{"orpha":3194,"name":"Corneodermatoosseous syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["CDO syndrome","Stern-Lubinsky-Durrie syndrome"],"definition":"A rare, genetic, ectodermal dysplasia syndrome characterized by corneal epithelial changes (ranging from roughening to nodular irregularities), diffuse palmoplantar hyperkeratosis with thickened, erythematous, scaly lesions affecting the elbows, knees and knuckles, distal onycholysis, brachydactyly accompanied by a single transverse palmar crease, short stature, premature birth, and increased susceptibility to tooth decay. Ocular symptoms include photophobia, reduced night vision, burning and watery eyes, and varying visual acuity. There have been no further descriptions in the literature since 1984.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3194/","orphanet_url":"https://www.orpha.net/en/disease/detail/3194","names":{"fr":{"name":"Syndrome cornéodermatoosseux","synonyms":["Syndrome CDO","Syndrome de Stern-Lubinsky-Durrie"],"definition":"Syndrome de dysplasie ectodermique rare, d'origine génétique, caractérisé par des anomalies de l'épithélium cornéen (allant d'une rugosité à des irrégularités nodulaires), une hyperkératose palmoplantaire diffuse avec lésions squameuses, érythémateuses et épaisses affectant les coudes, les genoux et les articulations des doigts, ainsi que par une onycholyse distale, une brachydactylie accompagnée d'un pli palmaire transverse unique, une petite taille, une naissance prématurée et une prédisposition accrue aux caries. Les symptômes oculaires sont photophobie, diminution de la vision nocturne, brûlure et larmoiement et variation de l'acuité visuelle. Aucun cas n'a été décrit dans la littérature depuis 1984."},"de":{"name":"Korneo-dermato-ossäres-Syndrom","synonyms":["CDO-Syndrom","Stern-Lubinsky-Durrie-Syndrom"],"definition":"Ein seltenes Syndrom aus dem Formenkreis der Ektodermalen Dysplasien, das durch Hornhautepithelveränderungen (von Aufrauung bis hin zu knotigen Unregelmäßigkeiten), diffuse palmoplantare Hyperkertose mit verdickten, erythematösen, schuppigen Läsionen an Ellbogen, Knien und Knöcheln, distale Onycholyse, Brachydaktylie mit einer einzigen transversalen Handfalte, Kleinwuchs, Frühgeburtlichkeit und erhöhte Anfälligkeit für Karies gekennzeichnet ist. Zu den okulären Symptomen gehören Photophobie, verminderte Nachtsicht, brennende und tränende Augen und eine schwankende Sehschärfe. Seit 1984 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome corneo-dermato-óseo","synonyms":["Síndrome CDO","Síndrome de Stern-Lubinsky-Durrie"],"definition":"Es una displasia ectodérmica genética y poco frecuente caracterizada por cambios en el epitelio corneal (que varían desde rugosidad hasta irregularidades nodulares), hiperqueratosis palmoplantar difusa con lesiones descamativas, eritematosas y engrosadas que afectan a codos, rodillas y nudillos, onicólisis distal, braquidactilia acompañada de un pliegue palmar transversal único, talla baja, parto prematuro y una mayor susceptibilidad a caries dentales. Los síntomas oculares incluyen fotofobia, visión nocturna reducida, escozor y ojos llorosos, y agudeza visual variable. No ha habido más casos descritos en la literatura desde 1984."},"it":{"name":"Sindrome corneo-dermo-ossea","synonyms":["Sindrome di Stern-Lubinsky-Durrie"],"definition":"È una displasia ectodermica rara, di origine genetica, caratterizzata da alterazioni epiteliali della cornea (dall'irruvidimento fino alle irregolarità nodulari), ipercheratosi palmoplantare diffusa associata a lesioni desquamative eritematose ispessite che interessano i gomiti, le ginocchia e le nocche, onicolisi distale, brachidattilia con piega palmare unica, bassa statura, nascita prematura e predisposizione alle carie. I sintomi oculari comprendono la fotofobia, la riduzione della visione notturna, il bruciore oculare e l'eccessiva lacrimazione, e un'acuità visiva di grado variabile. Non sono stati descritti nuovi casi dopo il 1984."},"nl":{"name":"Corneodermato-ossaal syndroom","synonyms":["CDO-syndroom","Syndroom van Stern-Lubinsky-Durrie"],"definition":"Een zeldzame, genetische, syndromale ectodermale dysplasie die gekarakteriseerd wordt door veranderingen aan het epitheel van het hoornvlies (gaande van verruwing tot nodulaire onregelmatigheden), diffuse palmoplantaire hyperkeratose met verdikte, erythemateuze, schilferige laesies aan ellebogen, knieën en knokkels, distale onycholyse, brachydactylie vergezeld van een enkelvoudige transversale handlijn op de handpalm, kleine gestalte, premature geboorte, en verhoogde susceptibiliteit voor tandbederf. Oculaire symptomen zijn onder meer fotofobie, verminderd nachtzicht, branderige en waterige ogen, en variërende gezichtsscherpte. Sinds 1984 verschenen er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome corneo-dermato-ósseo","synonyms":["Síndrome CDO","Síndrome Stern-Lubinsky-Durrie"]},"pl":{"name":"Zespół Sterna, Lubinsky'ego i Durrie","synonyms":["Zespół rogówkowo-skórno-kostny"]},"cs":{"name":"Sternův-Lubinského-Durrieův syndrom","synonyms":["Korneodermatooseální syndrom","Stern-Lubinsky-Durrieův syndrom"]},"uk":{"name":"Корнеодерматооссальний синдром","synonyms":["Синдром CDO","Синдром Штерна-Любінського-Дуррі"],"definition":"A rare, genetic, ectodermal dysplasia syndrome characterized by corneal epithelial changes (ranging from roughening to nodular irregularities), diffuse palmoplantar hyperkeratosis with thickened, erythematous, scaly lesions affecting the elbows, knees and knuckles, distal onycholysis, brachydactyly accompanied by a single transverse palmar crease, short stature, premature birth, and increased susceptibility to tooth decay. Ocular symptoms include photophobia, reduced night vision, burning and watery eyes, and varying visual acuity. There have been no further descriptions in the literature since 1984."},"zh":{"name":"角膜皮肤骨综合征","synonyms":["Stern-Lubinsky-Durrie综合征"]},"tr":{"name":"Korneodermatoosseöz sendrom","synonyms":["CDO sendromu","Stern-Lubinsky-Durrie sendromu"]}},"xrefs":[{"source":"OMIM","code":"122440","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H18.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1754695879"},{"source":"MONDO","code":"0007383","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536444","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1852542","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1531","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":[147,156,187]},{"orpha":98628,"name":"Syndromic corneal dystrophy","classifications":[156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"6234802[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6234802[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-09-12","source":null,"terms":[{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001817","label":"Absent fingernail","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001131","label":"Corneal dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000982","label":"Palmoplantar keratoderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001072","label":"Thickened skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001167","label":"Abnormality of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001155","label":"Abnormality of the hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000230","label":"Gingivitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012047","label":"Hemeralopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000662","label":"Nyctalopia","frequency":"Occasional (29-5%)","criteria":null}]}}