{"orpha":141163,"name":"Glossopalatine ankylosis","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Cosack syndrome"],"definition":"A rare oromandibular-limb hypogenesis syndrome (OLHS) characterised by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge. It may be associated with other abnormalities such as cleft palate (in which case the tongue may be attached to the nasal septum), mandibular hypoplasia, upper-lip hypoplasia, hypodontia and variable limb anomalies (e.g. oligodactyly, syndactyly and polydactyly).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-141163/","orphanet_url":"https://www.orpha.net/en/disease/detail/141163","names":{"fr":{"name":"Ankylose glossopalatine","synonyms":["Syndrome de Cosack"],"definition":"L'ankylose glossopalatine est une maladie qui appartient au groupe des syndromes oromandibulaire-réduction des membres (SORM) et qui est caractérisée par la présence d'une synéchie d'épaisseur variable reliant la langue au palais osseux ou au rebord alvéolaire du maxillaire."},"de":{"name":"Ankylose, glossopalatine","definition":"Diese seltene Störung gehört zur Gruppe der Syndrome mit Mund-Mandibula-Gliedmaßen-Hypogenesie (OLHS) und ist gekennzeichnet durch intraorale Bänder unterschiedlicher Dicke, mit denen die Zunge am Gaumen oder an der Alveolarleiste des Oberkiefers fixiert ist. Sie kann mit anderen Fehlbildungen wie einer Gaumenspalte (in diesen Fällen ist die Zunge an das Nasenseptum fixiert), einem hypoplastischen Unterkiefer, einer hypoplastischen Oberlippe, einer Hypodontie sowie verschiedenen Gliedmaßenanomalien (Oligodaktylie, Syndaktylie und Polydaktylie) einhergehen."},"es":{"name":"Anquilosis glosopalatina","synonyms":["Síndrome de Cosack"],"definition":"Es un síndrome de hipogenesia oromandibular y de extremidades (OLHS, por sus siglas en inglés) poco frecuente, caracterizado por la presencia de una banda intraoral de grosor variable que une la lengua al paladar duro o al reborde alveolar maxilar. Puede estar asociado con otras anomalías como paladar hendido (en cuyo caso la lengua puede estar adherida al tabique nasal), hipoplasia mandibular, hipoplasia del labio superior, hipodoncia y anomalías variables de las extremidades (como oligodactilia, sindactilia y polidactilia)."},"it":{"name":"Anchilosi glossopalatina"},"nl":{"name":"Glossopalatinale ankylose","synonyms":["Syndroom van Cosack"],"definition":"Een zeldzaam oromandibulaire hypogenesie - hypogenesie van ledematen-syndroom (OLHS), gekenmerkt door de aanwezigheid van een intraorale band met variabele dikte die de tong vasthecht aan het harde gehemelte of de maxillaire alveolaire botkam (processus alveolaris). Het kan geassocieerd zijn met andere afwijkingen zoals gespleten gehemelte (waarbij de tong kan vastgehecht zijn aan het neusseptum), mandibulaire hypoplasie, hypoplasie van bovenlip, hypodontie, en variabele ledemaatanomalieën (zoals oligodactylie, syndactylie en polydactylie)."},"pt":{"name":"Anquilose glossopalatina","definition":"A anquilose glossopalatina é uma doença pertencente ao grupo das síndromes de hipogenesia oromandibular e de extremidades (ou síndromes oro-acral / OLHS) e é caracterizada pela presença de banda (ou sinéquia) intraoral de espessura variável ligando a língua ao palato duro ou à ponte alveolar maxilar."},"pl":{"name":"Ankyloza językowo-podniebienna","synonyms":["Zespół Cosacka"],"definition":"Rzadki zespół hipogenezji ustno-żuchwowo-kończynowej, charakteryzujący się obecnością wewnątrzustnego pasma o różnej grubości, mocującego język do podniebienia twardego lub wyrostka zębodołowego szczęki. Może to być związany z innymi nieprawidłowościami, takimi jak rozszczep podniebienia (w tym przypadku język może być przyczepiony do przegrody nosowej), hipoplazja żuchwy, hipoplazja wargi górnej, hipodoncja i zmienne anomalie kończyn (np. oligodaktylia, syndaktylia i polidaktylia)."},"cs":{"name":"Glosopalatální ankylóza","synonyms":["Cosackův syndrom"]},"uk":{"name":"Глотково-піднебінний анкілоз","synonyms":["Козацький синдром"],"definition":"A rare oromandibular-limb hypogenesis syndrome (OLHS) characterised by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge. It may be associated with other abnormalities such as cleft palate (in which case the tongue may be attached to the nasal septum), mandibular hypoplasia, upper-lip hypoplasia, hypodontia and variable limb anomalies (e.g. oligodactyly, syndactyly and polydactyly)."},"zh":{"name":"舌腭关节强直","synonyms":["Cosack综合征"],"definition":"舌腭关节强直是属于口颚肌-四肢发育不良综合征（OLHS）的一种，其特征是舌与硬腭或上颌牙槽嵴之间存在厚度不等的口内带。"},"tr":{"name":"Glossopalatin ankiloz","synonyms":["Cosack sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q38.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD25.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1608847387"},{"source":"MONDO","code":"0015399","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303569","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19954","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":2749,"name":"Oromandibular-limb hypogenesis syndrome","classifications":[147,156,199,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}