{"orpha":1986,"name":"Gollop-Wolfgang complex","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Bifid femur-monodactylous ectrodactyly syndrome"],"definition":"A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1986/","orphanet_url":"https://www.orpha.net/en/disease/detail/1986","names":{"fr":{"name":"Complexe de Gollop-Wolfgang","synonyms":["Syndrome de fémur bifide-ectrodactylie monodactyle"],"definition":"Anomalie congénitale rare des membres caractérisée par un fémur bifide, une absence ou une hypoplasie du tibia et de l'ulna, des membres courts, une oligodactylie et une ectrodactylie."},"de":{"name":"Gollop-Wolfgang-Komplex","synonyms":["Femur, gegabelter - Ektrodaktylie - Monodaktylie"],"definition":"Eine seltene angeborene Fehlbildung der Gliedmaßen, die durch einen bifidalen Oberschenkelknochen, eine fehlende oder hypoplastische Tibia und Ulna mit Verkürzung der Gliedmaßen, Oligodaktylie und Ektrodaktylie gekennzeichnet ist."},"es":{"name":"Complejo de Gollop-Wolfgang","synonyms":["Femur bífido-ectrodactilia monodactilia"],"definition":"Es una malformación congénita de las extremidades poco frecuente caracterizada por fémur bífido, tibia y cúbito ausente o hipoplásico con acortamiento de la extremidad, oligodactilia y ectrodactilia."},"it":{"name":"Complesso di Gollop-Wolfgang","synonyms":["Femore bifido - ectrodattilia - monodattilia"],"definition":"Si tratta di una malformazione congenita rara degli arti, caratterizzata da femore bifido e aplasia o ipoplasia della tibia e dell'ulna con accorciamento degli arti, oligodattilia ed ectrodattilia."},"nl":{"name":"Gollop-Wolfgangcomplex","synonyms":["Femur bifurcatie - monodactyleuze ectrodactylie"],"definition":"Een zeldzame, congenitale ledemaatmalformatie, gekarakteriseerd door bifide femur, afwezigheid of hypoplasie van tibia en ulna met verkorting van ledematen, oligodactylie, en ectrodactylie."},"pt":{"name":"Complexo Gollop-Wolfgang","synonyms":["Fémur bífido com ectrodactilia","Síndrome de fémur bifido unilateral-ectrodactilia monodactilosa"],"definition":"O complexo de Gollop-Wolfgang é uma malformação muito rara caracterizada por ectrodactilia da mão e bifurcação do fémur."},"pl":{"name":"Kompleks Gollopa i Wolfganga","synonyms":["Rozszczep kości udowej - ektrodaktylia jednopalcowa"]},"cs":{"name":"Gollopův-Wolfgangův komplex","synonyms":["Syndrom zahrnující rozštěp femuru a monodaktylní ektrodaktylii","Gollop-Wolfgangův komplex"]},"uk":{"name":"Комплекс Голлоп-Вольфганга","synonyms":["Синдром біфідемічної стегново-монодактильної ектродактилії"],"definition":"A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly."},"zh":{"name":"Gollop-Wolfgang综合征","synonyms":["股骨裂-单指（趾）缺指（趾）综合征"]},"tr":{"name":"Gollop-Wolfgang kompleksi","synonyms":["Bifid femur-monodaktilöz ektrodaktili sendromu"]}},"xrefs":[{"source":"OMIM","code":"228250","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q74.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD26.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"32698895"},{"source":"MONDO","code":"0009222","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537917","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1856789","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2285","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10079731","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":294957,"name":"Dysostosis with combined reduction defects of upper and lower limbs","classifications":[147,156,199]},{"orpha":498477,"name":"Ectrodactyly with and without other manifestations","classifications":[147,156,199]},{"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":[{"symbol":"BHLHA9","name":"basic helix-loop-helix family member a9","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"25351291[PMID]","hgnc":"35126","ensembl":"ENSG00000205899","omim":"615416","loci":["17p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":200.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Worldwide","status":"Validated","source":"40278527[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0005772","label":"Aplasia/Hypoplasia of the tibia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010443","label":"Bifid femur","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100257","label":"Ectrodactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004058","label":"Hand monodactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006495","label":"Aplasia/Hypoplasia of the ulna","frequency":"Frequent (79-30%)","criteria":null}]}}