{"orpha":83472,"name":"CAMOS syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome","SCAR5"],"definition":"A disorder that is characterised by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-83472/","orphanet_url":"https://www.orpha.net/en/disease/detail/83472","names":{"fr":{"name":"Syndrome CAMOS","synonyms":["SCAR5","Syndrome d'ataxie cérébelleuse-déficience intellectuelle-atrophie optique-anomalies cutanées"],"definition":"Le syndrome CAMOS est caractérisé par l'association d'une ataxie congénitale non progressive, d'un déficit intellectuel sévère, d'une atrophie optique et d'anomalies structurales des vaisseaux cutanés. Il a été décrit chez cinq enfants appartenant à une grande famille libanaise consanguine. Une petite taille et une microcéphalie ont également été rapportées. Le mode de transmission est autosomique récessif."},"de":{"name":"CAMOS-Syndrom","synonyms":["SCAR5","Zerebelläre Ataxie-Intelligenzminderung-Optikusatrophie-Hautanomalien-Syndrom"]},"es":{"name":"Síndrome CAMOS","synonyms":["SCAR5","Síndrome de ataxia cerebelosa-discapacidad intelectual-atrofia óptica-anomalías cutáneas"],"definition":"Es un trastorno caracterizado por la asociación de ataxia congénita no progresiva, grave discapacidad intelectual, atrofia óptica y anomalías estructurales de los vasos de la piel. Se ha descrito en cinco niños de una familia libanesa con un elevado nivel de consanguinidad. También se asocia con talla baja y microcefalia. La transmisión es autosómica recesiva."},"it":{"name":"Sindrome CAMOS","synonyms":["Atassia cerebellare - deficit cognitivo - atrofia ottica - anomalie cutanee","SCAR5","Sindrome atassia cerebellare-deficit cognitivo-atrofia ottica-anomalie cutanee"]},"nl":{"name":"CAMOS-syndroom","synonyms":["Cerebellaire ataxie - intellectuele achterstand - opticusatrofie - huidafwijkingen-syndroom","SCAR5"],"definition":"Een aandoening gekarakteriseerd door de associatie van een niet-progressieve congenitale ataxie, ernstige intellectuele achterstand, opticusatrofie en structurele anomalieën van huidvaten. Het werd beschreven bij vijf kinderen van een grote bloedverwante Libanese familie. Kleine gestalte en microcefalie werden ook gerapporteerd. De overdracht gebeurt autosomaal recessief."},"pt":{"name":"Síndrome CAMOS","synonyms":["SCAR5","Síndrome de ataxia cerebelosa-perturbação do desenvolvimento intelectual-atrofia óptica-alterações cutâneas"]},"pl":{"name":"Zespół CAMOS","synonyms":["Ataksja móżdżkowa - niepełnosprawność intelektualna - zanik nerwu wzrokowego - nieprawidłowości skóry","SCAR5"]},"cs":{"name":"CAMOS syndrom","synonyms":["Syndrom zahrnující cerebelární ataxii, mentální retardaci, optickou atrofii a kožní abnormality","SCAR5"]},"uk":{"name":"Синдром CAMOS","synonyms":["Синдром мозочкової атаксії - інтелектуальної недостатності - атрофії зорового нерва - аномалій шкіри","SCAR5"],"definition":"A disorder that is characterised by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive."},"zh":{"name":"CAMOS综合征","synonyms":["小脑共济失调-智力障碍-视神经萎缩-皮肤异常综合征"]},"tr":{"name":"CAMOS sendromu","synonyms":["SCAR5","Serebellar ataksi-zihinsel yetersizlik-optik atrofi-deri anormallikleri sendromu"]}},"xrefs":[{"source":"OMIM","code":"606937","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019374","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4511633","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9977","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98095,"name":"Autosomal recessive congenital cerebellar ataxia","classifications":[156,181]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":441434,"name":"Syndromic hereditary optic neuropathy","classifications":[156,189]}],"children":[],"genes":[{"symbol":"ZNF592","name":"zinc finger protein 592","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"20531441[PMID]_26123727[PMID]","hgnc":"28986","ensembl":"ENSG00000166716","omim":"613624","loci":["15q25.3"]},{"symbol":"WDR73","name":"WD repeat domain 73","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26123727[PMID]","hgnc":"25928","ensembl":"ENSG00000177082","omim":"616144","loci":["15q25.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"11391656[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_11391656[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-11-22","source":"20531441[PMID]_26070982[PMID]","terms":[{"hpo":"HP:0000951","label":"Abnormality of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007360","label":"Aplasia/Hypoplasia of the cerebellum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007153","label":"Progressive extrapyramidal movement disorder","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012444","label":"Brain atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000100","label":"Nephrotic syndrome","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Frequent (79-30%)","criteria":null}]}}