{"orpha":2430,"name":"Congenital macroglossia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare developmental defect during embryogenesis characterized by muscular hypertrophy, adenoid hyperplasia, or vascular malformation that results in an enlarged, often protruding, tongue. Complications include difficulty in swallowing, breathing and mastication, drooling, dental and skeletal deformities, such as malocclusion, open bite, asymmetry in maxillary and mandibular arches. It may be isolated or associated with genetic syndromes.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2430/","orphanet_url":"https://www.orpha.net/en/disease/detail/2430","names":{"fr":{"name":"Macroglossie congénitale","definition":"Anomalie rare du développement embryonnaire caractérisée par une hypertrophie musculaire, une hyperplasie des végétations adénoïdes ou une malformation vasculaire, entraînant l'augmentation du volume de la langue et souvent, sa protubérance. Parmi les complications figurent des troubles de la déglutition et de la mastication, des difficultés respiratoires, une hypersalivation, des malformations squelettiques et dentaires, telles qu'une malocclusion, une béance dentaire et une asymétrie des arcades maxillaire et mandibulaire. La macroglossie peut survenir de manière isolée ou en association avec certains syndromes d'origine génétique."},"de":{"name":"Makroglossie, kongenitale","definition":"Ein seltener Entwicklungsfehler während der Embryogenese, der durch Muskelhypertrophie, Adenoidhyperplasie oder Gefäßfehlbildung gekennzeichnet ist und zu einer vergrößerten, oft abstehenden Zunge führt. Zu den Komplikationen gehören Schwierigkeiten beim Schlucken, Atmen und Kauen, Sabbern, Zahn- und Skelettdeformitäten, wie z. B. Fehlbiss, offener Biss, Asymmetrie der Ober- und Unterkieferbögen. Der Defekt kann isoliert oder in Verbindung mit genetischen Syndromen auftreten."},"es":{"name":"Macroglosia congénita","definition":"Es un defecto del desarrollo embrionario poco frecuente caracterizado por hipertrofia muscular, hiperplasia adenoidea o malformación vascular que resulta en una lengua agrandada y, a menudo, prominente. Las complicaciones incluyen dificultades de la deglución, la respiración y la masticación, babeo, malformaciones dentales y esqueléticas, tales como maloclusión, mordida abierta y asimetría de los arcos maxilares y mandibulares. El defecto puede presentarse aislado o asociado a síndromes genéticos."},"it":{"name":"Macroglossia congenita","definition":"Si tratta di una malattia malformativa rara, causata da un difetto di sviluppo durante l'embriogenesi, caratterizzata da ipertrofia muscolare, iperplasia delle adenoidi, o malformazioni vascolari che esitano nell'ingrandimento della lingua, che è spesso protrudente. Le complicanze comprendono le difficoltà di deglutizione, respirazione e masticazione, l'eccessiva salivazione e le anomalie dei denti e dello scheletro (malocclusione, morso aperto, asimmetria dell'arco mascellare e mandibolare). La malattia può essere isolata o associarsi ad alcune sindromi genetiche."},"nl":{"name":"Congenitale macroglossie","definition":"Een zeldzaam ontwikkelingsdefect tijdens de embryogenese, gekarakteriseerd door musculaire hypertrofie, adenoïdhyperplasie, of vasculaire malformatie met een vergrote, vaak uitstekende, tong tot gevolg. Complicaties zijn onder meer moeilijkheden met slikken, ademen en kauwen, kwijlen, misvormingen van het gebit en het skelet zoals malocclusie, open beet, en asymmetrie van maxillaire en mandibulaire bogen. Het kan geïsoleerd voorkomen of geassocieerd zijn met genetische syndromen."},"pt":{"name":"Macroglossia congénita"},"pl":{"name":"Wrodzony przerost języka"},"cs":{"name":"Vrozená makroglosie"},"uk":{"name":"Вроджена макроглосія","definition":"A rare developmental defect during embryogenesis characterized by muscular hypertrophy, adenoid hyperplasia, or vascular malformation that results in an enlarged, often protruding, tongue. Complications include difficulty in swallowing, breathing and mastication, drooling, dental and skeletal deformities, such as malocclusion, open bite, asymmetry in maxillary and mandibular arches. It may be isolated or associated with genetic syndromes."},"zh":{"name":"先天性巨舌"},"tr":{"name":"Doğumsal makroglosi"}},"xrefs":[{"source":"OMIM","code":"153630","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q38.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA31.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"423141418"},{"source":"MONDO","code":"0007927","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C531735","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0009677","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":156207,"name":"Macroglossia","classifications":[147,156,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.6,"area":"United States","status":"Validated","source":"29570380[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":"2019-06-12","source":"7917123[PMID]_29421209[PMID]","terms":[{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0500030","label":"Abnormal hepatic glycogen storage","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001067","label":"Neurofibromas","frequency":"Very rare (<4-1%)","criteria":null}]}}