{"orpha":141214,"name":"Isolated congenital syngnathia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated congenital maxillomandibular fusion"],"definition":"Isolated congenital syngnathia is a very rare developmental defect during embryogenesis disorder characterized by varying degrees of congenital fusion (ranging from simple mucosal adhesions to extensive bony fusion) of mandible to maxilla that is not associated with any other malformations. Patients present with mouth opening limitation (which could range from severe to minimal restriction) that typically results in feeding, swallowing and/or respiratory difficulties which may lead to failure to thrive, malnutrition and/or temporomandibular joint ankylosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-141214/","orphanet_url":"https://www.orpha.net/en/disease/detail/141214","names":{"fr":{"name":"Syngnathie congénitale isolée","synonyms":["Fusion maxillo-mandibulaire congénitale isolée"],"definition":"La syngnathie congénitale isolée est une anomalie très rare du développement survenant au cours de l'embryogenèse. Elle se caractérise par divers degrés de fusion congénitale de la mandibule au maxillaire (allant de simples adhérences muqueuses à une fusion osseuse étendue), en l'absence d'autres malformations. L'ouverture de la bouche des patients est limitée (limitation minimale à sévère) et conduit généralement en des difficultés pour s'alimenter, avaler et/ou respirer, ce qui peut induire un retard de croissance staturo-pondérale, une malnutrition et/ou une ankylose articulaire temporo-mandibulaire."},"de":{"name":"Syngnathie, isolierte kongenitale","synonyms":["Maxillomandibuläre Fusion, isolierte kongenitale"],"definition":"Bei der isolierten kongenitalen Syngnathie handelt es sich um einen sehr seltenen Entwicklungsdefekt während der Embryogenese, der durch einen unterschiedlichen Grad der kongenitalen Verschmelzung (von einfachen Schleimhautadhäsionen bis hin zu einer ausgedehnten knöchernen Verschmelzung) des Unterkiefers mit dem Oberkiefer gekennzeichnet ist und nicht mit anderen Fehlbildungen einhergeht. Die Patienten präsentieren sich mit einer Einschränkung der Mundöffnung (die von einer schweren bis zu einer minimalen Einschränkung reichen kann), die typischerweise zu Schwierigkeiten bei der Nahrungsaufnahme, beim Schlucken und/oder bei der Atmung führt, was zu einem Versagen der Nahrungsaufnahme, Unterernährung und/oder einer Kiefergelenksankylose führen kann."},"es":{"name":"Signatia congénita aislada","synonyms":["Fusión maxilomandibular congénita aislada"],"definition":"La signatia congénita aislada es un defecto del desarrollo durante la embriogénesis muy poco frecuente caracterizado por diversos grados de fusión congénita (que van desde simples adhesiones de la mucosa hasta fusión ósea extensa) de la mandíbula al maxilar y que no está asociada con ninguna otra malformación. Los afectados presentan limitación de la apertura bucal (que puede variar desde una restricción mínima a grave) que típicamente resulta en problemas de alimentación, deglución y/o dificultad respiratoria, pudiendo causar falta de crecimiento, desnutrición y/o anquilosis de la articulación temporomandibular."},"it":{"name":"Signazia congenita isolata","definition":"La signazia congenita isolata è un difetto molto raro dello sviluppo dell'embrione, caratterizzato dalla fusione congenita di grado variabile (dalla semplice adesione della mucosa alla fusione ossea estesa) della mandibola e della mascella, in assenza di altre malformazioni. I pazienti presentano limitazioni minime-gravi all'apertura della bocca, che in genere causano difficoltà di alimentazione, deglutizione e/o respirazione, che possono esitare nel ritardo della crescita, nella malnutrizione e/o nell'anchilosi dell'articolazione temporo-mandibolare."},"nl":{"name":"Geïsoleerde congenitale syngnathie","synonyms":["Geïsoleerde congenitale maxillomandibulaire fusie"],"definition":"Geïsoleerde congenitale syngnathie is een zeer zeldzaam ontwikkelingsdefect tijdens de embryogenese dat gekarakteriseerd wordt door verschillende gradaties van congenitale fusie (gaande van eenvoudige adhesies van slijmvlies tot uitgebreide botfusie) van de onderkaak tot de bovenkaak, en dat niet geassocieerd is met enige andere malformaties. Patiënten vertonen een beperking van de mondopening (gaande van minimaal tot ernstig) die doorgaans resulteert in voedings-, slik- en/of ademhalingsproblemen, die op hun beurt kunnen leiden tot groeiachterstand, malnutritie en/of ankylose van het temporomandibulair gewricht."},"pt":{"name":"Singnatia congénita"},"pl":{"name":"Wrodzony zrost szczęki i żuchwy","synonyms":["Wrodzony zrost szczękowo-żuchwowy"]},"cs":{"name":"Vrozená syngnatie","synonyms":["Vrozená maxilomandibulární fúze"]},"uk":{"name":"Ізольована вроджена сингнатія","synonyms":["Ізольоване вроджене щелепно-лицьове зрощення"],"definition":"Isolated congenital syngnathia is a very rare developmental defect during embryogenesis disorder characterized by varying degrees of congenital fusion (ranging from simple mucosal adhesions to extensive bony fusion) of mandible to maxilla that is not associated with any other malformations. Patients present with mouth opening limitation (which could range from severe to minimal restriction) that typically results in feeding, swallowing and/or respiratory difficulties which may lead to failure to thrive, malnutrition and/or temporomandibular joint ankylosis."},"zh":{"name":"孤立性先天连颌畸形","synonyms":["孤立性先天性上颌骨融合"],"definition":"孤立性先天性连颌畸形是一种非常罕见的胚胎发育缺陷，其特征是从下颌骨到上颌骨不同程度的先天性融合（从单纯的粘膜粘连到广泛的骨融合），且与其他畸形无关。患者出现张口受限（可能的受限范围从严重到轻不等），通常导致进食、吞咽和/或呼吸困难，从而可能导致体重增长缓慢、营养不良和/或颞下颌关节强直。"},"tr":{"name":"İzole Doğumsal singnati","synonyms":["İzole doğumsal maksillomandibular füzyon"]}},"xrefs":[{"source":"ICD-10","code":"Q67.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA5Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"942093002"},{"source":"MONDO","code":"0015409","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706392","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19962","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":156237,"name":"Syndrome or malformation associated with head and neck malformations","classifications":[147,200,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[],"phenotypes":null}