{"orpha":1051,"name":"Ramos-Arroyo syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Corneal anesthesia-deafness-intellectual disability syndrome","Corneal anesthesia-hearing loss-intellectual disability syndrome"],"definition":"Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature, and intellectual disability.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1051/","orphanet_url":"https://www.orpha.net/en/disease/detail/1051","names":{"fr":{"name":"Syndrome de Ramos-Arroyo","synonyms":["Syndrome d'anesthésie cornéenne-surdité-déficience intellectuelle"],"definition":"Maladie génétique très rare, caractérisée par une anesthésie cornéenne, des anomalies de la rétine, une perte auditive bilatérale, une dysmorphie faciale, la persistance du canal artériel, la maladie de Hirschsprung, une petite taille et une déficience intellectuelle."},"de":{"name":"Ramos-Arroyo-Syndrom","synonyms":["Korneale Hypästhesie-Schwerhörigkeit-Intelligenzminderung-Syndrom"]},"es":{"name":"Síndrome de Ramos-Arroyo","synonyms":["Síndrome de anestesia corneal-hipoacusia-discapacidad intelectual","Síndrome de anestesia corneal-sordera-discapacidad intelectual"],"definition":"El síndrome de Ramos-Arroyo (RAS) es un trastorno genético muy raro caracterizado por anestesia corneal, anomalías retinianas, pérdida auditiva bilateral, facies distintiva, conducto arterioso persistente, enfermedad de Hirschsprung (consulte estos términos), estatura baja y discapacidad intelectual."},"it":{"name":"Sindrome di Ramos-Arroyo","synonyms":["Sindrome anestesia corneale-sordità-disabilità intellettiva","Sindrome anestesia corneale-perdita dell’udito-disabilità intellettiva","Anestesia corneale - sordità - deficit cognitivo"],"definition":"La sindrome di Ramos-Arroyo (RAS) è una malattia genetica molto rara caratterizzata da anestesia corneale, anomalie retiniche, sordità bilaterale, facies caratteristica, pervietà del dotto arterioso, malattia di Hirschsprung (si vedano questi termini), bassa statura e deficit cognitivo."},"nl":{"name":"Syndroom van Ramos-Arroyo","synonyms":["Corneale anesthesie - doofheid - intellectuele achterstand-syndroom","Corneale anesthesie - gehoorverlies - intellectuele achterstand-syndroom"],"definition":"Ramos-Arroyosyndroom (RAS) is een zeer zeldzame, genetische aandoening gekenmerkt door corneale anesthesie, retinale afwijkingen, bilateraal gehoorverlies, een onderscheidend aangezicht, persisterende ductus arteriosus, de ziekte van Hirschsprung (zie deze termen), een kleine gestalte en een verstandelijke handicap."},"pt":{"name":"Síndrome Ramos-Arroyo","synonyms":["Síndrome de anestesia da córnea-perda auditiva-perturbação do desenvolvimento intelectual","Síndrome de anestesia da córnea-surdez-perturbação do desenvolvimento intelectual"]},"pl":{"name":"Zespół Ramosa i Arroyo","synonyms":["Zespół zaburzeń czucia rogówki, głuchoty i niepełnosprawności intelektualnej"],"definition":"Zespół Ramosa i Arroyo (RAS) jest bardzo rzadką chorobą genetyczną, charakteryzującą się znieczuleniem rogówki, nieprawidłowościami w siatkówce, obustronną utratą słuchu, charakterystycznym fenotypem twarzy, przetrwałym przewodem tętniczym, chorobą Hirschsprunga (zob. te hasła), niskim wzrostem i niepełnosprawnością intelektualną."},"cs":{"name":"Ramos-Arroyové syndrom","synonyms":["Syndrom zahrnující korneální anestezii, hluchotu a mentální retardaci"]},"uk":{"name":"Синдром Рамоса-Арройо","synonyms":["Синдром анестезії рогівки - глухоти - інтелектуальної недостатності","Синдром анестезії рогівки - втрати слуху - інтелектуальної недостатності"],"definition":"Ramos-Arroyo syndrome (RAS) is a very rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease (see these terms), short stature, and intellectual disability."},"zh":{"name":"Ramos-Arroyo综合征","synonyms":["角膜感觉异常-听力损失-智力障碍-综合征"]},"tr":{"name":"Ramos-Arroyo sendromu","synonyms":["Kornea anestezi-sağırlık-zihinsel yetersizlik sendromu","Kornea anestezi-işitme kaybı-zihinsel yetersizlik sendromu"]}},"xrefs":[{"source":"OMIM","code":"122430","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1441837186"},{"source":"MONDO","code":"0007382","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535286","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2930866","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4636","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[189]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"21910235[PMID]"},{"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":"2019-02-22","source":"21910235[PMID]_18241069[PMID]_2433942[PMID]","terms":[{"hpo":"HP:0000309","label":"Abnormal midface morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012155","label":"Decreased corneal sensation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012332","label":"Abnormal autonomic nervous system physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007980","label":"Absent retinal pigment epithelium","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002251","label":"Aganglionic megacolon","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008619","label":"Bilateral sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000283","label":"Broad face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030491","label":"Choriocapillaris atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011120","label":"Concave nasal ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004325","label":"Decreased body weight","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002194","label":"Delayed gross motor development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000491","label":"Keratitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000579","label":"Nasolacrimal duct obstruction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001525","label":"Severe failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000452","label":"Choanal stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000533","label":"Chorioretinal atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012450","label":"Chronic constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012804","label":"Corneal ulceration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000620","label":"Dacryocystitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004411","label":"Deviated nasal septum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012537","label":"Food intolerance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009890","label":"High anterior hairline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045025","label":"Narrow palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011451","label":"Primary microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000742","label":"Self-mutilation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010782","label":"Shoulder dimple","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006979","label":"Sleep-wake cycle disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010298","label":"Smooth tongue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002209","label":"Sparse scalp hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000217","label":"Xerostomia","frequency":"Occasional (29-5%)","criteria":null}]}}