{"orpha":83619,"name":"Macrostomia-preauricular tags-external ophthalmoplegia syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare developmental defect during embryogenesis characterized by macrostomia or abnormal mouth contour, preauricular tags or pits, and uni- or bilateral ptosis due to external ophthalmoplegia. This syndrome belongs to the oculoauriculovertebral spectrum, a developmental disorder affecting the structures derived from the first and second branchial arches.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-83619/","orphanet_url":"https://www.orpha.net/en/disease/detail/83619","names":{"fr":{"name":"Syndrome de macrostomie-anomalies préauriculaires-ophtalmoplégie externe","definition":"Anomalie rare du développement embryonnaire caractérisée par une macrostomie ou des anomalies du contour buccal, des appendices ou des sinus pré-auriculaires, et un ptosis uni- ou bilatéral dû à une ophtalmoplégie externe. Le syndrome appartient au spectre oculo-auriculo-vertébral, un trouble du développement affectant les structures dérivées des premier et deuxième arcs branchiaux."},"de":{"name":"Makrostomie-präaurikuläre Anhängsel-externe Ophthalmoplegie-Syndrom","definition":"Eine seltene Entwicklungsstörung während der Embryogenese, gekennzeichnet durch Makrostomie oder abnorme Mundkontur, präaurikuläre Nägel oder Grübchen und ein- oder beidseitige Ptose aufgrund externer Ophthalmoplegie. Dieses Syndrom gehört zum okuloaurikulovertebralen Spektrum, einer Entwicklungsstörung, die die vom ersten und zweiten Astialbogen abgeleiteten Strukturen betrifft."},"es":{"name":"Síndrome de macrostomia-apéndices preauriculares-oftalmoplejía externa","definition":"Es un trastorno poco frecuente del desarrollo durante la embriogénesis caracterizado por macrostomía o anomalías del contorno de la boca, apéndices o depresiones puntiformes preauriculares y ptosis uni- o bilateral debido a oftalmoplejía externa. Este síndrome pertenece al espectro óculo-aurículo-vertebral, un trastorno del desarrollo que afecta las estructuras derivadas del primer y segundo arco branquial."},"it":{"name":"Sindrome macrostomia-appendici preauricolari-oftalmoplegia esterna","definition":"Si tratta di un difetto raro dello sviluppo dell'embrione, caratterizzato da macrostomia o anomalie del contorno della bocca, appendici o fossette preauricolari, e ptosi mono- o bilaterale secondaria all'oftalmoplegia esterna. Questa malattia rientra nello spettro oculo-auricolo-vertebrale, una malattia dello sviluppo che interessa le strutture derivate dal primo e dal secondo arco branchiale."},"nl":{"name":"Macrostomie - preauriculaire aanhangsels - externe oftalmoplegie-syndroom","definition":"Een zeldzaam ontwikkelingsdefect tijdens embryogenese, gekarakteriseerd door macrostomie of abnormale contour van mond, pre-auriculaire aanhangsels of kuiltjes, en uni- of bilaterale ptose door externe oftalmoplegie. Dit syndroom behoort tot het oculoauriculovertebraal spectrum, een ontwikkelingsstoornis die structuren afgeleid van eerste en tweede kieuwboog aantast."},"pt":{"name":"Macrostomia - apêndices pré-auriculares - oftalmoplegia externa"},"pl":{"name":"Makrostomia - przeduszne naddatki skórne - oftalmoplegia zewnętrzna"},"cs":{"name":"Syndrom zahrnující makrostomii, preaurikulární výběžky a zevní oftalmoplegii"},"uk":{"name":"Синдром макростомії-преаурикулярних міток-зовнішньої офтальмоплегії","definition":"A rare developmental defect during embryogenesis characterized by macrostomia or abnormal mouth contour, preauricular tags or pits, and uni- or bilateral ptosis due to external ophthalmoplegia. This syndrome belongs to the oculoauriculovertebral spectrum, a developmental disorder affecting the structures derived from the first and second branchial arches."},"zh":{"name":"巨口畸形-耳前赘-眼外肌麻痹综合征"},"tr":{"name":"Makrostomi-preauriküler etiketler-eksternal oftalmopleji sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019387","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4509840","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":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"16854200[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16854200[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0011338","label":"Abnormality of mouth shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000602","label":"Ophthalmoplegia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004467","label":"Preauricular pit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011272","label":"Underdeveloped tragus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Occasional (29-5%)","criteria":null}]}}