{"orpha":2917,"name":"Polydactyly-myopia syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Czeizel-Brooser syndrome"],"definition":"Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2917/","orphanet_url":"https://www.orpha.net/en/disease/detail/2917","names":{"fr":{"name":"Syndrome de polydactylie-myopie","synonyms":["Syndrome de Czeizel-Brooser"],"definition":"La polydactylie - myopie est une anomalie développementale autosomique dominante très rare rapportée en 1986 chez 9 individus sur 4 générations de la même famille. Le syndrome est caractérisé sur le plan clinique par une polydactylie postaxiale des 4 membres et une myopie .Il n'existe pas de nouvelles descriptions dans la littérature depuis 1986."},"de":{"name":"Polydaktylie - Myopie","synonyms":["Czeizel-Brooser-Syndrom"]},"es":{"name":"Síndrome de polidactilia-miopía","definition":"El síndrome de polidactilia-miopía es una anomalía del desarrollo autosómica dominante extremadamente rara que se describió en 1986 en nueve individuos de cuatro generaciones de la misma familia. El síndrome se caracteriza clínicamente por polidactilia postaxial de cuatro extremidades y miopía progresiva. No ha habido más descripciones en la literatura desde 1986."},"it":{"name":"Polidattilia - miopia","synonyms":["Sindrome di Czeizel-Brooser"]},"nl":{"name":"Polydactylie-myopiesyndroom","synonyms":["Czeizel-Broosersyndroom"],"definition":"Polydactylie-myopiesyndroom is een uiterst zeldzame, autosomaal dominante ontwikkelingsstoornis, gemeld in 1986 voor negen personen van vier generaties van dezelfde familie. Het syndroom wordt klinisch gekenmerkt door postaxiale polydactylie en progressieve myopie van de vier ledematen. Er zijn geen verdere omschrijvingen in de literatuur sinds 1986."},"pt":{"name":"Síndrome de polidactilia-miopia","synonyms":["Síndrome Czeizel-Brooser"]},"pl":{"name":"Zespół polidaktylia-miopia","synonyms":["Zespół Czeizela i Broosera"]},"cs":{"name":"Syndrom zahrnující polydaktylii a myopii","synonyms":["Czeizelův-Brooserův syndrom","Czeizel-Brooserův syndrom"]},"uk":{"name":"Синдром полідактилії-міопії","synonyms":["Синдром Цейзеля-Брузера"],"definition":"Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986."},"zh":{"name":"多指(趾)畸形-近视综合征","synonyms":["Czeizel-Brooser综合征"]},"tr":{"name":"Polidaktili-miyopi sendromu","synonyms":["Czeizel-Brooser sendromu"]}},"xrefs":[{"source":"OMIM","code":"174310","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008268","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536331","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1868117","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4413","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":294959,"name":"Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"3802559[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3802559[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-07-25","source":null,"terms":[{"hpo":"HP:0000545","label":"Myopia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001162","label":"Postaxial hand polydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100541","label":"Femoral hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Frequent (79-30%)","criteria":null}]}}