{"orpha":79149,"name":"Dermochondrocorneal dystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["François syndrome"],"definition":"Dermochondrocorneal dystrophy is characterised by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on the posterior surface of the elbow. Gingival lesions may also be present. It has been described in less than 20 patients. Transmission is autosomal recessive.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79149/","orphanet_url":"https://www.orpha.net/en/disease/detail/79149","names":{"fr":{"name":"Dystrophie dermo-chondro-cornéenne","synonyms":["Syndrome de François"],"definition":"La dystrophie dermo-chondro-cornéenne est caractérisée par une ostéochondrodystrophie des mains et des pieds, une dystrophie cornéenne et la présence de nodules cutanés regroupés autour des articulations métacarpophalangiennes et interphalangiennes, autour du nez, des oreilles, et sur la face postérieure du coude. Des lésions gingivales peuvent également être présentes. Il a été décrit chez moins de 20 patients. Le mode de transmission est autosomique récessif."},"de":{"name":"Dystrophie, dermo-chondro-corneale","synonyms":["Francois-Syndrom"],"definition":"Die Dermo-chondro-corneale Dystrophie ist gekennzeichnet durch Osteo-chondrodystrophie der Hände und Füße, Korneadystrophie und Hautknötchen,die gruppiert im Bereich der Metacarpo-phalangeal- und Interphalangealgelenke, um Nase und Ohren herum und auf der Ellenbogen-Streckseite auftreten. Auch die Gingiva kann betroffen sein."},"es":{"name":"Distrofia dermo-condro-coneal","synonyms":["Síndrome de François"],"definition":"Es un trastorno caracterizado por osteocondrodistrofia de las manos y de los pies, distrofia corneal y presencia de nódulos en la piel agrupados alrededor de las articulaciones metacarpofalángicas e interfalángicas de la nariz y de las orejas, así como en la parte posterior del codo. Los pacientes también pueden presentar lesiones gingivales. El trastorno se ha descrito en menos de 20 pacientes. La herencia es autosómica recesiva."},"it":{"name":"Distrofia dermo-condro-corneale","synonyms":["Sindrome di François"]},"nl":{"name":"Dermochondrocorneale dystrofie","synonyms":["Syndroom van Francois"],"definition":"Dermochondrocorneale dystrofie wordt gekenmerkt door osteochondrodystrofie van handen en voeten, corneadystrofie, en aanwezigheid van noduli van huid die zijn gegroepeerd rond metacarpofalangeale en interfalangeale gewrichten, rond neus en oren, en op posterieur oppervlak van elleboog. Gingivale laesies kunnen ook aanwezig zijn. Het werd beschreven bij minder dan 20 patiënten. Transmissie gebeurt autosomaal recessief."},"pt":{"name":"Distrofia dermocondro-corneana","synonyms":["Síndrome François"]},"pl":{"name":"Dystrofia skórno-chrzęstno-rogówkowa","synonyms":["Zespół Françoisa"]},"cs":{"name":"Dermochondrokorneální dystrofie","synonyms":["Françoisův syndrom"]},"uk":{"name":"Дермохондрокорнеальна дистрофія","synonyms":["Синдром Франсуа"],"definition":"Dermochondrocorneal dystrophy is characterised by osteochondrodystrophy of the hands and feet, corneal dystrophy and the presence of skin nodules clustered around the metacarpophalangeal and interphalangeal joints, around the nose and ears and on the posterior surface of the elbow. Gingival lesions may also be present. It has been described in less than 20 patients. Transmission is autosomal recessive."},"zh":{"name":"皮肤软骨角膜营养不良","synonyms":["François综合征"]},"tr":{"name":"Dermokondrokorneal distrofi","synonyms":["François sendromu"]}},"xrefs":[{"source":"OMIM","code":"221800","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L98.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EC4Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1305138145"},{"source":"MONDO","code":"0009094","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535375","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0432288","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1815","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":79381,"name":"Other dermis disorder","classifications":[187]},{"orpha":477808,"name":"Other genetic dermis disorder","classifications":[156]},{"orpha":98628,"name":"Syndromic corneal dystrophy","classifications":[156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26440764[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":15.0,"area":"Worldwide","status":"Validated","source":"26440764[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-04-20","source":"20574610(PMID]","terms":[{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001155","label":"Abnormality of the hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001131","label":"Corneal dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001176","label":"Large hands","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000991","label":"Xanthomatosis","frequency":"Very frequent (99-80%)","criteria":null}]}}