{"orpha":380,"name":"Greig cephalopolysyndactyly syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["GCPS"],"definition":"A rare developmental defect during embryogenesis with digit duplication, polydactyly, syndactyly, and/or hyperphalangy characterized by multiple congenital anomaly syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-380/","orphanet_url":"https://www.orpha.net/en/disease/detail/380","names":{"fr":{"name":"Syndrome de céphalopolysyndactylie de Greig","synonyms":["GCPS","SCPG"],"definition":"Anomalie rare du développement embryonnaire qui se manifeste par une duplication des doigts, une polydactylie, une syndactylie et/ou une hyperphalangie, et se caractérise par le syndrome d'anomalies congénitales multiples."},"de":{"name":"Greig-Zephalopolysyndaktylie-Syndrom","synonyms":["GCPS","Greig-Syndrom"],"definition":"Ein seltener Entwicklungsdefekt während der Embryogenese mit Fingerverdoppelung, Polydaktylie, Syndaktylie und/oder Hyperphalangie. Das Greig-Zephalopolysyndaktylie-Syndrom (GCPS) geht mit multiplen kongenitalen Anomalien einher."},"es":{"name":"Síndrome de cefalopolisindactilia de Greig","synonyms":["GCPS","SCPG"],"definition":"Es un defecto del desarrollo durante la embriogénesis poco frecuente con duplicación de dedos, polidactilia, sindactilia y/o hiperfalangia caracterizado por un síndrome de múltiples anomalías congénitas."},"it":{"name":"Sindrome da cefalopolisindattilia di Greig","synonyms":["GCPS"],"definition":"La sindrome da cefalopolisindattilia di Greig (GCPS) è un difetto raro dello sviluppo dell'embrione, associato a duplicazione delle dita, polidattilia, sindattilia e/o iperfalangia. Si tratta di una sindrome da anomalie congenite multiple."},"nl":{"name":"Greig-cefalopolysyndactyliesyndroom","synonyms":["Cefalopolysyndactyliesyndroom van Greig","GCPS"],"definition":"Een zeldzaam ontwikkelingsdefect tijdens de embryogenese met duplicatie, polydactylie, syndactylie, en/of hyperfalangie van vingers/tenen, gekarakteriseerd door meervoudige congenitale anomalieën-syndroom."},"pt":{"name":"Síndrome de cefalopolissindactilia Greig","synonyms":["GCPS"],"definition":"A síndrome de cefalopolisindactilia de Greig (GCPS) é uma síndrome pleiotrópica de múltiplas anomalias congénitas."},"pl":{"name":"Zespół cefalopolisyndaktylii Greiga","synonyms":["GCPS"]},"cs":{"name":"Greigův syndrom cefalopolysyndaktylie","synonyms":["GCPS"]},"uk":{"name":"Синдром цефалополісиндактилії Грейга","synonyms":["GCPS"],"definition":"A rare developmental defect during embryogenesis with digit duplication, polydactyly, syndactyly, and/or hyperphalangy characterized by multiple congenital anomaly syndrome."},"zh":{"name":"Greig头多指（趾）综合征","synonyms":["GCPS"]},"tr":{"name":"Greig sefalopolisindaktili sendromu","synonyms":["GCPS"]}},"xrefs":[{"source":"OMIM","code":"175700","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD26.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"606500237"},{"source":"MONDO","code":"0008287","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537300","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265306","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6550","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10053878","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":363250,"name":"Ciliopathy","classifications":[156]},{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":294959,"name":"Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"GLI3","name":"GLI family zinc finger 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"10441342[PMID]_12794692[PMID]_20301619[PMID]_18435847[PMID]","hgnc":"4319","ensembl":"ENSG00000106571","omim":"165240","loci":["7p14.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET_ 25297527[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001162","label":"Postaxial hand polydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001841","label":"Preaxial foot polydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005616","label":"Accelerated skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010059","label":"Broad hallux phalanx","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001830","label":"Postaxial foot polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001177","label":"Preaxial hand polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Occasional (29-5%)","criteria":null}]}}