{"orpha":93258,"name":"Pfeiffer syndrome type 1","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Classic Pfeiffer syndrome"],"definition":null,"note":"This disease is described under Pfeiffer syndrome","url":"https://raremap.alftech.space/d/ORPHA-93258/","orphanet_url":"https://www.orpha.net/en/disease/detail/93258","names":{"fr":{"name":"Syndrome de Pfeiffer type 1","synonyms":["Syndrome de Pfeiffer classique"]},"de":{"name":"Pfeiffer-Syndrom Typ 1","synonyms":["Pfeiffer-Syndrom, klassisches"]},"es":{"name":"Síndrome de Pfeiffer tipo 1","synonyms":["Síndrome de Pfeiffer clásico"]},"it":{"name":"Sindrome di Pfeiffer, tipo 1","synonyms":["Sindrome di Pfeiffer classica"]},"nl":{"name":"Syndroom van Pfeiffer type 1","synonyms":["Klassiek syndroom van Pfeiffer"]},"pt":{"name":"Síndrome Pfeiffer tipo 1","synonyms":["Síndrome Pfeiffer clássico"]},"pl":{"name":"Zespół Pfeiffera typu 1","synonyms":["Klasyczny zespół Pfeiffera"]},"cs":{"name":"Pfeifferův syndrom, typ 1","synonyms":["Klasický Pfeifferův syndrom"]},"uk":{"name":"Синдром Пфайффера, тип 1","synonyms":["Класичний синдром Пфайффера"]},"zh":{"name":"Pfeiffer综合征1型","synonyms":["经典Pfeiffer综合征"],"definition":"Pfeiffer综合征1型（PS1）是一种轻到中度严重的Pfeiffer综合征（PS；见该词条），其特征是双冠颅缝早闭，各种手指和脚趾畸形，以及在大多数情况下智力发育正常。"},"tr":{"name":"Pfeiffer sendromu tip 1","synonyms":["Klasik Pfeiffer sendromu"]}},"xrefs":[{"source":"OMIM","code":"101600","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.G0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"490354109"},{"source":"MONDO","code":"0019659","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5438812","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":710,"name":"Pfeiffer syndrome","classifications":[147,156,189,199]}],"children":[],"genes":[{"symbol":"FGFR2","name":"fibroblast growth factor receptor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"20301628[PMID]","hgnc":"3689","ensembl":"ENSG00000066468","omim":"176943","loci":["10q26.13"]},{"symbol":"FGFR1","name":"fibroblast growth factor receptor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301628[PMID]","hgnc":"3688","ensembl":"ENSG00000077782","omim":"136350","loci":["8p11.23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"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:0009601","label":"Aplasia/Hypoplasia of the thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011318","label":"Bicoronal synostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010059","label":"Broad hallux phalanx","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008080","label":"Hallux varus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010109","label":"Short hallux","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001773","label":"Short foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002410","label":"Aqueductal stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null}]}}