{"orpha":726703,"name":"Polydactyly-macrocephaly syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["MAX-related polydactyly-macrocephaly syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-726703/","orphanet_url":"https://www.orpha.net/en/disease/detail/726703","names":{"fr":{"name":"Syndrome de polydactylie-macrocéphalie","synonyms":["Syndrome de polydactylie-macrocéphalie associé à MAX"]},"de":{"name":"Polydaktylie-Makrozephalie-Syndrom","synonyms":["MAX-assoziiertes Polydaktylie-Makrozephalie-Syndrom"]},"es":{"name":"Síndrome de polidactilia-macrocefalia","synonyms":["Síndrome de polidactilia-macrocefalia asociado al gen MAX"]},"it":{"name":"Sindrome polidattilia-macrocefalia","synonyms":["Sindrome polidattilia-macrocefalia correlata a MAX"]},"nl":{"name":"Polydactylie - macrocefalie-syndroom","synonyms":["MAX-gerelateerd polydactylie - macrocefalie-syndroom"]},"pt":{"name":"Polydactyly-Macrocephaly Syndrome"},"pl":{"name":"Polydactyly-macrocephaly syndrome","synonyms":["MAX-related polydactyly-macrocephaly syndrome"]},"cs":{"name":"Polydactyly-macrocephaly syndrome","synonyms":["MAX-related polydactyly-macrocephaly syndrome"]}},"xrefs":[{"source":"OMIM","code":"620712","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":294959,"name":"Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"MAX","name":"MYC associated transcriptional regulator X","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"38141607[PMID]","hgnc":"6913","ensembl":"ENSG00000125952","omim":"154950","loci":["14q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"38141607[PMID]_40799178[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"38141607[PMID]_40799178[PMID]_ORPHANET"}],"phenotypes":null}