{"orpha":2980,"name":"Acrootoocular syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Pseudopapilledema-blepharophimosis-hand anomalies syndrome"],"definition":"A very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2980/","orphanet_url":"https://www.orpha.net/en/disease/detail/2980","names":{"fr":{"name":"Syndrome acrootooculaire","synonyms":["Syndrome de pseudo-oedème de la papille-blépharophimosis-main anormale"],"definition":"Le syndrome acro-oto-oculaire est un syndrome très rare associant un pseudo-oedème de la papille (gonflement du disque optique non secondaire à une augmentation de la pression intracrânienne), une surdité mixte, une dysmorphie faciale et des anomalies des extrémités."},"de":{"name":"Akro-oto-okuläres Syndrom","synonyms":["Pseudopapillenödem - Blepharophimose - Anomalien der Hände"],"definition":"Das Akro-oto-okuläre Syndrom ist eine sehr seltene Erkrankung mit Pseudo-Papillenödem (Schwellung der Papille bei normalem intrakraniellen Druck), gemischter Schwerhörigkeit, fazialen Dysmorphien und distalen Anomalien der Gliedmaßen."},"es":{"name":"Síndrome acro-oto-ocular","synonyms":["Síndrome de pseudopapiledema-blefarofimosis-anomalías de la mano"],"definition":"Es un trastorno muy poco frecuente que asocia pseudopapiledema (edema del disco óptico no secundario a un aumento de la presión intracraneal), pérdida de auditición mixta, dismorfia facial y anomalías en las extremidades."},"it":{"name":"Sindrome acro-oto-oculare","synonyms":["Pseudopapilledema - blefarofimosi - anomalie delle mani"],"definition":"La sindrome acro-oto-oculare è una malattia molto rara caratterizzata dall'associazione tra pseudoedema della papilla (rigonfiamento del disco ottico non secondario all'aumento della pressione intracranica), sordità mista, dismorfismi facciali e anomalie delle estremità."},"nl":{"name":"Acro-oto-oculair syndroom","synonyms":["Pseudopapiloedeem - blefarofimose - handanomalieën-syndroom"],"definition":"Een zeer zeldzame aandoening met associatie van pseudopapiloedeem (zwelling van oogzenuwkop niet secundair aan verhoogde intracraniële druk), gemengd gehoorverlies, faciale dysmorfie en anomalieën van extremiteiten van ledematen."},"pt":{"name":"Síndrome acro-oto-ocular","synonyms":["Síndrome de pseudo-papiledema-blefarofimose-anomalias da mão"],"definition":"A síndrome acro-oto-ocular é uma patologia muito rara que associa pseudopapiledema (edema do disco óptico não secundário ao aumento da pressão intracraniana), surdez mista, anomalias morfométricas faciais e anomalias das extremidades dos membros."},"pl":{"name":"Zespół kończynowo-uszno-oczny","synonyms":["Zespół rzekomego obrzęku tarczy nerwu wzrokowego, zwężenia szpary powiekowej i anomalii rąk"]},"cs":{"name":"Akrootookulární syndrom","synonyms":["Syndrom zahrnující pseudoedém papily, blefarospasmus a anomálie ruky"]},"uk":{"name":"Акроотоокулярний синдром","synonyms":["Синдром псевдопапіломи-блефарофімозу-аномалії кисті"],"definition":"A very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies."},"zh":{"name":"四肢-耳-眼综合征","synonyms":["假性视神经乳头水肿-睑裂狭小-手异常综合征"]},"tr":{"name":"Akrootooküler sendrom","synonyms":["Psödopapilödem-blefarofimoz-el anomalileri sendromu"]}},"xrefs":[{"source":"OMIM","code":"264475","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009920","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564866","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1849661","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4559","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":519339,"name":"Pseudopapilledema","classifications":[156,189]},{"orpha":98578,"name":"Rare disorder with ptosis","classifications":[147,156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-01-03","source":"9415472[PMID]_1785624[PMID]","terms":[{"hpo":"HP:0006143","label":"Abnormal finger flexion creases","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000363","label":"Abnormality of earlobe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000301","label":"Abnormality of facial musculature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000674","label":"Anodontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000413","label":"Atresia of the external auditory canal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030842","label":"Choking episodes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012725","label":"Cutaneous syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006184","label":"Decreased palmar creases","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000824","label":"Decreased response to growth hormone stimulation test","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000689","label":"Dental malocclusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000683","label":"Grayish enamel","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007481","label":"Hyperpigmented nevi","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000601","label":"Hypotelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010765","label":"Palmar hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012428","label":"Prominent calcaneus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000538","label":"Pseudopapilledema","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:0009381","label":"Short finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010049","label":"Short metacarpal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001831","label":"Short toe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010487","label":"Small hypothenar eminence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001245","label":"Small thenar eminence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011069","label":"Supernumerary tooth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012810","label":"Wide nasal base","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Excluded (0%)","criteria":null}]}}