{"orpha":1166,"name":"Congenital unilateral hypoplasia of depressor anguli oris","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated asymmetric crying facies"],"definition":"A rare, isolated, congenital, head and neck morphological anomaly characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. Although isolated in the majority of cases, newborns presenting with this morphological anomaly should be referred for further screening for 22q11.2 deletion syndrome and/or other coexisting cardiovascular, musculoskeletal, cervicofacial, respiratory, genitourinary and endocrine anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1166/","orphanet_url":"https://www.orpha.net/en/disease/detail/1166","names":{"fr":{"name":"Hypoplasie unilatérale congénitale du muscle abaisseur de l'angle de la bouche","synonyms":["Asymétrie faciale des pleurs isolée","Hypoplasie unilatérale congénitale du muscle triangulaire des lèvres"],"definition":"Anomalie congénitale rare caractérisée par l'hypoplasie/agenèse unilatérale du muscle abaisseur de l'angle de la bouche, à l'origine d'une asymétrie faciale lors des pleurs visibles en période néonatale/petite enfance (affaissement d'un coin de la bouche lors des pleurs) alors que la fermeture des paupières, le sillon nasogénien et les rides du front sont symétriques. Bien qu'elle puisse être isolée, cette anomalie s'observe dans le cadre du syndrome de délétion 22q11.2 et peut être accompagnée d'autres malformations congénitales majeures du système cardiovasculaire, et moins souvent, des systèmes musculo-squelettique, cervicofacial, respiratoire, génito-urinaire et, plus rarement, endocrinien. Dans sa forme isolée, la maladie est sans incidence sur le plan esthétique à mesure que le nourrisson grandit (le rôle du muscle dans l'expression du visage au cours de l'enfance et à l'âge adulte n'étant pas significatif)."},"de":{"name":"Kongenitale unilaterale Hypoplasie des M. depressor anguli oris","synonyms":["Isoliertes asymetrisches Schreigesicht"],"definition":"Die isolierte angeborene einseitige Hypoplasie des <i>M. depressor anguli oris</i> ist eine angeborene Kopf- und Halsfehlbildung, die durch eine einseitige Hypoplasie/Agenese des Muskels gekennzeichnet ist, der den Mundwinkel nach unten zieht. Dies führt zu einem asymmetrischen Schreigesicht in der Neugeborenenzeit/ Säuglingszeit (einseitig herabhängender Mundwinkel während des Weinens), während Augenschluss, Nasolabialfalte und Stirnfalte symmetrisch sind. Obwohl diese morphologische Anomalie in den meisten Fällen isoliert auftritt, sollten Neugeborene mit dieser Anomalie zur weiteren Abklärung des 22q11.2-Deletionssyndroms und/oder anderer begleitender kardiovaskulärer, muskuloskelettaler, zervikofazialer, respiratorischer, urogenitaler und endokriner Anomalien vorgestellt werden."},"es":{"name":"Hipoplasia unilateral congénita del músculo depresor del ángulo de la boca","synonyms":["Facies aislada asimétrica de aspecto lloroso"],"definition":"Es una anomalía aislada, congénita, de la morfología del cuello y la cabeza caracterizada por hipoplasia/agenesia unilateral del músculo depresor del ángulo de la boca, que resulta en facies asimétrica al llanto en el periodo neonatal/de lactancia (caída de la comisura labial del lado afecto durante el llanto), mientras que el cierre del ojo, el pliegue nasolabial y el plegamiento de la frente son simétricos. Aunque se da de forma aislada en la mayoría de los casos, los neonatos que presenten esta anomalía deben ser estudiados para descartar un síndrome de deleción 22q11.2 y otras anomalías congénitas del sistema cardiovascular, musculoesqueléticas, cervicofaciales, respiratorias, genitourinarias y del sistema endocrino."