{"orpha":141148,"name":"Hemifacial myohyperplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Hemifacial myohyperplasia is a rare developmental defect during embryogenesis characterized by unilateral hyperplasia of the facial musculature with no evidence of hyperplasia of bone or other organ systems. It clinically present with dimpling of the skin, ptosis, enophthalmos, narrow palpebral fissure, auricular displacement, smaller nasal vestibule, and nasal and chin deviation on the affected side. Facial paresis of the affected side and mild ipsilateral hypoplasia of the facial skeleton might be present.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-141148/","orphanet_url":"https://www.orpha.net/en/disease/detail/141148","names":{"fr":{"name":"Myohyperplasie hémifaciale","definition":"Anomalie rare du développement embryonnaire caractérisée par une hyperplasie unilatérale des muscles faciaux sans aucun signe d'hyperplasie des os ou d'autres systèmes organiques. Sur le plan clinique, elle se manifeste par des fossettes cutanées, un ptosis, une énophtalmie, des fentes palpébrales étroites, un déplacement du pavillon de l'oreille, une déviation de la cloison nasale et une déviation du nez et du menton du côté atteint. Une parésie faciale du côté atteint et une légère hypoplasie ipsilatérale du massif facial osseux peuvent être présentes."},"de":{"name":"Myohyperplasie, hemifaziale"},"es":{"name":"Miohiperplasia hemifacial","definition":"La miohiperplasia hemifacial es un defecto del desarrollo embrionario poco frecuente caracterizado por hiperplasia unilateral de la musculatura facial sin evidencia de hiperplasia en los sistemas óseos u otros sistemas orgánicos. Se presenta clínicamente con hoyuelos en la piel, ptosis, enoftalmos, fisura palpebral estrecha, desplazamiento auricular, vestíbulo nasal reducido y desviación nasal y del mentón en el lado afectado. También puede haber paresia facial en el lado afectado e hipoplasia ipsilateral leve del esqueleto facial."},"it":{"name":"Mioiperplasia emifacciale","definition":"La mioiperplasia emifacciale è un difetto raro dello sviluppo dell'embrione, caratterizzato da iperplasia monolaterale della muscolatura del viso, in assenza di iperplasia ossea o di altri organi. Dal punto di vista clinico, esordisce con un affossamento della cute, ptosi, enoftalmo, rime palpebrali strette, dislocazione delle orecchie, ridotte dimensioni del vestibolo nasale e deviazione del naso e del mento nel lato interessato. Possono associarsi la paresi facciale del lato colpito e una lieve ipoplasia monolaterale delle ossa facciali."},"nl":{"name":"Hemifaciale myohyperplasie","definition":"Hemifaciale myohyperplasie is een zeldzaam ontwikkelingsdefect tijdens de embryogenese dat gekarakteriseerd wordt door unilaterale hyperplasie van de gelaatsspieren, zonder bewijs van hyperplasie van botten of andere orgaansystemen. Het manifesteert zich klinisch met vorming van kuiltjes op de huid, ptose, enoftalmie, smalle ooglidspleten, verplaatsing van de oren, kleinere nasale vestibule, en afwijking van de neus en de kin aan de getroffen zijde. Faciale parese van de getroffen zijde en milde ipsilaterale hypoplasie van de faciale beenderen kan aanwezig zijn."},"pt":{"name":"Mio-hiperplasia hemifacial"},"pl":{"name":"Połowiczy przerost mięśni twarzy","definition":"*Połowiczy przerost mięśni twarzy jest rzadką wadą rozwojową powstałą podczas embriogenezy, która charakteryzuje się jednostronnym przerostem mięśni twarzy, bez przerostu kości oraz innych narządów. Klinicznie objawia się wgłębieniami na skórze, opadaniem powiek, zapadnięciem gałki ocznej w oczodole, wąską szparą powiekową, przemieszczeniem małżowiny usznej, zmniejszonym przedsionkiem nosa oraz skrzywieniem/odchyleniem nosa i brody po stronie dotkniętej chorobą. Może wystąpić niedowład twarzy i łagodny niedorozwój kości twarzy po chorej stronie."},"cs":{"name":"Hemifaciální myohyperplázie"},"uk":{"name":"Геміфаціальна міогіперплазія","definition":"Hemifacial myohyperplasia is a rare developmental defect during embryogenesis characterized by unilateral hyperplasia of the facial musculature with no evidence of hyperplasia of bone or other organ systems. It clinically present with dimpling of the skin, ptosis, enophthalmos, narrow palpebral fissure, auricular displacement, smaller nasal vestibule, and nasal and chin deviation on the affected side. Facial paresis of the affected side and mild ipsilateral hypoplasia of the facial skeleton might be present."},"zh":{"name":"半侧颜面肌肉增生","definition":"半侧面肌增生是一种罕见的胚胎发育缺陷，其特征是单侧面部肌肉组织增生，无骨或其他器官系统增生迹象。临床表现为皮肤凹陷、上睑下垂、眼球内陷、睑裂狭窄、耳移位、鼻前庭变小、患侧鼻及颏偏斜。患侧面神经轻瘫，且可能表现为同侧面部骨骼轻度发育不良。"},"tr":{"name":"Hemifasiyal miyohiperplazi"}},"xrefs":[{"source":"OMIM","code":"606773","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q67.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA52","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1338941880"},{"source":"MONDO","code":"0011723","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535862","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1847521","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10084","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":156207,"name":"Macroglossia","classifications":[147,156,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":12.0,"area":"Worldwide","status":"Validated","source":"20583183[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20583183[PMID]"}],"phenotypes":null}