{"orpha":1968,"name":"Flat face-microstomia-ear anomaly syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Blepharophimosis-telecanthus-microstomia syndrome","Simosa craniofacial syndrome","Simosa-Penchaszadeh-Bustos syndrome"],"definition":"Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1968/","orphanet_url":"https://www.orpha.net/en/disease/detail/1968","names":{"fr":{"name":"Syndrome de face plate-microstomie-anomalie de l'oreille","synonyms":["Syndrome craniofacial de Simosa","Syndrome de blépharophimosis-télécanthus-microstomie"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare d'origine génétique caractérisé par une dysmorphie faciale à type de front haut, d'étage moyen de la face allongé et aplati, de sourcils arqués et clairsemés, de fentes palpébrales courtes, de télécanthus, de nez long avec narines hypoplasiques, de long philtrum, de palais ogival, de microstomie et de commissures tombantes. Les oreilles, dont le pavillon est malformé de manière caractéristique, sont grandes, d'implantation basse et orientées vers l'arrière. Une voix nasale est associée. Aucun cas n'a été décrit dans la littérature depuis 1994."},"de":{"name":"Flaches Gesicht-Mikrostomie-Ohranomalie-Syndrom","synonyms":["Blepharophimose-Telekanthus-Mikrostomie-Syndrom","Kraniofaziales Syndrom Simosa","Simosa-Penchaszadeh-Bustos-Syndrom"]},"es":{"name":"Síndrome de cara plana-microstomía-anomalías de las orejas","synonyms":["Síndrome craneofacial de Simosa","Síndrome de Simosa-Penchaszadeh-Bustos","Síndrome de blefarofimosis-telecanto-microstomía"],"definition":"El síndrome de cara plana - microstomía - anomalías de las orejas, es un síndrome dismórfico por anomalías congénitas múltiples, genético y poco frecuente, caracterizado por rasgos dismórficos faciales, que incluyen frente alta, tercio medio facial alargado y aplanado, cejas arqueadas y escasas, fisuras palpebrales cortas, telecanto, nariz larga con hipoplasia de fosas nasales, surco nasolabial largo, paladar alto y estrecho y microstomía con las comisuras labiales inclinadas hacia abajo. También asocia voz hipernasal y malformaciones del pabellón auricular con orejas grandes, de implantación baja y rotadas posteriormente. No se han descrito más casos en la literatura desde 1994."},"it":{"name":"Sindrome da viso appiattito, microstomia ed anomalie dell'orecchio","synonyms":["Blefarofimosi - telecanto - microstomia","Sindrome di Simosa"],"definition":"La sindrome che associa il viso appiattito, la microstomia e le anomalie dell'orecchio è una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da dismorfismi facciali che comprendono la fronte alta, l'allungamento e l'appiattimento della porzione media del viso, le sopracciglia arcuate e rade, le rime palpebrali corte, il telecanto, il naso allungato con narici ipoplastiche, il filtro lungo, il palato ogivale e stretto e la microstomia con angoli della bocca rivolti verso il basso. Di solito le orecchie sono malformate, grandi, a basso impianto e ruotate posteriormente. I pazienti hanno una voce nasale. Non sono stati descritti nuovi casi dopo il 1994."},"nl":{"name":"Plat gelaat - microstomie - ooranomalie-syndroom","synonyms":["Blefarofimose - telecanthus - microstomie-syndroom","Craniofaciaal syndroom van Simosa","Syndroom van Simosa-Penchaszadeh-Bustos"],"definition":"Plat gelaat - microstomie - ooranomalie-syndroom is een zeldzaam, genetisch meervoudige congenitale anomalieën/dysmorfie-syndroom dat gekarakteriseerd wordt door dysmorfe gelaatskenmerken, waaronder een hoog voorhoofd, lang en plat middengezicht, gebogen en schaarse wenkbrauwen, korte ooglidspleten, telecanthus, lange neus met hypoplastische neusgaten, lang filtrum, hoog en smal verhemelte, en microstomie met naar beneden gekeerde mondhoeken. De oren zijn typisch misvormd, groot, laagstaand en naar achter gedraaid, en nasale spraak is geassocieerd. Sinds 1994 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de face plana-microstomia-anomalia do pavilhão auricular","synonyms":["Blefarofimose-telecanto-microstomia","Síndrome Simosa-Penchaszadeh-Bustos"]},"pl":{"name":"Płaska twarz - mikrostomia - wady uszu","synonyms":["Zespół Simosa'a, Penchaszadeha i Bustosa","Zwężenie szpary powiekowej - telekantus - mikrostomia"],"definition":"*Płaska twarz - mikrostomia - wady uszu jest rzadkim, genetycznie uuwarunkowanym zespołem mnogich wad wrodzonych/zespołem dysmorficznym, który charakteryzuje się dysmorficznymi cechami twarzy: wysokim czołem, wydłużoną i spłaszczoną środkową częścią twarzy, łukowatymi i rzadkimi brwiami, krótkimi szparami powiekowymi, telekantusem, długim nosem z hipoplastycznymi nozdrzami, długą rynienką podnosową, wysokim i wąskim podniebieniem oraz mikrostomią ze skierowanymi ku dołowi kącikami ust. Uszy są charakterystycznie zniekształcone, duże, nisko osadzone i skierowane do tyłu; towarzyszy mowa nosowa. Od 1994 roku w literaturze nie było nowych opisów."},"cs":{"name":"Syndrom zahrnující plochý obličej, mikrostomii a anomálie ucha","synonyms":["Syndrom zahrnující blefarofimózu, telekantus a mikrostomii","Simosův-Penchaszadehův-Bustosové syndrom","Simosa-Penchaszadeh-Bustosové syndrom"]},"uk":{"name":"Синдром плаского обличчя-мікростомії-вушної аномалії","synonyms":["Синдром блефарофімозу-телекантрозу-мікростомії","Черепно-лицьовий синдром Симоса","Синдром Сімоса-Пенчасаде-Бустоса"],"definition":"Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994."},"zh":{"name":"扁平面-小口畸形-耳部异常综合征","synonyms":["睑裂狭小-内眦距过宽-小口畸形综合征"]},"tr":{"name":"Düz yüz-mikrostomi-kulak anomalisi sendromu","synonyms":["Simosa kraniyofasiyal sendrom","Simosa-Penchaszadeh-Bustos sendromu","Blefarofimozis-telekantus-mikrostomi sendromu"]}},"xrefs":[{"source":"OMIM","code":"182150","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008421","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537339","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1866962","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4873","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"2929657[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_2929657[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0009912","label":"Abnormal tragus morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009738","label":"Abnormality of the antihelix","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009896","label":"Abnormality of the antitragus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009906","label":"Aplasia/Hypoplasia of the earlobes","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010751","label":"Chin dimple","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002553","label":"Highly arched eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001611","label":"Hypernasal speech","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010669","label":"Hypoplasia of the zygomatic bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003189","label":"Long nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000046","label":"Small scrotum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011830","label":"Abnormal oral mucosa morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Occasional (29-5%)","criteria":null}]}}