{"orpha":184,"name":"Cherubism","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["CRBM"],"definition":"Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-184/","orphanet_url":"https://www.orpha.net/en/disease/detail/184","names":{"fr":{"name":"Chérubisme","synonyms":["CRBM","Chérubinisme"],"definition":"Le chérubisme est une maladie génétique fibro-osseuse rare et autolimitée, survenant chez les enfants et les adolescents. Elle se caractérise par différents degrés d'élargissement bilatéral progressif de la mandibule et/ou du maxillaire, ayant des répercussions cliniques dans les cas sévères."},"de":{"name":"Cherubismus","synonyms":["CRBM"],"definition":"Der Cherubismus ist eine seltene, selbst-limitierte, fibro-ossäre genetische Erkrankung des Kindesalters und der Adoleszenz. Er ist gekennzeichnet durch progrediente, unterschiedlich stark ausgeprägte beidseitigeVergrößerung des Unterkiefers und/oder des Oberkiefers mit klinischen Auswirkungen in schweren Fällen."},"es":{"name":"Querubismo","synonyms":["CRBM"],"definition":"El querubismo es una enfermedad genética fibroósea autolimitada rara de la infancia y la adolescencia que se caracteriza por varios grados de crecimiento anómalo bilateral progresivo de la mandíbula, el maxilar o ambos, con repercusiones clínicas en casos graves."},"it":{"name":"Cherubismo","synonyms":["CRBM"],"definition":"Il cherubismo è una malattia genetica fibro-ossea autolimitante rara dell'infanzia e dell'adolescenza, caratterizzata da un'espansione bilaterale progressiva di entità variabile della mandibola e/o della mascella, che ha ripercussioni cliniche nei casi gravi."},"nl":{"name":"Cherubisme","synonyms":["CRBM"],"definition":"Cherubisme is een zeldzame, zelflimiterende, fibro-ossale, genetische ziekte van de kindertijd en adolescentie en wordt gekenmerkt door een verschillende mate van progressieve bilaterale vergroting van de onderkaak en /of bovenkaak, met klinische gevolgen in ernstige gevallen."},"pt":{"name":"Querubismo"},"pl":{"name":"Cherubizm","synonyms":["CRBM"],"definition":"Cherubizm to rzadka, samoograniczająca się, włóknisto-kostna choroba genetyczna dzieci i młodzieży charakteryzująca się różnego stopnia postępującym obustronnym powiększeniem żuchwy i/lub szczęki, z następstwami klinicznym w ciężkich przypadkach."},"cs":{"name":"Cherubismus","synonyms":["CRBM"]},"uk":{"name":"Херувізм","synonyms":["CRBM"],"definition":"Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases."},"zh":{"name":"家族性巨颌症","synonyms":["CRBM"]},"tr":{"name":"Çerubizm","synonyms":["CRBM"]}},"xrefs":[{"source":"OMIM","code":"118400","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K10.8","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LD24.22","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1729261719"},{"source":"MONDO","code":"0007315","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D002636","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0008029","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6036","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10070535","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":290839,"name":"Autoinflammatory syndrome with immune deficiency","classifications":[156,195]},{"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]},{"orpha":93450,"name":"Primary bone dysplasia with disorganized development of skeletal components","classifications":[147,156,199]},{"orpha":98027,"name":"Rare disease with odontological manifestation","classifications":[197]},{"orpha":619238,"name":"Rare hereditary autoinflammatory disease","classifications":[156]},{"orpha":324936,"name":"Unclassified autoinflammatory syndrome","classifications":[196]},{"orpha":324953,"name":"Unclassified autoinflammatory syndrome of childhood","classifications":[231]}],"children":[],"genes":[{"symbol":"SH3BP2","name":"SH3 domain binding protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"10825","ensembl":"ENSG00000087266","omim":"602104","loci":["4p16.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Not applicable"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":300.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000277","label":"Abnormality of the mandible","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012062","label":"Bone cyst","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012802","label":"Broad jaw","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000293","label":"Full cheeks","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006482","label":"Abnormal dental morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000677","label":"Oligodontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001608","label":"Abnormality of the voice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002870","label":"Obstructive sleep apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000529","label":"Progressive visual loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002781","label":"Upper airway obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null}]}}