{"orpha":1458,"name":"CODAS syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Cerebrooculodentoauriculoskeletal syndrome"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by the co-occurrence of Cerebral, Ocular, Dental, Auricular and Skeletal anomalies (acronym CODAS). CODAS syndrome was first reported and named in 1991. As more patients were described, the phenotype was found to be highly variable; patients do not always present with all the aforementioned features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1458/","orphanet_url":"https://www.orpha.net/en/disease/detail/1458","names":{"fr":{"name":"Syndrome CODAS","synonyms":["Syndrome cérébrooculodentoauriculosquelettique"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare caractérisé par l'association d'anomalies cérébrales, oculaires, dentaires, auriculaires et squelettiques (acronyme CODAS). Le syndrome CODAS a été décrit et nommé pour la première fois en 1991. Au fur et à mesure que le nombre de patients décrits augmentait, le phénotype s'avérait de plus en plus variable, les patients ne présentant pas toujours toutes les caractéristiques susmentionnées."},"de":{"name":"CODAS-Syndrom","synonyms":["Zerebro-okulo-dento-aurikulo-skelettales Syndrom"],"definition":"Ein seltenes Syndrom mit multiplen kongenitalen Anomalien/Dysmorphien, das durch das gleichzeitige Auftreten von zerebralen, okulären, dentalen, aurikulären und skelettalen Anomalien gekennzeichnet ist (Akronym CODAS). Das CODAS-Syndrom wurde erstmals 1991 beschrieben und benannt. Als immer mehr Patienten beschrieben wurden, stellte sich heraus, dass der Phänotyp sehr variabel ist; die Patienten weisen nicht immer alle der oben genannten Merkmale auf."},"es":{"name":"Síndrome CODAS","synonyms":["Síndrome cerebro-óculo-dento-auriculo-esquelético"],"definition":"Es un síndrome dismórfico/ de múltiples anomalías congénitas poco frecuente caracterizado por la coexistencia de anomalías cerebrales, oculares, dentales, auriculares y esqueléticas (siglas en inglés: CODAS). El síndrome CODAS se describió y denominó por primera vez en 1991. A medida que se describían más pacientes, se observó una elevada variabilidad fenotípica; no obstante, los pacientes no siempre presentan todas las características mencionadas."},"it":{"name":"Sindrome CODAS","synonyms":["Sindrome cerebro-oculo-dento-auricolo-scheletrica"]},"nl":{"name":"CODAS-syndroom","synonyms":["Cerebro-oculodentoauriculoskeletaal syndroom"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekenmerkt dor gelijktijdig optreden van Cerebrale, Oculaire, Dentale, Auriculaire en Skeletale anomalieën (acroniem CODAS). CODAS-syndroom werd voor het eerst gerapporteerd en benoemd in 1991. Naarmate meer patiënten werden beschreven, bleek het fenotype zeer variabel; patiënten vertonen niet altijd alle eerder genoemde kenmerken."},"pt":{"name":"Síndrome CODAS","synonyms":["Síndrome cerebro-óculo-dento-auriculo-ósseo"]},"pl":{"name":"Zespół CODAS","synonyms":["Zespół mózgowo-oczno-zębowo-uszno-szkieletowy"],"definition":"Rzadki zespół mnogich wad wrodzonych / zespół dysmorficzny charakteryzujący się współwystępowaniem wad mózgu, oczu, zębów, uszu i kości (akronim CODAS, od Cerebral, Ocular, Dental, Auricular and Skeletal). Zespół CODAS został po raz pierwszy opisany i nazwany w 1991 r. Po opisaniu większej liczby pacjentów stwierdzono, że fenotyp jest bardzo zmienny; nie wszystkie wymienione objawy występują u poszczególnych pacjentów."},"cs":{"name":"CODAS syndrom","synonyms":["Cerebrookulodentoaurikuloskeletální syndrom"]},"uk":{"name":"Синдром CODAS","synonyms":["Цереброокулодентоаурикулоскелетний синдром"],"definition":"Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies."},"zh":{"name":"CODAS综合征","synonyms":["脑-眼-牙-耳-骨骼综合征"]},"tr":{"name":"CODAS sendromu","synonyms":["Serebrookülodentoauriküloskeletal sendrom"]}},"xrefs":[{"source":"OMIM","code":"600373","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010879","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536434","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1838180","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1418","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":253,"name":"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","classifications":[147,156,199]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[{"symbol":"LONP1","name":"lon peptidase 1, mitochondrial","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25574826[PMID]","hgnc":"9479","ensembl":"ENSG00000196365","omim":"605490","loci":["19p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":26.0,"area":"Worldwide","status":"Validated","source":"25574826[PMID]_20503327[PMID]_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:0006482","label":"Abnormal dental morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003417","label":"Coronal cleft vertebrae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009901","label":"Crumpled ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004122","label":"Midline defect of the nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000396","label":"Overfolded helix","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010049","label":"Short metacarpal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002644","label":"Abnormality of pelvic girdle bone morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001374","label":"Congenital hip dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001600","label":"Abnormality of the larynx","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005242","label":"Extrahepatic biliary duct atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000072","label":"Hydroureter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null}]}}