{"orpha":2930,"name":"Cronkhite-Canada syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Gastrointestinal polyposis-ectodermal changes syndrome","Gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome"],"definition":"Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2930/","orphanet_url":"https://www.orpha.net/en/disease/detail/2930","names":{"fr":{"name":"Syndrome de Cronkhite-Canada","synonyms":["Syndrome de polypose gastro-intestinale-anomalies ectodermiques","Syndrome de polypose gastro-intestinale-hyperpigmentation-alopécie-onychodystrophie"],"definition":"Syndrome rare de polypose gastro-intestinale caractérisé par l'association d'une polypose gastro-intestinale non héréditaire et d'une triade d'atteintes cutanées à type d'alopécie, de modifications des ongles et d'hyperpigmentation."},"de":{"name":"Cronkhite-Canada-Syndrom","synonyms":["Gastrointestinale Polypose - ektodermale Veränderungen","Polyposis - Hyperpigmentierung - Alopezie - Anomalien der Fingernägel"],"definition":"Das Cronkhite-Canada-Syndrom (CCS) ist ein seltenes gastrointestinales (GI) Polyposis-Syndrom, das durch die Assoziation einer nicht-hereditären GI-Polyposis mit der kutanen Trias von Alopezie, Nagelveränderungen und Hyperpigmentierung gekennzeichnet ist."},"es":{"name":"Síndrome de Cronkhite-Canada","synonyms":["Poliposis gastrointestinal-cambios ectodérmicos","Poliposis gastrointestinal-pigmentación cutánea-alopecia-cambios en las uñas","Poliposis gastrointestinal-pigmentación de la piel-alopecia-cambios en las uñas","Poliposis-pigmentación de la piel-alopecia-cambios en las uñas de las manos"],"definition":"El síndrome de Cronkhite-Canada (SCC) es un síndrome raro de poliposis gastrointestinal (GI) caracterizado por la asociación de poliposis GI no hereditaria con la triada cutánea de alopecia, alteraciones en las uñas e hiperpigmentación."},"it":{"name":"Sindrome di Cronkhite-Canada","synonyms":["Poliposi gastrointestinale - anomalie ectodermiche","Poliposi gastrointestinale - pigmentazione cutanea - alopecia - anomalie delle unghie"],"definition":"La sindrome di Cronkhite-Canada (CCS) è una sindrome rara da poliposi gastrointestinale (GI), caratterizzata dall'associazione tra la poliposi GI non ereditaria e da una triade dermatologia comprendente alopecia, alterazioni delle unghie e iperpigmentazione."},"nl":{"name":"Syndroom van Cronkhite-Canada","synonyms":["Gastro-intestinale polyposis - ectodermale veranderingen-syndroom","Gastro-intestinale polyposis - huidpigmentatie - alopecie - veranderingen van vingernagels-syndroom"],"definition":"Syndroom van Cronkhite-Canada (CCS) is een zeldzaam gastro-intestinaal (GI) polyposesyndroom dat gekarakteriseerd wordt door de associatie van niet-erfelijke GI polypose met de cutane triade van alopecie, veranderingen aan de nagels, en hyperpigmentatie."},"pt":{"name":"Síndrome Cronkhite-Canada","synonyms":["Síndrome de polipose gastrointestinal-alterações ectodérmicas","Síndrome de polipose gastrointestinal-hiperpigmentação cutânea-alopecia-anomalias ungueais"],"definition":"A síndrome de Cronkhite-Canada (CCS) é caracterizada pela associação de polipose gastrointestinal não-hereditária com a tríade cutânea de alopécia, alterações das unhas e hiperpigmentação."},"pl":{"name":"Zespół Cronkhite i Canada","synonyms":["Polipy żołądka i jelit - pigmentacja skóry - łysienie - zmiany paznokci u rąk","Polipy żołądka i jelit - zmiany naskórka"]},"cs":{"name":"Cronkhiteův-Canadové syndrom","synonyms":["Syndrom zahrnující gastrointersticiální polypózu a ektodermální změny","Syndrom zahrnující gastrointestinální polypózu, kožní pigmentaci, alopecii a změny nehtů","Cronkhite-Canadové syndrom"]},"uk":{"name":"Синдром Кронхіта-Канади","synonyms":["Синдром поліпозно-ектодермальних змін шлунково-кишкового тракту","Синдром шлунково-кишкового поліпозу - пігментації шкіри - алопеції - зміни нігтів"],"definition":"Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation."},"zh":{"name":"Cronkhite-Canada综合征","synonyms":["胃肠道多发息肉-皮肤色素沉着-脱发-指甲改变综合征"]},"tr":{"name":"Cronkhite-Canada sendromu","synonyms":["Gastrointestinal polipoz-ektodermal değişiklikler sendromu","Gastrointestinal polipoz-deri pigmentasyonu-alopesi-el tırnağı değişiklikleri sendromu"]}},"xrefs":[{"source":"OMIM","code":"175500","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D12.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.01","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"79007466"},{"source":"MONDO","code":"0008283","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0282207","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4427","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10062907","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,187]},{"orpha":104010,"name":"Intestinal polyposis syndrome","classifications":[152,156,202,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":500.0,"area":"Worldwide","status":"Validated","source":"25004941[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25004941[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001000","label":"Abnormality of skin pigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008391","label":"Dystrophic fingernails","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001810","label":"Dystrophic toenail","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007440","label":"Generalized hyperpigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004390","label":"Hamartomatous polyposis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001800","label":"Hypoplastic toenails","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200008","label":"Intestinal polyposis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002232","label":"Patchy alopecia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002597","label":"Abnormality of the vasculature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100840","label":"Aplasia/Hypoplasia of the eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004326","label":"Cachexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001004","label":"Lymphedema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002231","label":"Sparse body hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003003","label":"Colon cancer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000224","label":"Decreased taste sensation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000221","label":"Furrowed tongue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002672","label":"Gastrointestinal carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002664","label":"Neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012126","label":"Stomach cancer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Occasional (29-5%)","criteria":null}]}}