},"it":{"name":"Ipoplasia unilaterale congenita del muscolo depressore dell'angolo della bocca","synonyms":["Faccia asimmetrica durante il pianto, forma isolata"],"definition":"L'ipoplasia monolaterale congenita del muscolo depressore dell'angolo della bocca è un'anomalia congenita, caratterizzata dall'ipoplasia/agenesia del muscolo depressore dell'angolo della bocca, che, nel periodo neonatale/infantile, causa l'asimmetria della faccia al momento del pianto (un angolo della bocca appare cadente durante il pianto), mentre quando vengono chiusi gli occhi, la plica naso-labiale e il corrugamento della fronte sono simmetrici. Sebbene il difetto possa essere isolato, si può anche associare alla sindrome da delezione 22q11.2 (si veda questo termine) e ad altri difetti congeniti gravi dell'apparato cardiovascolare e, meno di frequente, del sistema muscolo scheletrico, carvico-facciale, respiratorio, genito-urinario e, raramente, endocrino. Se il difetto è isolato, non crea particolari problemi estetici man mano che il paziente cresce (il muscolo non contribuisce in modo significativo all'espressione facciale durante l'infanzia e l'età adulta)."},"nl":{"name":"Congenitale unilaterale hypoplasie van depressor anguli oris","synonyms":["Geïsoleerd asymmetrisch 'crying facies'"],"definition":"Een zeldzame, geïsoleerde, congenitale morfologische anomalie van hoofd en hals, gekenmerkt door unilaterale hypoplasie/agenesie van musculus depressor anguli oris (driehoekige kinspier), wat leidt tot een asymmetrisch huilend gelaat in de neonatale periode/zuigelingentijd (één afhangende mondhoek tijdens het huilen), terwijl oogsluiting, nasolabiale plooi en rimpeling van voorhoofd symmetrisch zijn. Hoewel het in de meerderheid van de gevallen geïsoleerd optreedt, dienen neonaten met deze morfologische anomalie doorverwezen te worden voor verdere screening voor 22q11.2-deletiesyndroom en/of andere co-existente cardiovasculaire, musculoskeletale, cervicofaciale, respiratoire, urogenitale en endocriene anomalieën."},"pt":{"name":"Hipoplasia do músculo depressor do ângulo da boca unilateral congénita","synonyms":["Assimetria facial com o choro"]},"pl":{"name":"Wrodzona jednostronna hipoplazja obniżacza kąta ust","synonyms":["Izolowana asymetryczna płacząca twarz"]},"cs":{"name":"Vrozená unilaterální hypoplázie depresoru anguli oris","synonyms":["Izolovaná asymetrie tváře"]},"uk":{"name":"Вроджена однобічна гіпоплазія депресора кута роту","synonyms":["Ізольоване асиметричне обличчя плачу"],"definition":"A rare, isolated, congenital, head and neck morphological anomaly characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. Although isolated in the majority of cases, newborns presenting with this morphological anomaly should be referred for further screening for 22q11.2 deletion syndrome and/or other coexisting cardiovascular, musculoskeletal, cervicofacial, respiratory, genitourinary and endocrine anomalies."},"zh":{"name":"先天性单侧降口角肌发育不良","synonyms":["孤立型非对称性哭脸"]},"tr":{"name":"Depresör anguli oris doğumsal unilateral hipoplazisi","synonyms":["İzole asimetrik ağlayan yüz"]}},"xrefs":[{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007443","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535349","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0431406","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":155832,"name":"Rare head and neck malformation","classifications":[147]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000178","label":"Abnormality of lower lip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011333","label":"Asymmetric crying face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005562","label":"Multiple renal cysts","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009804","label":"Tooth agenesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001679","label":"Abnormal aortic morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003272","label":"Abnormality of the hip bone","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004414","label":"Abnormality of the pulmonary artery","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002086","label":"Abnormality of the respiratory system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003422","label":"Vertebral segmentation defect","frequency":"Occasional (29-5%)","criteria":null}]}}