{"orpha":324540,"name":"Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome","Aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome"],"definition":"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (incl. thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-324540/","orphanet_url":"https://www.orpha.net/en/disease/detail/324540","names":{"fr":{"name":"Syndrome d'aphonie-surdité-dystrophie rétinienne-gros orteil bifide-déficience intellectuelle","definition":"Anomalies congénitales multiples/syndrome dysmorphique caractérisé par une déficience intellectuelle modérée à sévère, une aphonie congénitale, une perte auditive, une atrophie optique, une dystrophie rétinienne, des pouces larges et des hallux dupliqués. Une dysmorphie faciale (sourcils épais, ptosis, fentes palpébrales longues et descendantes, microstomie, oreilles d'implantation basse et orientées en arrière), ainsi que des anomalies génitales, sont également associées."},"de":{"name":"Aphonie-Schwerhörigkeit-Retinadystrophie-Bifid Hallux-Intelligenzminderung-Syndrom","synonyms":["Aphonie-Hörverlust-Retinadystrophie-verdoppelte Großzehe-Intelligenzminderung-Syndrom"]},"es":{"name":"Síndrome de afonía-sordera-distrofia retiniana-hallux bífido-discapacidad intelectual","synonyms":["Síndrome de afonía-hipoacusia-distrofia retiniana-duplicación del hallux-discapacidad intelectual","Síndrome de afonía-sordera-distrofia retiniana-duplicación del hallux-discapacidad intelectual"],"definition":"Es un síndrome dismórfico por múltiples anomalías congénitas, genético y poco frecuente, caracterizado por discapacidad intelectual de moderada a grave, afonía congénita, pérdida auditiva, atrofia óptica, distrofia retiniana, pulgares anchos y duplicados. También tiene asociadas dismorfia facial (incluyendo cejas gruesas, ptosis, fisuras palpebrales largas e inclinadas hacia abajo, microstomia, orejas de implantación baja y rotadas posteriormente), así como anomalías genitales."},"it":{"name":"Sindrome da afonia, sordità, distrofia retinica, alluci bifidi e disabilità intellettiva","synonyms":["Afonia - sordità - distrofia retinica - duplicazione degli alluci - deficit cognitivo"],"definition":"La sindrome che associa l'afonia, la sordità, la distrofia retinica, gli alluci bifidi e la disabilità intellettiva è una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da disabilità intellettiva moderata-grave, afonia congenita, sordità, atrofia ottica, distrofia della retina, pollici larghi e duplicazione degli alluci. I pazienti presentano anche dismorfismi facciali (sopracciglia folte, ptosi, rime palpebrali lunghe oblique verso il basso, microstomia, orecchie a basso impianto ruotate posteriormente) ed anomalie dei genitali."},"nl":{"name":"Afonie - doofheid - retinale dystrofie - gespleten halluces - intellectuele achterstand-syndroom","synonyms":["Afonie - doofheid - retinale dystrofie - verdubbelde halluces - intellectuele achterstand-syndroom","Afonie - gehoorverlies - retinale dystrofie - verdubbelde halluces - intellectuele achterstand-syndroom"],"definition":"Een zeldzaam, genetisch meervoudige congenitale anomalieën/dysmorfie-syndroom, gekarakteriseerd door matige tot ernstige intellectuele achterstand, congenitale afonie, gehoorverlies, opticusatrofie, retinadystrofie, brede duimen en gedupliceerde halluces. Faciale dysmorfie (inclusief dikke wenkbrauwen, ptose, lange en schuin naar beneden hellende ooglidspleten, microstomie, laagstaande en naar achteren gedraaide oren) en genitale afwijkingen zijn ook geassocieerd."