{"orpha":3184,"name":"Steatocystoma multiplex-natal teeth syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare malformation syndrome characterized by generalized multiple steatocystomas and natal teeth.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3184/","orphanet_url":"https://www.orpha.net/en/disease/detail/3184","names":{"fr":{"name":"Syndrome de stéatocystome multiple-dents néonatales","definition":"Le syndrome stéatocystome multiple - dents néonatales est caractérisé par de multiples stéatocystomes généralisés et la présence des dents à la naissance."},"de":{"name":"Steatokystoma multiplex - neonatale Zähne","definition":"Das Syndrom Steatokystoma multiplex und neonatale Zähne ist gekennzeichnet durch generalisierte multiple Steatokystome und Neugeborenenzähne."},"es":{"name":"Síndrome de esteatocistoma múltiple-dientes neonatales","definition":"Es un síndrome caracterizado por esteatocistomas múltiples generalizados y dientes neonatales."},"it":{"name":"Steatocistoma - denti neonatali"},"nl":{"name":"Steatocystoma multiplex - natale tanden-syndroom","definition":"Steatocystoma multiplex - natale tanden-syndroom wordt gekenmerkt door gegeneraliseerde multipele steatocystomen en natale tanden."},"pt":{"name":"Síndrome de esteatocistoma múltiplo-dentes neonatais","definition":"O síndrome esteatocistoma multiplex e dentes neonatais é caracterizada pela esteatocistomas múltiplos generalizados e dentes neonatais."},"pl":{"name":"Mnogie torbiele łojowe - zęby noworodkowe"},"cs":{"name":"Syndrom zahrnující steatocystoma multiplex a natální zuby"},"uk":{"name":"Синдром множинної стеатоцистоми-вроджених зубів","definition":"A rare malformation syndrome characterized by generalized multiple steatocystomas and natal teeth."},"zh":{"name":"多发性皮脂囊肿-胎生牙综合征"},"tr":{"name":"Steatosistoma multipleks natal diş sendromu"}},"xrefs":[{"source":"OMIM","code":"184510","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L72.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008486","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537487","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304819","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5004","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183580,"name":"Genetic malformation syndrome with odontal and/or periodontal component","classifications":[156]},{"orpha":183460,"name":"Genetic sebaceous gland anomaly","classifications":[156]},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]},{"orpha":79372,"name":"Sebaceous gland anomaly","classifications":[187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}