{"orpha":3110,"name":"Rombo syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3110/","orphanet_url":"https://www.orpha.net/en/disease/detail/3110","names":{"fr":{"name":"Syndrome de Rombo","definition":"Le syndrome de Rombo est caractérisé par une atrophodermie vermiculée, un milium, une hypotrichose, des tricho-épithéliomes, une vasodilatation périphérique avec cyanose et des carcinomes des cellules basales."},"de":{"name":"Rombo-Syndrom","definition":"Das Rombo-Syndrom ist gekennzeichnet durch wurmförmige Atrophodermie, Milien, Hypotrichose, Trichoepitheliome, periphere Gefäßerweiterungen mit Zyanose und durch Basalzell-Karzinome."},"es":{"name":"Síndrome de Rombo","definition":"ES un síndrome caracterizado por atrofodermia vermiculada, milia, hipotricosis, tricoepiteliomas, vasodilatación periférica con cianosis y carcinoma de células basales."},"it":{"name":"Sindrome di Rombo"},"nl":{"name":"Syndroom van Rombo","definition":"Een syndroom, gekenmerkt door atrophoderma vermiculatum, milia, hypotrichose, tricho-epitheliomen, perifere vasodilatatie met cyanose, en basaalcelcarcinomen."},"pt":{"name":"Síndrome Rombo"},"pl":{"name":"Zespół Rombo"},"cs":{"name":"Romboův syndrom"},"uk":{"name":"Синдром Ромбо","definition":"Rombo syndrome is characterized by vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, peripheral vasodilation with cyanosis and basal cell carcinomas."},"zh":{"name":"Rombo综合征"},"tr":{"name":"Rombo sendromu"}},"xrefs":[{"source":"OMIM","code":"180730","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L98.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.5","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0008390","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535870","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1867147","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4738","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":183487,"name":"Genetic skin tumor or hamartoma","classifications":[156]},{"orpha":79386,"name":"Rare skin tumor or hamartoma","classifications":[187,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Childhood"],"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}