{"orpha":2492,"name":"FATCO syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Fibular aplasia-tibial campomelia-oligosyndactyly syndrome","Hecht-Scott syndrome"],"definition":"A rare, genetic, congenital limb malformation syndrome characterized by unilateral or bilateral fibular aplasia/hypoplasia, tibial campomelia, and lower limb oligosyndactyly involving the lateral rays. Upper limb oligosyndactyly and cleft lip/palate may also be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2492/","orphanet_url":"https://www.orpha.net/en/disease/detail/2492","names":{"fr":{"name":"Syndrome FATCO","synonyms":["Syndrome d'aplasie fibulaire-campomélie tibiale-oligosyndactylie","Syndrome de Hecht-Scott"],"definition":"Syndrome rare d'anomalie congénitale des membres, d'origine génétique, caractérisé par une aplasie/hypoplasie unilatérale ou bilatérale du péroné, une campomélie tibiale et une oligosyndactylie des membres inférieurs affectant les rayons latéraux. Une oligosyndactylie des membres supérieurs et une fente labiopalatine peuvent également être associées."},"de":{"name":"FATCO-Syndrom","synonyms":["Fibula-Aplasie-Tibiale Kampomelie-Oligosyndaktylie-Syndrom","Hecht-Scott-Syndrom"]},"es":{"name":"Síndrome FATCO","synonyms":["Síndrome de Hecht-Scott","Síndrome de aplasia fibular-campomelia tibial-oligosindactilia","Síndrome de defecto transversal en las extremidades-anomalía cardíaca"],"definition":"Es un síndrome poco frecuente de origen genético por malformación congénita de las extremidades caracterizado por aplasia / hipoplasia fibular uni- o bilateral, campomelia de tibia y oligosindactilia de las extremidades inferiores que afecta a los rayos laterales. También se pueden asociar oligosindactilia de las extremidades superiores y labio leporino / paladar hendido."},"it":{"name":"Sindrome FATCO","definition":"È una malformazione congenita rara degli arti, di origine genetica, caratterizzata da aplasia/ipoplasia monolaterale o bilaterale del perone, campomelia della tibia e oligosindattilia degli arti inferiori che interessa i raggi laterali. Possono associarsi oligosindattilia degli arti superiori e labio/palatoschisi."},"nl":{"name":"FATCO-syndroom","synonyms":["Aplasie van fibula - tibiale campomelie - oligosyndactylie-syndroom","Syndroom van Hecht-Scott"],"definition":"Een zeldzaam, genetisch, congenitaal malformatiesyndroom van de ledematen dat gekarakteriseerd wordt door unilaterale of bilaterale aplasie/hypoplasie van het kuitbeen, tibiale campomelie, en oligosyndactylie van de onderste ledematen met betrekking van de laterale stralen. Oligosyndactylie van de bovenste ledematen en gespleten lip/verhemelte kunnen ook geassocieerd zijn."},"pt":{"name":"Síndrome FATCO","synonyms":["Síndrome Hecht-Scott","Síndrome de aplasia fibular-campomelia da tíbia-oligosindactilia"]},"pl":{"name":"Wady poprzeczne kończyn - wada serca","synonyms":["Zespół Hecht i Scotta"]},"cs":{"name":"Syndrom zahrnující transverzální defekt končetin a anomálii srdce","synonyms":["Hechtové-Scottův syndrom","Hecht-Scottův syndrom"]},"uk":{"name":"Синдром FATCO","synonyms":["Синдром фібулярної аплазії-кампомелії великогомілкової кістки-олігосиндактилії","Синдром Гехта-Скотта"],"definition":"A rare, genetic, congenital limb malformation syndrome characterized by unilateral or bilateral fibular aplasia/hypoplasia, tibial campomelia, and lower limb oligosyndactyly involving the lateral rays. Upper limb oligosyndactyly and cleft lip/palate may also be associated."},"zh":{"name":"FACTO综合征","synonyms":["腓骨发育不全-胫骨弯曲-简单并指综合征"]},"tr":{"name":"FATCO sendromu","synonyms":["Hecht-Scott sendromu","Fibular aplazi-tibial kampomeli-oligosindaktili sendromu"]}},"xrefs":[{"source":"OMIM","code":"246570","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MeSH","code":"C565436","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1855499","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2622","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":480773,"name":"OBSOLETE: Fibular aplasia-tibial campomelia-oligosyndactyly syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":404574,"name":"Genetic syndrome with limb reduction defects","classifications":[156]},{"orpha":294959,"name":"Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy","classifications":[147,156,199]},{"orpha":294955,"name":"Syndrome with limb reduction defects","classifications":[147,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":22.0,"area":"Worldwide","status":"Validated","source":"DOI:10.15520.v3i12.33[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_DOI:10.15520.v3i12.33[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002991","label":"Abnormal fibula morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002992","label":"Abnormality of tibia morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004050","label":"Absent hand","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001626","label":"Abnormality of the cardiovascular system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001171","label":"Split hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008368","label":"Tarsal synostosis","frequency":"Frequent (79-30%)","criteria":null}]}}