{"orpha":210576,"name":"Congenital temporomandibular joint ankylosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital trismus"],"definition":"Congenital temporomandibular joint ankylosis is a rare maxillofacial disorder characterized by significant reduction in mouth opening (i.e. from a few millimeters to a few centimeters) in the absence of acquired factors (e.g. trauma, infection) contributing to the ankylosis. It is associated with variable degrees of facial dysmorphism (i.e. lateral deviation of the mandible and chin, lower facial asymmetry, retrognathia, micrognathia, dental malocclusion) and patients typically present with feeding and breathing difficulties. Developmental delay, hypotonia, seizures, and additional dysmorphic features (e.g. pectus excavatum, low-set ears, hypoplastic alae nasi) have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-210576/","orphanet_url":"https://www.orpha.net/en/disease/detail/210576","names":{"fr":{"name":"Ankylose congénitale temporo-mandibulaire","synonyms":["Trismus congénital"],"definition":"L'ankylose congénitale temporo-mandibulaire est un trouble maxillo-facial rare caractérisé par une réduction significative de l'ouverture de la bouche (de quelques millimètres à quelques centimètres), en l'absence de facteurs acquis (traumatisme, infection) contribuant à l'ankylose. Elle est associée à une dysmorphie faciale de degrés divers (déviation latérale de la mandibule et du menton, asymétrie de la partie inférieure du visage, rétrognathie, micrognathie, malocclusion dentaire), et les patients présentent typiquement des difficultés pour s'alimenter et pour respirer. Un retard de développement, une hypotonie, des convulsions et des signes dysmorphiques additionnels (pectus excavatum, oreilles implantées basses, ailes du nez hypoplasiques) ont aussi été rapportés."},"de":{"name":"Kiefergelenkankylose, kongenitale","synonyms":["Trismus, kongenitaler"],"definition":"Die angeborene Kiefergelenkankylose ist eine seltene Kiefergelenkerkrankung, die durch eine signifikante Einschränkung der Mundöffnung (d.h. von einigen Millimetern bis zu einigen Zentimetern) gekennzeichnet ist, ohne dass erworbene Faktoren (z.B. Trauma, Infektion) zur Ankylose beitragen. Es ist mit unterschiedlichen Graden von Gesichtsdysmorphismus assoziiert (d.h. seitliche Abweichung des Unterkiefers und des Kinns, Asymmetrie des Unterkiefers, Retrognathie, Mikrognathie, Zahnfehlstellung) und die Patienten präsentieren sich typischerweise mit Fütterungs- und Atembeschwerden. Entwicklungsverzögerung, Hypotonie, Krampfanfälle und zusätzliche dysmorphe Merkmale (z. B. Pectus excavatum, tief angesetzte Ohren, hypoplastische Alae nasi) sind ebenfalls berichtet worden."},"es":{"name":"Anquilosis congénita de la articulación temporomandibular","synonyms":["Trismus congénito"],"definition":"La anquilosis congénita de la articulación temporomandibular es un trastorno maxilofacial poco frecuente caracterizado por una reducción significativa en la apertura de la boca (es decir, desde unos milímetros hasta unos pocos centímetros) en ausencia de factores adquiridos (por ejemplo, trauma, infección) que contribuyan a la anquilosis. Se asocia con grados variables de dismorfia facial (es decir, desviación lateral de la mandíbula y del mentón, asimetría facial inferior, retrognatia, micrognatia, maloclusión dental) y los afectados suelen presentar dificultades alimentarias y respiratorias. También se han notificado casos de retraso del desarrollo, hipotonía, convulsiones y características dismórficas adicionales (por ejemplo, pectus excavatum, orejas de implantación baja, alas nasales hipoplásicas)."