{"orpha":2964,"name":"Autosomal dominant prognathism","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic, developmental defect during embryogenesis disorder characterized by abnormal forward projection of the mandible beyond the standard relation to the cranial base, with lower incisors often overlapping the upper incisors, that is inherited in an autosomal dominant manner. Association with mildly everted lower eyelids, flat malar area, thickened lower lip and craniosynostosis has been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2964/","orphanet_url":"https://www.orpha.net/en/disease/detail/2964","names":{"fr":{"name":"Prognathisme autosomique dominant","definition":"Anomalie rare du développement embryonnaire d'origine génétique caractérisée par une projection anormale de la mandibule vers l'avant, au-delà de la position standard par rapport à la base du crâne, les incisives inférieures chevauchant souvent les incisives supérieures. Le mode de transmission est autosomique dominant. Une association avec des paupières inférieures légèrement éversées, une zone malaire aplatie, une lèvre inférieure épaissie et une craniosynostose a été rapportée."},"de":{"name":"Prognathie, autosomal-dominante"},"es":{"name":"Prognatismo autosómico dominante","definition":"Es un trastorno por defecto del desarrollo embrionario, genético y poco frecuente, caracterizado por una protrusión anómala de la mandíbula más allá de la relación estándar con la base del cráneo. A menudo los incisivos inferiores se superponen a los superiores. El modo de herencia es autosómico dominante. Otras anomlías que se han descrito asociadas son: párpados inferiores levemente evertidos, zona malar plana, labio inferior engrosado y craneosinostosis."},"it":{"name":"Prognatismo autosomico dominante","definition":"Il prognatismo autosomico dominante è un difetto genetico raro dello sviluppo dell'embrione, caratterizzato da una protrusione anomala della mandibola, maggiore rispetto alla normale sporgenza relativamente alla base del cranio, spesso con la sovrapposizione degli incisivi inferiori su quelli superiori. La trasmissione è autosomica dominante. I pazienti possono presentare anche palpebre inferiori lievemente anteverse, appiattimento della regione malare, labbro inferiore grosso e craniosinostosi."},"nl":{"name":"Autosomaal dominante prognathie","definition":"Een zeldzaam, genetisch ontwikkelingsdefect tijdens de embryogenese, gekarakteriseerd door een abnormaal ver naar voren uitstekende onderkaak voorbij de standaard positie ten opzichte van de schedelbasis, waarbij de onderste snijtanden vaak overlappen met de bovenste snijtanden, overgeërfd op autosomaal dominante wijze. Er werd ook reeds associatie gerapporteerd met mildle eversie van de onderste oogleden, vlakke jukbeenderen, dikke onderlip en craniosynostose."},"pt":{"name":"Prognatismo autossómico dominante"},"pl":{"name":"Autosomalny dominujący prognatyzm","definition":"*Autosomalny dominujący prognatyzm jest rzadką, genetycznie uwarunkowaną wadą rozwojową powstałą w wyniku zaburzeń embriogenezy, która charakteryzuje się nieprawidłową projekcją żuchwy tj. jej wysunięciem do przodu poza standardowe ustawienie w stosunku do podstawy czaszki, z dolnymi siekaczami często zachodzącymi na górne. Dziedziczona jest w sposób autosomalny dominujący. Opisywano występowanie lekko wywiniętych powiek dolnych, spłaszczenie okolic kości jarzmowych, pogrubienie dolnej wargi oraz kraniosynostozę."},"cs":{"name":"Autozomálně dominantní prognatie"},"uk":{"name":"Аутосомно-домінантний прогнатизм","definition":"A rare, genetic, developmental defect during embryogenesis disorder characterized by abnormal forward projection of the mandible beyond the standard relation to the cranial base, with lower incisors often overlapping the upper incisors, that is inherited in an autosomal dominant manner. Association with mildly everted lower eyelids, flat malar area, thickened lower lip and craniosynostosis has been reported."},"zh":{"name":"常染色体显性遗传凸颌畸形"},"tr":{"name":"Otozomal dominant öne çıkık çene"}},"xrefs":[{"source":"OMIM","code":"176700","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K07.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DA0E.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008312","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4755315","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10319","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":55.0,"area":"Worldwide","status":"Validated","source":"18074368[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010807","label":"Open bite","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Frequent (79-30%)","criteria":null}]}}