},"pt":{"name":"Síndrome de afonia-surdez-distrofia retiniana-hálux bífidos-perturbação do desenvolvimento intelectual","synonyms":["Síndrome de afonia-perda auditiva-distrofia retiniana-hálux bífidos-perturbação do desenvolvimento intelectual","Síndrome de afonia-surdez-distrofia retiniana-hálux duplicados-perturbação do desenvolvimento intelectual"]},"pl":{"name":"Afonia - głuchota - dystrofia siatkówki - rozszczep dużych palców stóp - niepełnosprawność intelektualna","synonyms":["Afonia - głuchota - dystrofia siatkówki - zdwojenie dużych palców stóp - niepełnosprawność intelektualna"],"definition":"*Afonia - głuchota - dystrofia siatkówki - rozszczep dużych palców stóp - niepełnosprawność intelektualna to rzadki, genetycznie uwarunkowany zespół mnogich wad wrodzonych/dysmorfii, w którym występuje umiarkowana lub znaczna niepełnosprawność intelektualna, wrodzony bezgłos, niedosłuch, zanik nerwu wzrokowego, dystrofia siatkówki, szerokie kciuki i zdwojone paluchy. Obserwuje się także dysmorfię twarzy (w tym grube brwi, opadanie powiek, długie i skośnie w dół ustawione szpary powiekowe, małe usta, nisko osadzone i zrotowane do tyłu uszy) oraz nieprawidłowości narządów płciowych."},"cs":{"name":"Syndrom zahrnující afonii, hluchotu, retinální dystrofii, zdvojené palce a mentální retardaci","synonyms":["Syndrom zahrnující afonii, hluchotu, retinální dystrofii, dvojité palce a mentální retardaci"]},"uk":{"name":"Синдром афонії-глухоти-дистрофії сітківки-bifid halluces-інтелектуальної недостатності","synonyms":["Ссиндром афонії-глухоти-дистрофії сітківки-подвоєних halluces- інтелектуальної недостатності","Ссиндром афонії-втрати слуху-дистрофії сітківки-подвоєних halluces- інтелектуальної недостатності"],"definition":"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, congenital aphonia, hearing loss, optic atrophy, retinal dystrophy, broad thumbs and duplicated halluces. Facial dysmorphism (incl. thick eyebrows, ptosis, long, downslanting palpebral fissures, microstomia, low-set, posteriorly rotated ears) and genital abnormalities are also associated."},"zh":{"name":"失音-耳聋-视网膜营养不良-双拇裂-智力障碍综合征","synonyms":["失音-听力丧失-视网膜营养不良-双拇趾-智力障碍综合征"],"definition":"一种罕见的遗传性多发性先天性异常/畸形综合征，其特征为中度至重度智力障碍、先天性失音、听力障碍、视神经萎缩、视网膜营养不良、宽拇指和双拇趾。面部畸形(包括浓眉、上睑下垂、睑裂长且向下倾斜、小口畸形、耳低位且后旋)和生殖器异常也与此相关。"},"tr":{"name":"Afoni-sağırlık-retinal distrofi-bifid halüsler-zihinsel yetersizlik sendromu","synonyms":["Afoni-sağırlık-retinal distrofi-duplike halüsler-zihinsel yetersizlik sendromu","Afoni-işitme kaybı-retina distrofi-duplike halüsler-zihinsel yetersizlik sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017934","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751006","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"22991300[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":"2019-10-17","source":"22991300[PMID]","terms":[{"hpo":"HP:0001488","label":"Bilateral ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010193","label":"Duplication of distal phalanx of toe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010066","label":"Duplication of phalanx of hallux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009537","label":"Flexion contracture of the 2nd finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009600","label":"Flexion contracture of thumb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001822","label":"Hallux valgus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000059","label":"Hypoplastic labia majora","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003186","label":"Inverted nipples","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009183","label":"Joint contracture of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001602","label":"Laryngeal stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000527","label":"Long eyelashes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000637","label":"Long palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001686","label":"Loss of voice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000556","label":"Retinal dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001799","label":"Short nail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008757","label":"Unilateral vocal cord paralysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000687","label":"Widely spaced teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000048","label":"Bifid scrotum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000064","label":"Hypoplastic labia minora","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000046","label":"Small scrotum","frequency":"Occasional (29-5%)","criteria":null}]}}