{"orpha":141276,"name":"Tessier number 7 facial cleft","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Commissural facial cleft","Transverse facial cleft"],"definition":"A rare lateral facial cleft characterized by a temporo-zygomatic defect, usually with absence of the zygomatic arch and deformities of the mandibular ramus, condyle, and coronoid process. Associated soft tissue abnormalities include malformations of the ear and hypoplasia or absence of the temporal muscle. Preauricular hair may be absent or divided into two portions. Facial manifestations include macrostomia (with extension of the cleft to the corner of the mouth) and pre-auricular tags. Incomplete clefts may be found in the molar region and between the maxillary tuberosity and pterygoid process.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-141276/","orphanet_url":"https://www.orpha.net/en/disease/detail/141276","names":{"fr":{"name":"Fente faciale 7 de Tessier","synonyms":["Fente faciale commissurale","Fente faciale transverse"],"definition":"Fente faciale latérale caractérisée par une fente temporo-zygomatique, généralement accompagnée d'une absence d'arcade zygomatique et de déformations de la branche de la mandibule, du condyle mandibulaire et du processus coronoïde de la mandibule. Les anomalies des tissus mous associées comprennent des malformations de l'oreille et une hypoplasie ou une absence de muscle temporal. La patte des cheveux peut être absente ou séparée en deux portions. Les malformations faciales comprennent macrostomie (avec extension de la fente à la commissure labiale) et chondromes prétragiens. Des fentes incomplètes peuvent être observées dans la région des molaires, ainsi qu'entre la tubérosité maxillaire et les processus ptérygoïdes."},"de":{"name":"Gesichtsspalte, Tessier 7","synonyms":["Gesichtsspalte, kommissurale","Gesichtsspalte, transversale","Makrostomie"],"definition":"Eine seltene seitliche Gesichtsspalte, die durch einen temporo-zygomatischen Defekt gekennzeichnet ist, in der Regel mit Fehlen des Jochbogens und Fehlbildungen des Unterkiefergewölbes, des Kondylus und des Processus coronoideus. Zu den damit verbundenen Weichteilanomalien gehören Fehlbildungen des Ohrs und Hypoplasie oder Fehlen des Musculus temporalis. Die präaurikulären Haare können fehlen oder zweigeteilt sein. Manifestationen im Gesicht sind Makrostomie (mit Ausdehnung der Spalte bis zum Mundwinkel) und präaurikuläre Tags. Unvollständige Schlitze können im Molarenbereich und zwischen dem Tuberculum maxillare und dem Processus pterygoideus auftreten."},"es":{"name":"Hendidura facial número 7 de Tessier","synonyms":["Hendidura facial en la comisura","Hendidura facial transversal"],"definition":"Es una hendidura facial lateral poco frecuente caracterizada por un defecto temporo-cigomático, por lo general, con ausencia del arco cigomático y malformaciones de la rama mandibular, el cóndilo y la apófisis coronoide. Las anomalías de los tejidos blandos asociadas incluyen malformaciones del pabellón auricular e hipoplasia o ausencia del músculo temporal. El cabello localizado en el área preauricular puede estar ausente o separado en dos zonas. Las manifestaciones faciales incluyen macrostomía (con extensión de la hendidura hasta la comisura de la boca) y apéndices preauriculares. Tambien se ha descrito hendiduras incompletas en la región molar y entre la tuberosidad maxilar y la apófisis pterigoidea."},"it":{"name":"Schisi facciale di Tessier numero 7","synonyms":["Schisi facciale commissurale","Schisi facciale trasversale"],"definition":"Si tratta di una schisi facciale laterale rara, caratterizzata da un difetto temporo-zigomatico, di solito con agenesia dell'arco zigomatico e deformità del ramo mandibolare, del condilo e del processo coronoideo. Le anomalie dei tessuti molli comprendono le malformazioni dell'orecchio e l'ipoplasia o l'agenesia del muscolo temporale. I capelli preauricolari possono essere assenti o divisi in due porzioni. I dismorfismi facciali comprendono la macrostomia (con estensione della schisi all'angolo della bocca) e le fossette preauricolari. Le schisi incomplete si localizzano nella regione molare e tra la tuberosità mascellare e il processo pterigoideo."},"nl":{"name":"Aangezichtsspleet Tessier nummer 7","synonyms":["Commissurale aangezichtsspleet","Transversale aangezichtsspleet"],"definition":"Een zeldzame laterale aangezichtsspleet, gekenmerkt door een temporo-zygomatisch defect, meestal met afwezigheid van jukboog en deformiteiten van ramus mandibulae, processus condylaris mandibulae (gewrichtskop van kaakgewricht), en processus coronoideus mandibulae (voorste uitsteeksel van ramus mandibulae). Geassocieerde afwijkingen van weke delen zijn onder meer malformaties van oor, en hypoplasie of afwezigheid van musculus temporalis (slaapspier). Preauriculair haar kan afwezig zijn, of in twee delen verdeeld zijn. Faciale manifestaties zijn onder meer macrostomie (met extensie van de spleet naar de mondhoek) en preauriculaire aanhangsels. Mogelijk worden onvolledige spleten aangetroffen in de regio van de molaren en tussen tuber van maxilla en processus pterygoideus."},"pt":{"name":"Fenda facial Tessier número 7","synonyms":["Fenda facial comissural","Fenda facial transversa"]},"pl":{"name":"Spoidłowy rozszczep twarzy","synonyms":["Makrostomia","Rozszczep twarzy nr 7 wg klasyfikacji Tessiera"]},"cs":{"name":"Faciální rozštěp dle Tessiera číslo 7","synonyms":["Makrostomie"]},"uk":{"name":"Розщілина обличчя Тессьє №7","synonyms":["Спайкова розщілина обличчя","Поперечна розщілина обличчя"],"definition":"A rare lateral facial cleft characterized by a temporo-zygomatic defect, usually with absence of the zygomatic arch and deformities of the mandibular ramus, condyle, and coronoid process. Associated soft tissue abnormalities include malformations of the ear and hypoplasia or absence of the temporal muscle. Preauricular hair may be absent or divided into two portions. Facial manifestations include macrostomia (with extension of the cleft to the corner of the mouth) and pre-auricular tags. Incomplete clefts may be found in the molar region and between the maxillary tuberosity and pterygoid process."},"zh":{"name":"Tessier 7型面裂","synonyms":["联合性面裂"]},"tr":{"name":"Tessier 7 numaralı yüz yarığı","synonyms":["Makrostomi","Enine fasiyal yarık","Komissural fasiyal yarık"]}},"xrefs":[{"source":"OMIM","code":"613545","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q18.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA51","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"691720151"},{"source":"MONDO","code":"0013300","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4552111","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":141269,"name":"Lateral facial cleft","classifications":[147,156,209]}],"children":[],"genes":[{"symbol":"PTCH2","name":"patched 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19208383[PMID]","hgnc":"9586","ensembl":"ENSG00000117425","omim":"603673","loci":["1p34.1"]},{"symbol":"SPECC1L","name":"sperm antigen with calponin homology and coiled-coil domains 1 like","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21703590[PMID]","hgnc":"29022","ensembl":"ENSG00000100014","omim":"614140","loci":["22q11.23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[],"phenotypes":null}