{"orpha":91494,"name":"Macular coloboma-cleft palate-hallux valgus syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"Macular coloboma-cleft palate-hallux valgus syndrome is characterised by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-91494/","orphanet_url":"https://www.orpha.net/en/disease/detail/91494","names":{"fr":{"name":"Syndrome de colobome maculaire-fente palatine-hallux valgus","definition":"Le syndrome de colobome maculaire-fente palatine-hallux valgus est caractérisé par l'association d'un colobome maculaire bilatéral, d'une fente palatine, et d'un hallux valgus. Il a été décrit chez un frère et sa soeur. Des anomalies du bassin, des membres et des doigts ont également été rapportées. Le mode de transmission est autosomique récessif."},"de":{"name":"Makulakolobom-Gaumenspalte-Hallux valgus-Syndrom","definition":"Das Syndrom ist gekennzeichnet durch beidseitiges Makulakolobom, Gaumenspalte und Hallux valgus."},"es":{"name":"Síndrome de coloboma macular-paladar hendido-hallux valgus","definition":"Es un síndrome caracterizado por la asociación de coloboma macular bilateral, paladar hendido y hallux valgus. Se ha descrito en un hermano y una hermana. También se notificaron anomalías pélvicas, de las extremidades y digitales. La transmisión es autosómica recesiva."},"it":{"name":"Sindrome coloboma maculare-palatoschisi-alluce valgo"},"nl":{"name":"Maculacoloboom - gespleten gehemelte - hallux valgus-syndroom","definition":"Maculacoloboom - gespleten gehemelte - hallux valgus-syndroom wordt gekenmerkt door de associatie van bilateraal maculacoloboom, gespleten gehemelte, en hallux valgus. Het werd beschreven bij een broer en zus. Anomalieën van bekken, ledematen en digiti werden ook gerapporteerd. Transmissie gebeurt autosomaal recessief."},"pt":{"name":"Síndrome de coloboma macular-fenda palatina-hallux valgus"},"pl":{"name":"Szczelina plamki - rozszczep podniebienia - paluch koślawy"},"cs":{"name":"Syndrom zahrnující makulární kolobom, rozštěp patra a hallux valgus"},"uk":{"name":"Синдром макулярної колобоми-розщілини піднебіння-hallux valgus","definition":"Macular coloboma-cleft palate-hallux valgus syndrome is characterised by the association of bilateral macular coloboma, cleft palate, and hallux valgus. It has been described in a brother and sister. Pelvic, limb and digital anomalies were also reported. Transmission is autosomal recessive."},"zh":{"name":"黄斑缺损-腭裂-拇外翻综合征","definition":"黄斑缺损-腭裂-拇外翻综合征的特征是与双侧黄斑缺损，颚裂和拇外翻相关，该病曾在两个异性同胞中报道，同时还报告了骨盆、肢体和指骨的异常。该病呈常染色体隐性遗传。"},"tr":{"name":"Maküler kolobom-yarık damak-halluks valgus sendromu"}},"xrefs":[{"source":"OMIM","code":"216800","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009001","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4302525","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98553,"name":"Developmental defect of the eye","classifications":[147]},{"orpha":183557,"name":"Genetic developmental defect of the eye","classifications":[156]},{"orpha":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]},{"orpha":716427,"name":"Rare disorder with progressive predominantly macular disorder as a major feature","classifications":[156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"4977272[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_4977272[PMID]"}],"phenotypes":null}