{"orpha":2213,"name":"Hypertelorism-microtia-facial clefting syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Bixler-Christian-Gorlin syndrome","HMC syndrome"],"definition":"Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2213/","orphanet_url":"https://www.orpha.net/en/disease/detail/2213","names":{"fr":{"name":"Syndrome d'hypertélorisme-microtie-fente faciale","synonyms":["Syndrome HMC","Syndrome de Bixler-Christian-Gorlin"],"definition":"Le syndrome Hypertélorisme-microtie-fente faciale, ou syndrome HMC, est un syndrome très rare associant un hypertélorisme, une microtie et une fente labiopalatine."},"de":{"name":"Hypertelorismus - Mikrotie - Gesichtsspalten","synonyms":["Bixler-Christian-Gorlin-Syndrom","HMC-Syndrom"],"definition":"Das Hypertelorismus-Mikrotie-Gesichtsspalten-Syndrom oder HMC-Syndrom ist sehr selten und gekennzeichnet durch die Kombination von Hypertelorismus, Lippen-Kiefer-Gaumenspalte und Mikrotie."},"es":{"name":"Síndrome hipertelorismo-microtia-hendidura facial","definition":"El síndrome hipertelorismo - microtia - hendidura facial, o síndrome HMC, es un síndrome muy raro caracterizado por la combinación de hipertelorismo, fisura labiopalatina y microtia."},"it":{"name":"Ipertelorismo - microtia - schisi facciale","synonyms":["Sindrome HMC","Sindrome di Bixler-Christian-Gorlin"]},"nl":{"name":"Hypertelorisme - microtie - aangezichtsspleet-syndroom","synonyms":["HMC-syndroom","Syndroom van Bixler-Christian-Gorlin"],"definition":"Een zeer zeldzaam syndroom, gekenmerkt door de combinatie van hypertelorisme, gespleten lip en gehemelte, en microtie."},"pt":{"name":"Síndrome de hipertelorismo-micrótia-fenda facial","synonyms":["Síndrome Bixler-Christian-Gorlin","Síndrome HMC"],"definition":"A síndrome hipertelorismo-microtia-fenda facial, ou síndrome HMC, é uma síndrome muito rara caracterizada pela combinação de hipertelorismo, fenda do lábio e do palato e microtia."},"pl":{"name":"Zespół hiperteloryzm -małe uszy-rozszczep twarzy","synonyms":["Zespół Bixlera, Christiana i Gorlina","Zespół HMC"]},"cs":{"name":"Syndrom zahrnující hypertelorismus, mikrocii a faciální rozštěp","synonyms":["HMC syndrom","Bixlerův-Christianův-Gorlinův syndrom","Bixler-Christian-Gorlinův syndrom"]},"uk":{"name":"Синдром гіпертелоризму-мікротії-розщеплення обличчя","synonyms":["Синдром Бікслера-Крістіана-Горліна","Синдром HMC"],"definition":"Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia."},"zh":{"name":"器官间距过远-小耳症-面部裂综合征","synonyms":["Bixler-Christian-Gorlin综合征"]},"tr":{"name":"Hipertelorizm-mikrotia-yüz yarığı sendromu","synonyms":["HMC sendromu","Bixler-Christian-Gorlin sendromu"]}},"xrefs":[{"source":"OMIM","code":"239800","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009404","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537632","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0220742","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"897","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":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"11152141[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_11152141[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-07-27","source":null,"terms":[{"hpo":"HP:0000413","label":"Atresia of the external auditory canal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009099","label":"Median cleft palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004736","label":"Crossed fused renal ectopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000085","label":"Horseshoe kidney","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003393","label":"Thenar muscle atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000456","label":"Bifid nasal tip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011803","label":"Bifid nose","frequency":"Occasional (29-5%)","criteria":null}]}}