{"orpha":2717,"name":"Oculotrichoanal syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["MOTA syndrome","Manitoba oculotrichoanal syndrome","Marles syndrome","Marles-Greenberg-Persaud syndrome"],"definition":"Oculotrichoanal syndrome is a form of rare, multiple congenital anomalies/dysmorphic syndrome characterized by a combination of various nose, eye, gastrointestinal and genitourinary abnormalities. Clinical presentation is variable and often includes bifid and broad nasal tip, aberrant anterior hairline, coloboma, cryptophthalmos or unilateral anophthalmia, anal anomalies, and omphalocele. Intelligence and global development is normal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2717/","orphanet_url":"https://www.orpha.net/en/disease/detail/2717","names":{"fr":{"name":"Syndrome oculo-tricho-anal","synonyms":["Syndrome MOTA","Syndrome de Marles"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique caractérisé par une association de diverses anomalies nasales, oculaires, gastro-intestinales et génito-urinaires. Variables, les signes cliniques comprennent souvent une pointe nasale bifide et large, une implantation aberrante de la ligne antérieure de cheveux, un colobome, une cryptophtalmie ou une anophtalmie unilatérale, des anomalies anales et une omphalocèle. L'intelligence et le développement global sont normaux."},"de":{"name":"Okulo-tricho-anales Syndrom","synonyms":["MOTA-Syndrom","Manitoba-okulo-tricho-anales Symdrom","Marles-Greenberg-Persaud-Syndrom","Marles-Syndrom"]},"es":{"name":"Síndrome óculo-trico-anal","synonyms":["Síndrome MOTA","Síndrome de Marles","Síndrome de Marles-Greenberg-Persaud","Síndrome óculo-trico-anal de Manitoba"],"definition":"El síndrome óculo-trico-anal es una forma poco frecuente de síndrome dismórfico con múltiples anomalías congénitas caracterizado por una combinación de diversas anomalías nasales, oculares, gastrointestinales y genitourinarias. La presentación clínica es variable e incluye, frecuentemente, punta nasal bífida y ancha, línea anterior de implantación del cabello aberrante, coloboma, criptoftalmía o anoftalmia unilateral, anomalías anales y onfalocele. La inteligencia y el desarrollo global son normales."},"it":{"name":"Sindrome oculo-trico-anale","synonyms":["Sindrome MOTA","Sindrome di Marles","Sindrome di Marles-Greenberg-Persaud","Sindrome oculo-trico-anale di Manitoba"],"definition":"La sindrome oculo-trico-anale è una malattia rara da anomalie/dismorfismi congeniti multipli, caratterizzata da anomalie nasali, oculari, gastrointestinali e genitourinarie. Il quadro clinico è variabile e spesso comprende la punta del naso ampia e bifida, l'attaccatura anomala dei capelli sulla fronte, il coloboma, il criptoftalmo o l'anoftalmia monolaterale, le anomalie anali e l'onfalocele. L'intelligenza e lo sviluppo globale sono normali."},"nl":{"name":"Oculo-tricho-anaal syndroom","synonyms":["Manitoba oculo-tricho-anaal syndroom"],"definition":"Oculo-tricho-anaal syndroom is een vorm van zeldzaam meervoudige congenitale anomalieën/dysmorfie-syndroom en wordt gekarakteriseerd door een combinatie van verscheidene neus-, oog-, gastro-intestinale en genito-urinaire afwijkingen. Het klinisch beeld is variabel en omvat vaak gespleten en brede neuspunt, afwijkende voorste haarlijn, coloboom, cryptoftalmos of unilaterale anoftalmie, anale anomalieën, en omfalocèle. Intelligentie en algehele ontwikkeling zijn normaal."},"pt":{"name":"Síndrome oculo-trico-anal","synonyms":["Síndrome Marles-Greenberg-Persaud"]},"pl":{"name":"Zespół oczno-włosowo-odbytowy","synonyms":["Zespół Marlesa","Zespół Marlesa, Greenberga i Persauda","Zespół MOTA","Zespół oczno-włosowo-odbytowy Manitoba"],"definition":"*Zespół oczno-włosowo-odbytowy jest rzadkim zespołem mnogich wad wrodzonych/zespołem dysmorficznym, który charakteryzuje się kombinacją różnych nieprawidłowości nosa, oczu, przewodu pokarmowego i układu moczowo-płciowego. Obraz kliniczny jest zmienny: często obserwuje się zdwojony i szeroki czubek nosa, nieprawidłową przednią linię włosów, szczelinę struktur oka (coloboma), kryptoftalmię (pokrycie przez skórę powiek i szpary powiekowej) lub jednostronne bezocze, wady odbytu i przepuklinę pępowinową. Inteligencja i całościowy rozwój są prawidłowe."},"cs":{"name":"Okulotrichoanální syndrom","synonyms":["MOTA syndrom","Manitobský okulotrichoanální syndrom","Marlesové syndrom","Marlesové-Greenbergové-Persaudův syndrom","Marles-Greenberg-Persaudův syndrom"]},"uk":{"name":"Окулотрихоанальний синдром","synonyms":["Манітобський окулотрихоанальний синдром","Синдром Марлеса","Синдром Марлеса-Грінберга-Персо","Синдром MOTA"],"definition":"Oculotrichoanal syndrome is a form of rare, multiple congenital anomalies/dysmorphic syndrome characterized by a combination of various nose, eye, gastrointestinal and genitourinary abnormalities. Clinical presentation is variable and often includes bifid and broad nasal tip, aberrant anterior hairline, coloboma, cryptophthalmos or unilateral anophthalmia, anal anomalies, and omphalocele. Intelligence and global development is normal."},"zh":{"name":"眼毛发肛门综合征","synonyms":["Marles-Greenberg-Persaud 综合征"]},"tr":{"name":"Okülotrikanal sendrom","synonyms":["MOTA sendromu","Marles sendromu","Manitoba okulotrikoanal sendromu","Marles-Greenberg-Persaud sendromu"]}},"xrefs":[{"source":"OMIM","code":"248450","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009560","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536022","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1855425","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3395","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]},{"orpha":98566,"name":"Syndromic eyelid coloboma","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"FREM1","name":"FRAS1 related extracellular matrix 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301721[PMID]","hgnc":"23399","ensembl":"ENSG00000164946","omim":"608944","loci":["9p22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"20301721[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20301721[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0010720","label":"Abnormal hair pattern","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000636","label":"Upper eyelid coloboma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002025","label":"Anal stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001545","label":"Anteriorly placed anus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000579","label":"Nasolacrimal duct obstruction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000528","label":"Anophthalmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000456","label":"Bifid nasal tip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001126","label":"Cryptophthalmos","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Occasional (29-5%)","criteria":null}]}}