{"orpha":3038,"name":"Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Mehes syndrome"],"definition":"This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3038/","orphanet_url":"https://www.orpha.net/en/disease/detail/3038","names":{"fr":{"name":"Syndrome de retard de langage-asymétrie faciale-strabisme-incisure du lobe de l'oreille","synonyms":["Syndrome de Mehes"],"definition":"Ce syndrome associe un retard de langage, une asymétrie faciale, un strabisme et des sillons du lobe de l'oreille."},"de":{"name":"Verzögerte Sprachentwicklung-Gesichtsasymmetrie-Strabismus-Ohrmuscheldefekte-Syndrom","synonyms":["Mehes-Syndrom"],"definition":"Dieses extrem seltene Syndrom ist gekennzeichnet durch verzögerte Sprachentwicklung, leichte Gesichtsasymmetrie, Strabismus und transverse Furchen der Ohrläppchen."},"es":{"name":"Síndrome de retraso del habla-asimetría facial-estrabismo-incisura de lóbulo auditivo","definition":"Es un síndrome extremadamente infrecuente caracterizado por retraso del desarrollo del habla, asimetría facial leve, estrabismo e incisura transversal de lóbulo auditivo."},"it":{"name":"Linguaggio ritardato - asimmetria facciale - strabismo - pieghe sul lobo dell'orecchio","synonyms":["Sindrome di Mehes"]},"nl":{"name":"Spraakachterstand - faciale asymmetrie - strabisme - oorlelplooien-syndroom","synonyms":["Syndroom van Mehes"],"definition":"Een uiterst zeldzaam syndroom, gekenmerkt door vertraagde ontwikkeling van spraak, milde asymmetrie van aangezicht, strabisme, en transversale huidplooien van oorlel."},"pt":{"name":"Síndrome de atraso da linguagem-assimetria facial-estrabismo-sulcos no lóbulo auricular","synonyms":["Síndrome Mehes"],"definition":"Esta síndrome é extremamente rara e é caracterizada pelo desenvolvimento tardio da fala, ligeira assimetria facial, estrabismo e vincos transversais do lóbulo da orelha."},"pl":{"name":"Opóźnienie mowy -asymetria twarzy - zez - zmarszczki płatka ucha","synonyms":["Zespół Mehesa"]},"cs":{"name":"Syndrom zahrnující opoždění řeči, faciální asymetrii, strabismus a rýhy ušního lalůčku","synonyms":["Mehesův syndrom"]},"uk":{"name":"Синдром затримки мовлення-асиметрії обличчя-косоокості-складок мочок вух","synonyms":["Синдром Мехеса"],"definition":"This syndrome is extremely rare and is characterized by delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases."},"zh":{"name":"言语迟缓-面部不对称-斜视-耳垂褶综合征","synonyms":["Mehes综合征"]},"tr":{"name":"Gecikmiş konuşma-yüz asimetrisi-şaşılık-kulak lobu kırışıklıkları sendromu","synonyms":["Mehes sendromu"]}},"xrefs":[{"source":"OMIM","code":"182875","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008445","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536146","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931119","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3449","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":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"16055361[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16055361[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0009908","label":"Anterior creases of earlobe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000577","label":"Exotropia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007946","label":"Unilateral narrow palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null}]}}