{"orpha":710,"name":"Pfeiffer syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["ACS5","Acrocephalosyndactyly type 5"],"definition":"An acrocephalosyndactyly associated with craniosynostosis, midfacial hypoplasia, hand and foot malformation with a wide range of clinical expression and severity. Most of the affected patients show various other associated manifestations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-710/","orphanet_url":"https://www.orpha.net/en/disease/detail/710","names":{"fr":{"name":"Syndrome de Pfeiffer","synonyms":["ACS5","Acro-céphalo-syndactylie type 5"],"definition":"Une acro-céphalo-syndactylie associée à une craniosynostose, une hypoplasie de l'étage moyen du visage et une malformation des mains et des pieds, avec une expression clinique et une sévérité très variables. La plupart des patients affectés présente de nombreuses autres manifestations associées."},"de":{"name":"Pfeiffer-Syndrom","synonyms":["ACS 5","Akrozephalosyndaktylie Typ 5"],"definition":"Eine Akrozephalosyndaktylie in Verbindung mit Kraniosynostose, Mittelgesichtshypoplasie, Hand- und Fußfehlbildung mit einem breiten Spektrum an klinischer Ausprägung und Schweregrad. Die meisten der betroffenen Patienten zeigen verschiedene andere assoziierte Manifestationen."},"es":{"name":"Síndrome de Pfeiffer","synonyms":["ACS5","Acrocefalosindactilia tipo 5"],"definition":"Es una acrocefalosindactilia asociada a craneosinostosis, hipoplasia mediofacial, malformaciones de las manos y los pies con una gran diversidad en la expresión clínica y la gravedad. La mayoría de los pacientes afectados muestra varias manifestaciones asociadas adicionales."},"it":{"name":"Sindrome di Pfeiffer","synonyms":["ACS 5","Acrocefalosindattilia, tipo 5"],"definition":"Si tratta di un'acrocefalosindattilia associata a craniosinostosi, lieve ipoplasia medio-facciale e malformazioni delle mani e dei piedi. Il quadro clinico e la gravità sono molto variabili. La maggior parte dei pazienti presenta anche altri segni clinici variabili."},"nl":{"name":"Syndroom van Pfeiffer","synonyms":["ACS 5","Acrocefalosyndactylie type 5"],"definition":"Een acrocefalosyndactylie geassocieerd met craniosynostose, hypoplasie van het middengezicht, en hand- en voetmisvormingen met zeer variabele klinische expressie en ernst. De meeste getroffen patiënten vertonen verschillende andere geassocieerde manifestaties."},"pt":{"name":"Síndrome Pfeiffer","synonyms":["ACS 5","Acrocefalossindactilia tipo 5"]},"pl":{"name":"Zespół Pfeiffera","synonyms":["ACS 5","Akrocefalosyndaktylia typu 5"],"definition":"Akrocefalosyndaktylia związana z kraniosynostozą, hipoplazją środkowej części twarzy, wadami rozwojowymi dłoni i stóp o szerokim spektrum i nasileniu objawów klinicznych. U większości chorych występują różne inne powiązane objawy."},"cs":{"name":"Pfeifferův syndrom","synonyms":["ACS5","Akrocefalosyndaktylie, typ 5"]},"uk":{"name":"Синдром Пфайфера","synonyms":["Акроцефалосиндактилія 5 типу","ACS5"],"definition":"An acrocephalosyndactyly associated with craniosynostosis, midfacial hypoplasia, hand and foot malformation with a wide range of clinical expression and severity. Most of the affected patients show various other associated manifestations."},"zh":{"name":"Pfeiffer综合征","synonyms":["尖头并指畸形5型"]},"tr":{"name":"Pfeiffer sendromu","synonyms":["ACS5","Akrosefalosindaktili tip 5"]}},"xrefs":[{"source":"OMIM","code":"101600","qualifier":"E","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":"E","icd_relation":"specific","validated":true,"icd11_uri":"1075159878"},{"source":"MONDO","code":"0007043","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538582","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0220658","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7380","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10082289","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98684,"name":"Craniostenosis with strabismus","classifications":[156,189]},{"orpha":139393,"name":"Syndromic craniosynostosis","classifications":[147,156,199]}],"children":[{"orpha":93258,"name":"Pfeiffer syndrome type 1","type":"Clinical subtype"},{"orpha":93259,"name":"Pfeiffer syndrome type 2","type":"Clinical subtype"},{"orpha":93260,"name":"Pfeiffer syndrome type 3","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":93258,"name":"Pfeiffer syndrome type 1"}},{"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"],"via":{"orpha":93259,"name":"Pfeiffer syndrome type 2"}},{"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"],"via":{"orpha":93260,"name":"Pfeiffer syndrome type 3"}},{"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"],"via":{"orpha":93258,"name":"Pfeiffer syndrome type 1"}}],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Europe","status":"Validated","source":"16740155[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"Australia","status":"Validated","source":"34626670[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010669","label":"Hypoplasia of the zygomatic bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","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:0009773","label":"Symphalangism affecting the phalanges of the hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000262","label":"Turricephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012368","label":"Flat face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000194","label":"Open mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005048","label":"Synostosis of carpal bones","frequency":"Occasional (29-5%)","criteria":null}]}}