{"orpha":1241,"name":"Bencze syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Hemifacial hyperplasia-strabismus syndrome"],"definition":"Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1241/","orphanet_url":"https://www.orpha.net/en/disease/detail/1241","names":{"fr":{"name":"Syndrome de Bencze","synonyms":["Syndrome d'hyperplasie hémifaciale-strabisme"],"definition":"Le syndrome de Bencze (ou l'hyperplasie hémifaciale avec strabisme) est un syndrome de malformation comportant une croissance anormale du squelette du visage ainsi que de ses tissus et organes mous. Ce syndrome est caractérisé par une asymétrie faciale légère n'affectant pas le neurocrâne et les globes oculaires, par une ésotropie, une amblyopie et/ou un strabisme convergent et, occasionnellement, par une fente palatine sous-muqueuse. Le mode de transmission est autosomique dominant. Aucun autre cas n'a été rapporté dans la littérature depuis 1979."},"de":{"name":"Bencze-Syndrom","synonyms":["Hemifaziale Hyperplasie mit Stratumbildung"],"definition":"Das Bencze-Syndrom oder Hemifaziale Hyperplasie mit Strabismus ist ein Fehlbildungs-Syndrom mit abnormem Wachstum des Gesichtsskeletts und seiner Weichteilstrukturen und Organe. Charakteristische Symptome sind: Leichte Gesichtsasymmetrie (Hirnschädel und Augäpfel sind nicht betroffen), Esotropie, Amblyopie und/oder Strabismus convergens und gelegentlich eine submuköse Gaumenspalte. Das Syndrom wird autosomal-dominant vererbt seit 1979 wurden keine weiteren Fälle beschrieben."},"es":{"name":"Síndrome de Bencze","synonyms":["Hiperplasia hemifacial-estratoísmo"],"definition":"El síndrome de Bencze o hiperplasia hemifacial con estrabismo es un síndrome malformativo que implica un crecimiento anormal del esqueleto facial, así como de la estructura del tejido blando y los huesos, y que se caracteriza por una asimetría facial leve con el neurocráneo y los globos oculares no afectados, así como por esotropía, ambliopía y/o estrabismo convergente y, en ocasiones, hendidura submucosa del paladar. La transmisión es autosómica dominante. No ha habido descripciones posteriores en la literatura desde 1979."},"it":{"name":"Sindrome di Bencze","synonyms":["Iperplasia emifacciale - strabismo"],"definition":"La sindrome di Bencze o iperplasia emifacciale con strabismo è una sindrome malformativa caratterizzata da un'anomalo sviluppo dello scheletro facciale, dei tessuti molli e dei relativi organi. È contraddistinta da lieve asimmetria facciale che risparmia il neurocranio e i bulbi oculari, con esotropia, ambliopia e/o strabismo convergente e, raramente, palatoschisi sottomucosa. La trasmissione è autosomica dominante. Gli ultimi casi pubblicati risalgono al 1979."},"nl":{"name":"Syndroom van Bencze","synonyms":["Hemifaciale hyperplasie - strabisme-syndroom"],"definition":"Benczesyndroom of hemifaciale hyperplasie met strabismus is een malformatiesyndroom met een abnormale groei van het faciale skelet en de faciale zachte weefselstructuur en organen en wordt gekenmerkt door een milde asymmetrie van het gelaat met een onaangetaste neurocranium en oogbollen, alsook door esotropie, amblyopie en/of convergente strabismus. Soms doet zich ook een submuceus gespleten gehemelte voor. De overerving gebeurt op autosomaal dominante wijze. Er zijn geen verdere beschrijvingen in de literatuur sinds 1979."},"pt":{"name":"Síndrome Bencze"},"pl":{"name":"Zespół Bencze","synonyms":["Przerost połowiczy twarzy - zez"]},"cs":{"name":"Benczeho syndrom","synonyms":["Syndrom zahrnující hemifaciální hyperplázii a strabismus"]},"uk":{"name":"Синдром Бенче","synonyms":["Синдром косоокості з гіперплазією лицевого нерва"],"definition":"Bencze syndrome or hemifacial hyperplasia with strabismus is a malformation syndrome involving the abnormal growth of the facial skeleton as well as its soft tissue structure and organs, and is characterized by mild facial asymmetry with unaffected neurocranium and eyeballs, as well as by esotropia, amblyopia and/or convergent strabismus, and occasionally submucous cleft palate. Transmission is autosomal dominant. There have been no further descriptions in the literature since 1979."},"zh":{"name":"Bencze综合征","synonyms":["半面过度增生-斜视综合征"]},"tr":{"name":"Bencze sendromu","synonyms":["Hemifasiyal hiperplazi-şaşılık sendromu"]}},"xrefs":[{"source":"OMIM","code":"141350","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q67.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007711","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564199","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1841640","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2633","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]},{"orpha":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"519901[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_519901[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0005325","label":"Extension of hair growth on temples to lateral eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000646","label":"Amblyopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010807","label":"Open bite","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000176","label":"Submucous cleft hard palate","frequency":"Occasional (29-5%)","criteria":null}]}}