes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002948","label":"Vertebral fusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003422","label":"Vertebral segmentation defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Occasional (29-5%)","criteria":null}]}}