{"orpha":1106,"name":"Microphthalmia with limb anomalies","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Anophthalmia-syndactyly syndrome","OAS","Ophthalmoacromelic syndrome","Waardenburg anophthalmia syndrome"],"definition":"A rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1106/","orphanet_url":"https://www.orpha.net/en/disease/detail/1106","names":{"fr":{"name":"Microphtalmie avec anomalie des membres","synonyms":["OAS","Syndrome d'anophtalmie de Waardenburg","Syndrome d'anophtalmie-syndactylie","Syndrome ophtalmo-acromélique"],"definition":"La microphtalmie avec anomalies des membres, aussi connue sous le nom de syndrome ophtalmo-acromélique est un trouble rare du développement caractérisé par une microphtalmie ou une anophtalmie bilatérale, une synostose, une syndactylie, une oligodactylie et/ou une polydactylie."},"de":{"name":"Mikrophthalmie mit Gliedmaßenanomalien","synonyms":["Anophthalmie mit Anomalien der Gliedmaßen","Anophthalmie-Syndaktylie-Syndrom","OAS","Opthalmo-akromeles Syndrom","Waardenburg-Anophthalmie-Syndrom"]},"es":{"name":"Microftalmia con anomalías de las extremidades","synonyms":["OAS","Síndrome anoftalmia-sindactilia","Síndrome de anoftalmia de Waardenburg","Síndrome oftalmo-acromélico"],"definition":"Es un trastorno raro del desarrollo que se caracteriza por microftalmia bilateral o anoftalmia, sinostosis, sindactilia, oligodactilia y/o polidactilia."},"it":{"name":"Microftalmia con anomalie degli arti","synonyms":["OAS","Sindrome anoftalmia-sindattilia","Sindrome da anoftalmia di Waardenburg","Sindrome oftalmo-acromelica"],"definition":"La microftalmia con anomalie degli arti, nota anche come sindrome oftalmo-acromelica (OAS), è un difetto raro dello sviluppo caratterizzato da microftalmia bilaterale o anoftalmia, sinostosi, sindattilia, oligodattilia e/o polidattilia."},"nl":{"name":"Microftalmie met ledemaatanomalieën","synonyms":["Anoftalmie - syndactylie-syndroom","OAS","Oftalmoacromelisch syndroom","Waardenburg anoftalmiesyndroom"],"definition":"Een zeldzame ontwikkelingsstoornis gekarakteriseerd door bilaterale microftalmie of anoftalmie, synostose, syndactylie, oligodactylie en/of polydactylie."},"pt":{"name":"Microftalmia com anomalias dos membros","synonyms":["Síndrome oftalmo-acromélico"]},"pl":{"name":"Małoocze i wady kończyn","synonyms":["Anoftalmia - syndaktylia","OAS","Zespół anoftalmii Waardenburga","Zespół oczno-kończynowy"]},"cs":{"name":"Mikroftalmie s anomáliemi končetin","synonyms":["Syndrom zahrnující anoftalmii a syndaktylii","OAS","Oftalmoakromelický syndrom","Syndrom Waardenburgovy anoftalmie"]},"uk":{"name":"Мікрофтальмія з аномаліями кінцівок","synonyms":["Синдром анофтальмії-синдактилії","OAS","Офтальмоакромелічний синдром","Синдром анофтальмії Ваарденбурга"],"definition":"A rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly."},"zh":{"name":"小眼畸形伴肢体异常","synonyms":["Waardenburg无眼综合征"]},"tr":{"name":"Ekstremite anomalileri ile seyreden mikroftalmi","synonyms":["OAS","Oftalmokromelik sendrom","Anoftalmi-sindaktili sendromu","Waardenburg anoftalmi sendromu"]}},"xrefs":[{"source":"OMIM","code":"206920","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD21.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1788103611"},{"source":"MONDO","code":"0008800","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537769","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0599973","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"722","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"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":202948,"name":"Syndromic microphthalmia-anophthalmia-coloboma","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"SMOC1","name":"SPARC related modular calcium binding 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"20318","ensembl":"ENSG00000198732","omim":"608488","loci":["14q24.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":35.0,"area":"Worldwide","status":"Validated","source":"21750680[PMID]_21194680[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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000534","label":"Abnormal eyebrow morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005916","label":"Abnormal metacarpal morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002814","label":"Abnormality of the lower limb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002817","label":"Abnormality of the upper limb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001852","label":"Sandal gap","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005048","label":"Synostosis of carpal bones","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100240","label":"Synostosis of joints","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011478","label":"True anophthalmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001172","label":"Abnormal thumb morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001215","label":"Camptodactyly of 2nd-5th fingers","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000204","label":"Cleft upper lip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003038","label":"Fibular hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009380","label":"Finger aplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001849","label":"Foot oligodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009748","label":"Large earlobe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001162","label":"Postaxial hand polydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003026","label":"Short long bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005736","label":"Short tibia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008368","label":"Tarsal synostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002982","label":"Tibial bowing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002139","label":"Arrhinencephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006487","label":"Bowing of the long bones","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001522","label":"Death in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003042","label":"Elbow dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002827","label":"Hip dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000085","label":"Horseshoe kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010650","label":"Hypoplasia of the premaxilla","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001572","label":"Macrodontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001830","label":"Postaxial foot polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000233","label":"Thin vermilion border","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005293","label":"Venous insufficiency","frequency":"Occasional (29-5%)","criteria":null}]}}