{"orpha":137888,"name":"Auriculocondylar syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Question mark ear syndrome"],"definition":"A rare, genetic dysostosis with predominant craniofacial involvement characterized by bilateral external ear malformations, mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, full cheeks, developmental delay, hearing impairment and respiratory distress. Significant intra- and interfamilial phenotypic variation has been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-137888/","orphanet_url":"https://www.orpha.net/en/disease/detail/137888","names":{"fr":{"name":"Syndrome auriculo-condylaire","synonyms":["Syndrome des oreilles en forme de point d'interrogation"],"definition":"Le syndrome auriculo-condylaire (SAC) est caractérisé par des malformations bilatérales de l'oreille externe (oreilles en forme de point d'interrogation), une hypoplasie du condyle mandibulaire, une microstomie, une micrognathie, une microglossie et une asymétrie faciale. Les autres manifestations sont une hypotonie, un ptosis, une fente palatine, des joues bouffies, un retard de développement, une surdité et une détresse respiratoire."},"de":{"name":"Aurikulo-kondyläres Syndrom","synonyms":["Fragezeichenohr-Syndrom"],"definition":"Eine seltene genetisch bedingte Dysostose mit vorherrschender kraniofazialer Beteiligung, die durch beidseitige Fehlbildungen der Ohrmuscheln, Hypoplasie der Unterkieferkondylen, Mikrostomie, Mikrognathie, Mikroglossie und Gesichtsasymmetrie gekennzeichnet ist. Weitere Erscheinungsformen sind Hypotonie, Ptosis, Gaumenspalte, volle Wangen, Entwicklungsverzögerung, Hörstörungen und Atemnot. Es wurde über erhebliche intra- und interfamiliäre phänotypische Variationen berichtet."},"es":{"name":"Síndrome aurículo-condilar","synonyms":["Síndrome de la oreja en punto de interrogación","Síndrome de orejas en signo de interrogación"],"definition":"Es una disostosis genética poco frecuente con afectación craneofacial predominante que se caracteriza por malformaciones bilaterales del oído externo, hipoplasia del cóndilo mandibular, microstomía, micrognatia, microglosia y asimetría facial. Otras manifestaciones adicionales incluyen hipotonía, ptosis, paladar hendido, mejillas llenas, retraso psicomotor, discapacidad auditiva y dificultad respiratoria. Se ha informado de una variación fenotípica intra- e interfamiliar significativa."},"it":{"name":"Sindrome auricolo-condilare","synonyms":["Sindrome delle orecchie a forma di punto interrogativo"]},"nl":{"name":"Auriculocondylair syndroom","synonyms":["\"Vraagtekenoor\"-syndroom"],"definition":"Een zeldzame, genetische dysostose met voornamelijk craniofaciale betrokkenheid, gekarakteriseerd door bilaterale malformaties van uitwendig oor, hypoplasie van gewrichtskop van kaakgewricht, microstomie, micrognathie, microglossie, en asymmetrie van aangezicht. Bijkomende manifestaties zijn onder meer hypotonie, ptose, gespleten verhemelte, volle wangen, ontwikkelingsachterstand, slechthorendheid, en ademnood. Er werd reeds significante inter- en intrafamiliale fenotypische variatie gerapporteerd."},"pt":{"name":"Síndrome Auriculo-condilar","definition":"O síndrome aurículo-condilar (ACS) apresenta-se com malformações bilaterais da orelha (\"orelhas em forma de ponto de interrogação\"), hipoplasia do côndilo mandibular, microstomia, micrognatia, microglossia e assimetria facial. As manifestações adicionais incluem hipotonia, ptose, fenda do palato, bochechas proeminentes, atraso do desenvolvimento, diminuição da audição e dificuldades respiratórias."},"pl":{"name":"Zespół uszno-kłykciowy","synonyms":["Question mark ear syndrome"]},"cs":{"name":"Aurikulokondylární syndrom","synonyms":["Syndrom malformace ucha ve tvaru otazníku"]},"uk":{"name":"Аурикулокондилярний синдром","synonyms":["Синдром вуха у вигляді знака питання"],"definition":"A rare, genetic dysostosis with predominant craniofacial involvement characterized by bilateral external ear malformations, mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, full cheeks, developmental delay, hearing impairment and respiratory distress. Significant intra- and interfamilial phenotypic variation has been reported."},"zh":{"name":"耳-髁突综合征","synonyms":["问号耳综合征"],"definition":"一种罕见疾病，表现为双侧外耳畸形（“问号”耳），下颌骨髁状突发育不全，小口，小颌，小舌和面部不对称。其他表现包括肌张力低下、上睑下垂、腭裂、面颊浮肿、发育迟缓、听力受损和呼吸窘迫。"},"tr":{"name":"Aurikulokondiler sendrom","synonyms":["Soru işareti kulak sendromu"]}},"xrefs":[{"source":"OMIM","code":"602483","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612798","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614669","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615706","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q75.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.16","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1545895796"},{"source":"MONDO","code":"0000107","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538270","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1865295","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9798","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":139036,"name":"Branchial arch or oral-acral syndrome","classifications":[147]},{"orpha":183576,"name":"Genetic branchial arch or oral-acral syndrome","classifications":[156]},{"orpha":155896,"name":"Otomandibular dysplasia","classifications":[147,156,199,200,209]}],"children":[],"genes":[{"symbol":"EDN1","name":"endothelin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24268655[PMID]","hgnc":"3176","ensembl":"ENSG00000078401","omim":"131240","loci":["6p24.1"]},{"symbol":"GNAI3","name":"G protein subunit alpha i3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22560091[PMID]","hgnc":"4387","ensembl":"ENSG00000065135","omim":"139370","loci":["1p13.3"]},{"symbol":"PLCB4","name":"phospholipase C beta 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22560091[PMID]","hgnc":"9059","ensembl":"ENSG00000101333","omim":"600810","loci":["20p12.3-p12.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":50.0,"area":"Worldwide","status":"Validated","source":"22560091[PMID]_23315542[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-11-19","source":"20733479[PMID]_23315542[PMID]_16114046[PMID]_23315542[PMID]_16114046[PMID]","terms":[{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009902","label":"Cleft helix","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007628","label":"Mandibular condyle hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009895","label":"Abnormality of the crus of the helix","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010754","label":"Abnormality of the temporomandibular joint","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008772","label":"Aplasia/Hypoplasia of the external ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000193","label":"Bifid uvula","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000678","label":"Dental crowding","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000689","label":"Dental malocclusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000162","label":"Glossoptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002870","label":"Obstructive sleep apnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100277","label":"Periauricular skin pits","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030022","label":"Question mark ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025267","label":"Snoring","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000183","label":"Tongue muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011802","label":"Hamartoma of tongue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007627","label":"Mandibular condyle aplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000171","label":"Microglossia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030713","label":"Vein of Galen aneurysmal malformation","frequency":"Very rare (<4-1%)","criteria":null}]}}