},"it":{"name":"Anchilosi congenita dell'articolazione temporomandibolare","synonyms":["Trisma congenito"],"definition":"L'anchilosi congenita dell'articolazione temporo-mandibolare è una malattia maxillofacciale rara, caratterizzata da una significativa riduzione dell'apertura della bocca (da pochi millimetri a qualche centimetro) in assenza di fattori acquisiti (trauma, infezioni) che contribuiscano all'anchilosi. Si associa a dismorfismi facciali di grado variabile (deviazione laterale della mandibola e del mento, asimmetria della porzione inferiore del viso, retrognazia, micrognazia, malocclusione dentale). Di solito i pazienti presentano difficoltà di alimentazione e respirazione. Sono stati descritti casi di ritardo dello sviluppo, ipotonia, crisi epilettiche e altri dismorfismi (pectus excavatum, orecchie a basso impianto, ipoplasia delle ali del naso)."},"nl":{"name":"Congenitale ankylose van temporomandibulair gewricht","synonyms":["Congenitale ankylose van kaakgewricht","Congenitale trismus"],"definition":"Congenitale ankylose van het temporomandibulair gewricht is een zeldzame maxillofaciale stoornis die gekarakteriseerd wordt door een significante beperking van de mondopening (i.e. van enkele millimeters tot enkele centimeters) in afwezigheid van verworven factoren (e.g. trauma, infectie) die bijdragen aan de ankylose. Het is geassocieerd met variabele gradaties van faciale dysmorfie (i.e. laterale afwijking van de kaak en de kin, asymmetrie van het onderste deel van het gelaat, retrognathie, micrognathie, beetanomalie) en patiënten vertonen doorgaans voedings- en ademhalingsproblemen. Ontwikkelingsachterstand, hypotonie, insulten, en bijkomende dysmorfe kenmerken (e.g. pectus excavatum (trechterborst), laagstaande oren, hypoplastische neusvleugels) werden ook reeds gerapporteerd."},"pt":{"name":"Anquilose congénita das articulações temporomandibulares"},"pl":{"name":"Wrodzona ankyloza stawu skroniowo-żuchwowego","synonyms":["Szczękościsk wrodzony"]},"cs":{"name":"Vrozená ankylóza temporomandibulárního kloubu","synonyms":["Vrozený trismus"]},"uk":{"name":"Вроджений анкілоз скронево-нижньощелепного суглоба","synonyms":["Вроджений тризм"],"definition":"Congenital temporomandibular joint ankylosis is a rare maxillofacial disorder characterized by significant reduction in mouth opening (i.e. from a few millimeters to a few centimeters) in the absence of acquired factors (e.g. trauma, infection) contributing to the ankylosis. It is associated with variable degrees of facial dysmorphism (i.e. lateral deviation of the mandible and chin, lower facial asymmetry, retrognathia, micrognathia, dental malocclusion) and patients typically present with feeding and breathing difficulties. Developmental delay, hypotonia, seizures, and additional dysmorphic features (e.g. pectus excavatum, low-set ears, hypoplastic alae nasi) have also been reported."},"zh":{"name":"先天性颞下颌关节强直","synonyms":["先天性牙关紧闭症"],"definition":"先天性颞下颌关节强直是一种罕见的颌面部疾病，在没有后天因素（e.g.外伤、感染）导致强直的情况下，患者表现为张口明显受限（i.e.从几毫米到几厘米）。它与不同程度的面部畸形有关（i.e.下颌骨和下巴的外侧偏斜，下面部不对称，下颌后缩，小颌畸形，牙齿咬合不齐），其主要临床表现为进食和呼吸困难，还可出现发育迟缓、肌张力低下、惊厥和其他畸形特征（e.g.漏斗胸、低位耳、鼻翼发育不良）。"},"tr":{"name":"Doğumsal temporomandibular eklem ankilozu","synonyms":["Doğumsal trismus"]}},"xrefs":[{"source":"ICD-10","code":"K07.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0016220","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706319","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68329,"name":"Rare maxillo-facial surgical disease"},"parents":[{"orpha":210581,"name":"Temporomandibular joint anomaly","classifications":[209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}