{"orpha":2439,"name":"Patterson-Stevenson-Fontaine syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Patterson-Stevenson syndrome","Split foot deformity-mandibulofacial dysostosis syndrome"],"definition":"Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2439/","orphanet_url":"https://www.orpha.net/en/disease/detail/2439","names":{"fr":{"name":"Syndrome Patterson-Stevenson-Fontaine","synonyms":["Syndrome de Patterson-Stevenson","Syndrome de pieds fendus-dysostose mandibulo-faciale"],"definition":"Le syndrome Patterson-Stevenson-Fontaine est un variant rare de dysostose acrofaciale caractérisé par une dysostose maxillofaciale et des anomalies des membres."},"de":{"name":"Spalthand mit mandibulofazialer Dysostose","synonyms":["Patterson-Stevenson-Syndrom"]},"es":{"name":"Síndrome de Patterson-Stevenson-Fontaine","synonyms":["Deformidad con pies hendidos-disostosis mandibulofacial","Síndrome de Patterson-Stevenson"],"definition":"El síndrome de Patterson-Stevenson-Fontaine es una variante muy poco frecuente de disostosis acrofacial caracterizada por disostosis mandibulofacial y anomalías en las extremidades."},"it":{"name":"Sindrome di Patterson-Stevenson-Fontaine","synonyms":["Schisi dei piedi - disostosi mandibolofacciale","Sindrome di Patterson-Stevenson"]},"nl":{"name":"Syndroom van Patterson-Stevenson-Fontaine","synonyms":["Gespleten voet - mandibulofaciale dysostose-syndroom","Syndroom van Patterson-Stevenson"],"definition":"Een zeer zeldzame variant van acrofaciale dysostose, gekenmerkt door mandibulofaciale dysostose en ledemaatanomalieën."},"pt":{"name":"Síndrome Patterson-Stevenson-Fontaine","synonyms":["Síndrome Patterson-Stevenson","Síndrome de ectrodactilia das mãos-disostose mandibulo-facial"]},"pl":{"name":"Zespół Pattersona, Stevensona i Fontaine'a","synonyms":["Rozszczep stopy - dyzostoza żuchwowo-twarzowa","Zespół Pattersona i Stevensona"]},"cs":{"name":"Pattersonův-Stevensonův-Fontaineův syndrom","synonyms":["Pattersonův-Stevensonův syndrom","Syndrom zahrnující rozštěp a deformity nohy a mandibulofaciální dysostózu","Patterson-Stevenson-Fontaineův syndrom","Patterson-Stevensonův syndrom"]},"uk":{"name":"Синдром Паттерсона-Стівенсона-Фонтена","synonyms":["Синдром Паттерсона-Стівенсона","Синдром деформації стопи та щелепно-лицьового дизостозу"],"definition":"Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies."},"zh":{"name":"Patterson-Stevenson-Fontaine综合征","synonyms":["分裂足畸形-下颌骨颜面发育不全综合征"]},"tr":{"name":"Patterson-Stevenson-Fontaine sendromu","synonyms":["Patterson-Stevenson sendromu","Bölünmüş ayak deformitesi-mandibulofasiyal dizostoz sendromu"]}},"xrefs":[{"source":"OMIM","code":"183700","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008465","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5574964","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4260","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":364574,"name":"Acrofacial dysostosis","classifications":[147,156,199]},{"orpha":139036,"name":"Branchial arch or oral-acral syndrome","classifications":[147]},{"orpha":498477,"name":"Ectrodactyly with and without other manifestations","classifications":[147,156,199]},{"orpha":183576,"name":"Genetic branchial arch or oral-acral syndrome","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"9098499[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_9098499[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2025-03-05","source":"9098499[PMID]_14234106[PMID]","terms":[{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005321","label":"Mandibulofacial dysostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001839","label":"Split foot","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000678","label":"Dental crowding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004467","label":"Preauricular pit","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null}]}}