{"orpha":2749,"name":"Oromandibular-limb hypogenesis syndrome","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["Oroacral syndrome"],"definition":"Oromandibular-limb hypogenesis syndromes (OLHS) are a group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) characterized by the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2749/","orphanet_url":"https://www.orpha.net/en/disease/detail/2749","names":{"fr":{"name":"Syndrome oromandibulaire-réduction des membres","synonyms":["Syndrome oro-acral"],"definition":"Les syndromes oromandibulaire-réduction des membres constituent un groupe de syndromes dysmorphiques (comprenant le syndrome de Charlie M, le syndrome de Hanhart et l'ankylose glossopalatine) caractérisés par l'association de malformations sévères et asymétriques des membres (portant principalement sur les segments distaux) avec des anomalies de la cavité buccale et du maxillaire inférieur (hypoglossie, aglossie, micrognathie, ankylose glossopalatine, fente palatine, et anomalies gingivales)."},"de":{"name":"Syndrom mit oro-mandibulärer und Gliedmaßen-Hypogenesis","synonyms":["Oro-akrales Syndrom"],"definition":"Die Syndrome mit oro-mandibulärer und Gliedmaßen-Hypogenesis sind eine Gruppe von Dysmorphie-Komplexen, zu denen das Charlie-M-Syndrom, das Hanhart-Syndrom und die Glosso-palatine Ankylose gehören. Sie sind gekennzeichnet durch schwere, asymmetrische, primär distale Gliedmaßendefekte und Anomalien der Mundhöhle und des Unterkiefers (Hypoglossie, Aglossie, Mikrogenie, glosso-palatine Ankylose, Gaumenspalte und Veränderungen der Gingiva)."},"es":{"name":"Síndrome de hipogenesia oromandibular y de extremidades","definition":"El síndrome de hipogenesia oromandibular y de extremidades (OLHS) es un grupo de trastornos dismórficos que incluye: el síndrome de Charlie M, el síndrome de Hanhart y la anquilosis glosopalatina.Está caracterizado por la asociación de malformaciones asimétricas y graves de las extremidades (afecta principalmente a los segmentos distales) y anomalías de la cavidad oral y la mandíbula (hipoglosia, aglosia, micrognatia, anquilosis glosopalatina, fisura palatina y anomalías gingivales)."},"it":{"name":"Sindrome oromandibolare-ipogenesia degli arti","synonyms":["Sindrome oroacrale"]},"nl":{"name":"Oromandibulaire hypogenesie - hypogenesie van ledematen-syndroom","synonyms":["Oroacraal syndroom"],"definition":"Oromandibulaire hypogenesie - hypogenesie van ledematen-syndroom (OLHS) is een groep van dysmorfe complexen (waaronder Charlie M-syndroom, syndroom van Hanhart, en glossopalatinale ankylose), gekenmerkt door de associatie van ernstige asymmetrische ledemaatdefecten (vooral met betrokkenheid van distale segmenten) en afwijkingen van mondholte en onderkaak (hypoglossie, aglossie, micrognathie, glossopalatinale ankylose, gespleten gehemelte, en anomalieën van gingiva)."},"pt":{"name":"Síndrome de hipogenesia oro-mandibular e dos membros","synonyms":["Síndrome oro-acral"],"definition":"As síndromes oromandibular-hipogenesia dos membros (OLHS) são um grupo de complexos dismórficos (incluindo o síndrome de Charlie M, o síndrome Hanhart e anquilose glosso-palatina; ver estes termos) caracterizados pela associação de defeitos graves assimétricos dos membros (envolvendo primariamente os segmentos distais) e anomalias da cavidade oral e da mandíbula (hipoglossia, aglossia, micrognatia, anquilose glosso-palatina, fenda do palato e anomalias das gengivas)."},"pl":{"name":"Zespół hipogenezji ustno-żuchwowo-kończynowej","synonyms":["Zespół ustno-kończynowy"]},"cs":{"name":"Oroakrální syndrom","synonyms":["Syndrom oromandibulární a končetinové hypogeneze"]},"uk":{"name":"Синдром щелепно-лицьового та кінцівкового гіпогенезу","synonyms":["Ороакральний синдром"],"definition":"Oromandibular-limb hypogenesis syndromes (OLHS) are a group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis; see these terms) characterized by the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies)."},"zh":{"name":"口颚肌-肢体发育不良综合征","synonyms":["口肢端综合征"]},"tr":{"name":"Oromandibular-ekstremite hipogenez sendromu","synonyms":["Oroakral sendrom"]}},"xrefs":[{"source":"MONDO","code":"0017139","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17139","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679764","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4116","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":364571,"name":"Dysostosis with limb and face anomalies as a major feature","classifications":[147,156,199]},{"orpha":156215,"name":"Oromandibular-limb anomalies syndrome","classifications":[147,156,209]}],"children":[{"orpha":1406,"name":"Charlie M syndrome","type":"Malformation syndrome"},{"orpha":141163,"name":"Glossopalatine ankylosis","type":"Malformation syndrome"},{"orpha":989,"name":"Hypoglossia-hypodactyly syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}