{"orpha":141152,"name":"Isolated congenital hypoglossia/aglossia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare head and neck malformation characterized by congenital partial (hypoglossia) or total (aglossia) absence of the tongue. Patients present feeding and respiratory difficulties, as well as delayed speech development and slurred speech. Taste perception is not severely compromised. Associated features include a characteristic facies due to mandibular transverse arch deficiency, oligodontia, and malocclusion, among others.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-141152/","orphanet_url":"https://www.orpha.net/en/disease/detail/141152","names":{"fr":{"name":"Hypoglossie/aglossie isolée congénitale","definition":"Malformation rare de la tête et du cou caractérisée par une absence congénitale partielle (hypoglossie) ou totale (aglossie) de la langue. Les patients présentent des difficultés respiratoires, au niveau de l'alimentation, ainsi qu'un retard de développement de la parole et des troubles de l'élocution. La perception du goût n'est pas gravement atteinte. Les caractéristiques associées comprennent un des traits particuliers du visage dû à la déficience de l'arcade transverse mandibulaire, l'oligodontie et la malocclusion, entre autres."},"de":{"name":"Hypoglossie/Aglossie, isoliert, kongenital","definition":"Eine seltene Fehlbildung im Kopf- und Halsbereich, die durch ein angeborenes teilweises (Hypoglossie) oder vollständiges (Aglossie) Fehlen der Zunge gekennzeichnet ist. Die Patienten haben Schwierigkeiten bei der Nahrungsaufnahme und Atmung sowie eine verzögerte Sprachentwicklung und undeutliche Sprache. Das Geschmacksempfinden ist nicht stark beeinträchtigt. Zu den Begleiterscheinungen gehören ein charakteristisches Gesicht aufgrund fehlender transversaler Kieferbögen, Oligodontie und Zahnfehlstellungen."},"es":{"name":"Hipoglosia/aglosia aislada congénita","definition":"Es una malformación poco frecuente de la cabeza y el cuello caracterizada por la ausencia congénita total (aglosia) o parcial (hipoglosia) de lengua. Los pacientes presentan dificultades respiratorias y en la alimentación, así como retraso en el desarrollo del habla y problemas de dicción. La percepción del gusto no se ve gravemente afectada. Los hallazgos asociados incluyen una facies característica debido a la deficiencia del arco mandibular transversal, oligodontia y maloclusión, entre otros."},"it":{"name":"Ipoglossia/aglossia isolata congenita","definition":"Si tratta di una malformazione rara della testa e del collo, caratterizzata dall'agenesia congenita parziale (ipoglossia) o completa (aglossia) della lingua. I pazienti presentano difficoltà respiratorie e di alimentazione, e ritardo e difficoltà nel linguaggio. La percezione del gusto non è gravemente compromessa. La malattia può associarsi ad una facies caratteristica secondaria al deficit dell'arco trasversale della mandibola, ad oligodontia e a malocclusione."},"nl":{"name":"Geïsoleerde congenitale hypoglossie/aglossie","definition":"Een zeldzame malformatie van hoofd en nek, gekarakteriseerd door congenitale partiële (hypoglossie) of totale (aglossie) afwezigheid van tong. Patiënten vertonen voedings- en ademhalingsproblemen, alsook vertraagde spraakontwikkeling en onduidelijke spraak. Smaakzin is niet ernstig verstoord. Geassocieerde kenmerken zijn onder meer een typisch aangezicht vanwege deficiëntie van onderste tandboog, oligodontie, en malocclusie."},"pt":{"name":"Hipoglossia/aglossia, isolada, congénita","definition":"Aglossia e hipoglossia isolada são termos que abrangem o espetro de anomalias que vai desde a ausência parcial a ausência total da língua. Estas malformações congénitas têm sido classificadas como parte de um grupo de síndromes de hipogenesia oromandibular e de extremidades (ou síndromes oro-acral / OLHS)."},"pl":{"name":"Izolowany wrodzony niedorozwój języka/brak języka"},"cs":{"name":"Izolovaná vrozená hypoglosie/aglosie"},"uk":{"name":"Ізольована вроджена гіпоглоссія/аглосія","definition":"A rare head and neck malformation characterized by congenital partial (hypoglossia) or total (aglossia) absence of the tongue. Patients present feeding and respiratory difficulties, as well as delayed speech development and slurred speech. Taste perception is not severely compromised. Associated features include a characteristic facies due to mandibular transverse arch deficiency, oligodontia, and malocclusion, among others."},"zh":{"name":"先天性舌发育不全/无舌症","definition":"孤立性无舌和缺舌是指舌部分缺失或完全缺失。这些先天性畸形被归为口颚肌-四肢发育不良综合征（OLHS）的一部分。"},"tr":{"name":"İzole doğumsal hipoglossi / aglossi"}},"xrefs":[{"source":"OMIM","code":"612776","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q38.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA31.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2087939516"},{"source":"MONDO","code":"0013003","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680636","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":156212,"name":"Hypoglossia/aglossia","classifications":[147,156,209]}],"children":[{"orpha":563951,"name":"Isolated congenital aglossia","type":"Clinical subtype"},{"orpha":563954,"name":"Isolated congenital hypoglossia","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-11-23","source":"12697349[PMID]","terms":[{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011470","label":"Nasogastric tube feeding in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006265","label":"Aplasia/Hypoplasia of fingers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011471","label":"Gastrostomy tube feeding in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000171","label":"Microglossia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002781","label":"Upper airway obstruction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005483","label":"Abnormal epiglottis morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011951","label":"Aspiration pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010566","label":"Hamartoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012478","label":"Temporomandibular joint ankylosis","frequency":"Occasional (29-5%)","criteria":null}]}}