{"orpha":141145,"name":"Hemifacial hyperplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Hemifacial hypertrophy"],"definition":"Hemifacial hyperplasia is a rare morphological anomaly of the maxillofacial region characterized by unilateral overgrowth of all facial structures (bone, soft tissues, teeth), called true hemifacial hypertrophy, or overgrowth of one or more but not all facial structures, called partial hemifacial hypertrophy. It may be isolated or related to some syndromes (e.g. Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright syndrome, Neurofibromatosis type 1). It may be associated with airway obstruction, sensorineural hearing loss or swallowing difficulties.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-141145/","orphanet_url":"https://www.orpha.net/en/disease/detail/141145","names":{"fr":{"name":"Hyperplasie hémifaciale","synonyms":["Hypertrophie hémifaciale"],"definition":"Anomalie morphologique rare de la région maxillo-faciale caractérisée par une croissance excessive unilatérale de toutes les structures faciales (os, tissus mous, dents), appelée hypertrophie hémifaciale vraie, ou par une croissance excessive d'une ou de plusieurs structures faciales, mais pas toutes, appelée hypertrophie hémifaciale partielle. L'anomalie peut être isolée ou liée à certains syndromes (Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright, neurofibromatose type 1). Elle peut être associée à une obstruction des voies respiratoires, à une surdité de perception ou à des difficultés de déglutition."},"de":{"name":"Hyperplasie, hemifaziale","synonyms":["Hypertrophie, hemifaziale"],"definition":"Die hemifaziale Hyperplasie ist eine seltene morphologische Anomalie der maxillofazialen Region, die durch ein einseitiges Überwachsen aller fazialen Strukturen (Knochen, Weichteile, Zähne) gekennzeichnet ist (sog. echte hemifaziale Hypertrophie), oder durch ein Überwachsen einer oder mehrerer, aber nicht aller fazialen Strukturen (definiert als partielle hemifaziale Hypertrophie). Sie kann isoliert auftreten oder mit einigen Syndromen verbunden sein (z. B. Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright-Syndrom, Neurofibromatose Typ 1). Sie kann mit Atemwegsobstruktion, sensorineuraler Schwerhörigkeit oder Schluckbeschwerden einhergehen."},"es":{"name":"Hiperplasia hemifacial","synonyms":["Hipertrofia hemifacial"],"definition":"Es una anomalía morfológica poco frecuente de la región maxilofacial caracterizada por hipercrecimiento unilateral de todas las estructuras faciales (hueso, tejidos blandos, dientes), denominada hipertrofia hemifacial verdadera, o por un hipercrecimiento de una o más, pero no de todas las estructuras faciales, denominada hipertrofia hemifacial parcial. Puede presentarse de forma aislada o relacionada con otros síndromes (p. ej., Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright, neurofibromatosis tipo 1). Puede estar asociado a obstrucción de las vías respiratorias, pérdida auditiva neurosensorial o dificultades para tragar."},"it":{"name":"Iperplasia emifacciale","definition":"L'iperplasia emifacciale è un'anomalia morfologica rara della regione maxillofacciale, caratterizzata da iperaccrescimento monolaterale di tutte le strutture del viso (ossa, tessuti molli, denti), definita ipertrofia emifacciale vera, oppure da iperaccrescimento di una o più strutture del viso (non tutte), definito ipertrofia emifacciale parziale. Può essere isolata o associarsi con alcune sindromi (Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright, Neurofibromatosi tipo 1). Può comportare un'ostruzione delle vie aeree, sordità neurosensoriale o difficoltà alla deglutizione."},"nl":{"name":"Hemifaciale hyperplasie","synonyms":["Hemifaciale hypertrofie"],"definition":"Hemifaciale hyperplasie is een zeldzame morfologische anomalie van de maxillofaciale regio, en wordt gekarakteriseerd door unilaterale overgroei van alle structuren van het gelaat (bot, weke delen, tanden), genaamd echte hemifaciale hypertrofie, of overgroei van een of meerdere maar niet alle structuren van het gelaat, genaamd partiële hemifaciale hypertrofie. Het kan geïsoleerd voorkomen of gerelateerd zijn aan enkele syndromen (e.g. syndroom van Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright, en neurofibromatose type 1). Het kan geassocieerd zijn met obstructie van de luchtwegen, sensorineuraal gehoorverlies of moeilijkheden met slikken."},"pt":{"name":"Hipertrofia hemifacial"},"pl":{"name":"Połowiczy przerost twarzy","synonyms":["Hemifacial hypertrophy"]},"cs":{"name":"Hemifaciální hypertrofie","synonyms":["Hemifacial hypertrophy"]},"uk":{"name":"Геміфаціальна гіперплазія","synonyms":["Гіпертрофія лицьового нерва"],"definition":"Hemifacial hyperplasia is a rare morphological anomaly of the maxillofacial region characterized by unilateral overgrowth of all facial structures (bone, soft tissues, teeth), called true hemifacial hypertrophy, or overgrowth of one or more but not all facial structures, called partial hemifacial hypertrophy. It may be isolated or related to some syndromes (e.g. Beckwith-Wiedemann, Proteus, Klippel-Trenaunay-Weber, McCune-Albright syndrome, Neurofibromatosis type 1). It may be associated with airway obstruction, sensorineural hearing loss or swallowing difficulties."},"zh":{"name":"半侧颜面增生","synonyms":["半侧颜面肥大"],"definition":"半侧面增生是一种罕见颌面部形态异常，其特征是所有面部结构（骨、软组织、牙齿）单侧过度生长，称为真性半面过度生长，或一个或多个但不是所有面部结构过度生长，称为部分半面过度生长。该病可能为孤立性，也可能与某些综合征相关（如Beckwith-Wiedemann，Proteus，Klippel-Trenaunay-Weber，McCune-Albright综合征，神经纤维瘤病1型）。可能与气道阻塞、感音神经性听力丧失或吞咽困难相关。"},"tr":{"name":"Hemifasiyal hiperplazi","synonyms":["Hemifasiyal hipertrofi"]}},"xrefs":[{"source":"OMIM","code":"133900","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q67.4","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LA52","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2090544963"},{"source":"MONDO","code":"0007590","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1399354","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":["Not applicable"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.16,"area":"United States","status":"Validated","source":"ISBN-10:0867153903[OTHER]_28163490[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.16,"area":"United States","status":"Validated","source":"ISBN-10:0867153903[OTHER]_28163490[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-10-01","source":"16700954[PMID]_28839423[PMID]_32622511[PMID]_27843653[PMID]","terms":[{"hpo":"HP:0005323","label":"Hemifacial hypertrophy","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000689","label":"Dental malocclusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004411","label":"Deviated nasal septum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100875","label":"Hemimacroglossia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001572","label":"Macrodontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006536","label":"Airway obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005216","label":"Impaired mastication","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040264","label":"Jaw pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010807","label":"Open bite","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009900","label":"Unilateral deafness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025797","label":"Unilateral sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null}]}}