{"orpha":90354,"name":"Brittle cornea syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Ehlers-Danlos syndrome type 6B"],"definition":"A rare, hereditary connective tissue disease characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, often leading to irreversible blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90354/","orphanet_url":"https://www.orpha.net/en/disease/detail/90354","names":{"fr":{"name":"Syndrome de la cornée fragile","synonyms":["Syndrome d'Ehlers-Danlos type 6B"],"definition":"Maladie héréditaire rare du tissu conjonctif, caractérisée par des symptômes oculaires graves dus à un amincissement et à une fragilité extrêmes de la cornée, associés à sa rupture en l'absence de traumatisme important, conduisant souvent à une cécité irréversible. Les symptômes extra-oculaires comprennent une surdité, une dysplasie de la hanche et une hypermobilité articulaire."},"de":{"name":"Brittle-Cornea-Syndrom","synonyms":["Ehlers-Danlos-Syndrom Typ 6B"],"definition":"Eine seltene erbliche Bindegewebserkrankung, die durch schwere Augenmanifestationen gekennzeichnet ist. Diese äußern sich in extremer Hornhautverdünnung mit Fragilität und Rissen, die in Abwesenheit eines signifikanten Traumas auftreten und bei Fortschreiten der Krankheit zur Erblindung führen können. Extraokulare Manifestationen umfassen Taubheit, entwicklungsbedingte Hüftdysplasie und Gelenkhypermobilität."},"es":{"name":"Síndrome de córnea frágil","synonyms":["Síndrome de Ehlers-Danlos tipo 6B"],"definition":"Es una enfermedad del tejido conectivo, hereditaria y poco frecuente, caracterizada por manifestaciones oculares graves debidas a un adelgazamiento y fragilidad corneal extrema acompañadas de ruptura, en ausencia de un traumatismo importante, que a menudo resulta en ceguera irreversible. Las manifestaciones extra-oculares comprenden pérdida auditiva, displasia del desarrollo de la cadera e hipermovilidad articular."},"it":{"name":"Sindrome della cornea fragile","synonyms":["Sindrome di Ehlers-Danlos tipo 6B"],"definition":"Si tratta di una malattia ereditaria rara del tessuto connettivo, caratterizzata da sintomi oculari gravi, dovuti all'estremo assottigliamento e fragilità della cornea, associati alla sua rottura, in assenza di traumi significativi. Spesso la malattia esita nella cecità irreversibile. I sintomi extraoculari comprendono la sordità, la displasia dell'anca e l'ipermobilità articolare."},"nl":{"name":"Brittle cornea-syndroom","synonyms":["Syndroom van Ehlers-Danlos type 6B"],"definition":"Een zeldzame, erfelijke bindweefselziekte, gekarakteriseerd door ernstige oculaire manifestaties als gevolg van extreme verdunning en broosheid van hoornvlies, dat scheuren vertoont zonder aanwezigheid van significant trauma, en vaak met onomkeerbare blindheid tot gevolg. Extraoculaire manifestaties omvatten doofheid, congenitale dysplasie van heup, en gewrichtshypermobiliteit."},"pt":{"name":"Síndrome da córnea frágil","synonyms":["Síndrome Ehlers-Danlos tipo 6B"]},"pl":{"name":"Zespół kruchej rogówki","synonyms":["Ehlers-Danlos syndrome type 6B"]},"cs":{"name":"Syndrom křehkých rohovek","synonyms":["Ehlers-Danlos syndrome type 6B"]},"uk":{"name":"Синдром крихкої рогівки","synonyms":["Синдром Елерса-Данлоса, тип 6B"],"definition":"A rare, hereditary connective tissue disease characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, often leading to irreversible blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility."},"zh":{"name":"脆性角膜综合征"},"tr":{"name":"Brittle kornea sendromu"}},"xrefs":[{"source":"OMIM","code":"229200","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"614170","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q79.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD28.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1804721048"},{"source":"MONDO","code":"0009242","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268344","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1019","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":98249,"name":"Ehlers-Danlos syndrome","classifications":[147,156,187,196]},{"orpha":98628,"name":"Syndromic corneal dystrophy","classifications":[156,189]}],"children":[],"genes":[{"symbol":"PRDM5","name":"PR/SET domain 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21664999[PMID]","hgnc":"9349","ensembl":"ENSG00000138738","omim":"614161","loci":["4q27"]},{"symbol":"ZNF469","name":"zinc finger protein 469","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19661234[PMID]_20938016[PMID]","hgnc":"23216","ensembl":"ENSG00000225614","omim":"612078","loci":["16q24.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":65.0,"area":"Worldwide","status":"Validated","source":"14679583[PMID]_17122114[PMID]"},{"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":"2026-04-08","source":"40647596[PMID]_33739556[PMID]_33739556[PMID]_28306229[PMID]_23642083[PMID]","terms":[{"hpo":"HP:0000592","label":"Blue sclerae","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100583","label":"Corneal perforation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100689","label":"Decreased corneal thickness","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011003","label":"High myopia","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000974","label":"Hyperextensible skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000563","label":"Keratoconus","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001119","label":"Keratoglobus","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000977","label":"Soft skin","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000978","label":"Bruising susceptibility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012385","label":"Camptodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030009","label":"Cervical insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001374","label":"Congenital hip dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200020","label":"Corneal erosion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000559","label":"Corneal scarring","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010648","label":"Dermal translucency","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0012785","label":"Flexion contracture of finger","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001822","label":"Hallux valgus","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0100790","label":"Hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002659","label":"Increased susceptibility to fractures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001373","label":"Joint dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001634","label":"Mitral valve prolapse","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Occasional (29-5%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0001058","label":"Poor wound healing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001788","label":"Premature rupture of membranes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000485","label":"Megalocornea","frequency":"Very rare (<4-1%)","criteria":null}]}}