{"orpha":86919,"name":"Keratosis palmaris et plantaris-clinodactyly syndrome","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":["Palmoplantar keratoderma-clinodactyly syndrome"],"definition":"Keratosis palmaris et plantaris-clinodactyly syndrome is characterised by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-86919/","orphanet_url":"https://www.orpha.net/en/disease/detail/86919","names":{"fr":{"name":"Syndrome de kératose palmoplantaire-clinodactylie","synonyms":["Syndrome de kératodermie palmoplantaire-clinodactylie"],"definition":"Syndrome de kératose palmoplantaire-clinodactylie est caractérisé par l'association d'une kératose palmo-plantaire et d'une clinodactylie du cinquième doigt. Moins de vingt cas ont été décrits dans la littérature et la majorité des patients atteints était d'origine mexicaine. Le mode de transmission est autosomique dominant."},"de":{"name":"Palmoplantarkeratose-Klinodaktylie-Syndrom","definition":"Dieses Syndrom ist gekennzeichnet durch Palmoplantarkeratose und Klinodaktylie des fünften Fingers."},"es":{"name":"Síndrome de queratosis palmaris et plantaris-clinodactilia","synonyms":["Queratodermia palmoplantar-clinodactilia"],"definition":"Es un síndrome caracterizado por la asociación de queratosis palmoplantar con clinodactilia del quinto dedo de la mano. Hasta la fecha se han notificado menos de 20 casos en la literatura y la mayoría de los pacientes descritos eran de origen mexicano. La transmisión es autosómica dominante."},"it":{"name":"Keratosis palmaris et plantaris - clinodattilia","synonyms":["Cheratoderma palmoplantare - clinodattilia"]},"nl":{"name":"Keratosis palmaris et plantaris - clinodactylie-syndroom","synonyms":["Palmoplantaire keratodermie - clinodactylie-syndroom"],"definition":"Keratosis palmaris et plantaris - clinodactylie-syndroom wordt gekenmerkt door de associatie van palmoplantaire keratose met clinodactylie van vijfde vinger. Tot op heden werden minder dan 20 gevallen beschreven in de literatuur, en de meerderheid van de gerapporteerde patiënten is van Mexicaanse afkomst. Overerving gebeurt autosomaal dominant."},"pt":{"name":"Síndrome de queratose palmar e plantar-clinodactilia","synonyms":["Síndrome de queratoderma palmoplantar-clinodactilia"]},"pl":{"name":"Rogowiec dłoni i stóp - klinodaktylia","synonyms":["Rogowiec dłoniowo-podeszwowy - klinodaktylia"]},"cs":{"name":"Syndrom zahrnující keratosis palmaris et plantaris a klinodaktylii","synonyms":["Syndrom zahrnující palmoplantární keratoderma a klinodaktylii"]},"uk":{"name":"Синдром долонно-підошовного кератозу та клінодактилії","synonyms":["Синдром долонно-підошовної кератодермії-клінодактилії"],"definition":"Keratosis palmaris et plantaris-clinodactyly syndrome is characterised by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant."},"zh":{"name":"掌跖角化病-指弯曲综合征","synonyms":["掌跖角化病-先天性指侧弯综合征"]},"tr":{"name":"Keratoz palmaris et plantaris-klinodaktili sendromu","synonyms":["Palmoplantar keratoderma-klinodaktili sendromu"]}},"xrefs":[{"source":"OMIM","code":"148520","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0007857","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510514","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":98352,"name":"Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature","classifications":[156,187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007447","label":"Diffuse palmoplantar kyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Frequent (79-30%)","criteria":null}]}}