{"orpha":1021,"name":"Amaurosis-hypertrichosis syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare, syndromic, inherited retinal disorder characterized by cone-rod type congenital amaurosis, severe retinal dystrophy leading to visual impairment and profound photophobia (without night blindness), and trichomegaly (bushy eyebrows with synophrys, excessive facial and body hair (including marked circumareolar hypertrichosis). There have been no further descriptions in the literature since 1989.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1021/","orphanet_url":"https://www.orpha.net/en/disease/detail/1021","names":{"fr":{"name":"Syndrome d'amaurose-hypertrichose","definition":"Maladie rétinienne héréditaire syndromique rare caractérisée par une amaurose congénitale avec l'atteinte des cônes-bâtonnets, une dystrophie rétinienne sévère entraînant une déficience visuelle et une photophobie profonde (sans cécité nocturne), et une trichomégalie (sourcils anormalement longs avec une synophridie, une pilosité excessive du visage et du corps, y compris une hypertrichose marquée au niveau de l'aréole mammaire). Aucun cas n'a été décrit dans la littérature depuis 1989."},"de":{"name":"Amaurose-Hypertrichose-Syndrom","definition":"Eine seltene syndromale Netzhauterkrankung, die gekennzeichnet ist durch kongenitale Amaurose vom Zapfen-Stäbchen-Typ, schwere Netzhautdystrophie, die zu einer Sehbehinderung und einer ausgeprägten Photophobie (ohne Nachtblindheit) führt und Haaranomalien (Trichomegalie, buschige Augenbrauen mit Synophris und exzessive Behaarung des Gesichtes und des Körpers). Seit 1989 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de amaurosis-hipertricosis","definition":"Es un trastorno retiniano sindrómico, hereditario y poco frecuente, caracterizado por amaurosis congénita de tipo cono-bastón, grave distrofia retiniana que conduce a discapacidad visual y fotofobia profunda (sin ceguera nocturna) y tricomegalia (cejas tupidas con sinofridia), exceso de vello facial y corporal (incluyendo marcada hipertricosis circumareolar). No ha habido más casos descritos en la literatura desde 1989."},"it":{"name":"Sindrome da amaurosi-ipertricosi","definition":"Si tratta di una retinopatia ereditaria sindromica rara, caratterizzata da amaurosi congenita dei coni e dei bastoncelli, grave distrofia della retina che esita nella compromissione della vista e nella fotofobia profonda (in assenza di cecità notturna), e tricomegalia (sopracciglia folte con sinofria, ipertricosi del viso e del corpo, compresa una marcata ipertricosi circumareolare). Non sono stati descritti nuovi casi dopo il 1989."},"nl":{"name":"Amaurosis - hypertrichose-syndroom","definition":"Een zeldzame, syndromale, erfelijke aandoening van netvlies, gekarakteriseerd door kegel-staaf-type congenitale amaurose, ernstige retinale dystrofie met visuele stoornis en ernstige fotofobie (zonder nachtblindheid) tot gevolg, en trichomegalie (dikke wenkbrauwen met synophrys, excessieve gezichts- en lichaamsbeharing (inclusief aanzienlijke hypertrichose rond de tepelhof). Sinds 1989 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de amaurose-hipertricose"},"pl":{"name":"Zespół ślepoty jednoocznej i hipertrichozy"},"cs":{"name":"Syndrom zahrnující amaurózu a hypertrichózu"},"uk":{"name":"Амаврозно-гіпертрихозний синдром","definition":"A rare, syndromic, inherited retinal disorder characterized by cone-rod type congenital amaurosis, severe retinal dystrophy leading to visual impairment and profound photophobia (without night blindness), and trichomegaly (bushy eyebrows with synophrys, excessive facial and body hair (including marked circumaleolar hypertrichosis). There have been no further descriptions in the literature since 1989."},"zh":{"name":"黑蒙多毛综合征"},"tr":{"name":"Amoroz-hipertrikoz sendromu"}},"xrefs":[{"source":"OMIM","code":"204110","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H35.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9B70","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"874544641"},{"source":"MONDO","code":"0008766","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536604","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303739","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"637","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":79365,"name":"Rare disorder with hypertrichosis","classifications":[156,187]},{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"2769722[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2769722[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000499","label":"Abnormal eyelash morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002208","label":"Coarse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000548","label":"Cone/cone-rod dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008499","label":"High hypermetropia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000556","label":"Retinal dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000574","label":"Thick eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very frequent (99-80%)","criteria":null}]}}