{"orpha":1527,"name":"Craniosynostosis, Philadelphia type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1527/","orphanet_url":"https://www.orpha.net/en/disease/detail/1527","names":{"fr":{"name":"Craniosynostose type Philadelphie","definition":"Craniosynostose syndromique caractérisée par une dolichocéphalie avec la fusion prématurée de la suture sagittale, un faciès normal et une syndactylie complète des tissus mous des mains et des pieds. La transmission est autosomique dominante avec des atteintes variables de la main et une pénétrance incomplète de la craniosynostose sagittale. Il est avancé que la craniosynostose, type Philadelphie et la syndactylie de type 1A ont la même étiologie."},"de":{"name":"Kraniosynostose Typ Philadelphia","definition":"Die Kraniosynostose Typ Philadelphia ist eine Form der syndromalen Kraniosynostose, gekennzeichnet durch sagittale/dolichozephale Kopfform mit relativ normalen Gesichtszügen und kompletter Weichteilsyndaktylie von Hand und Fuß. Die Vererbung ist autosomal-dominant mit variabler Expression des Handbefunds und unvollständiger Penetranz der sagittalen Kraniosynostose. Es wird vermutet, dass Kraniosynostose Typ Philadelphia und Syndaktylie Typ 1A die gleiche Ätiologie aufweisen."},"es":{"name":"Craneosinostosis tipo Filadelfia","definition":"Es un tipo de craneosinostosis sindrómica caracterizado por una forma de la cabeza dolicocefálica (alargada o apepinada), una apariencia facial relativamente normal y sindactilia cutánea completa en manos y pies. La transmisión es autosómica dominante con expresión variable de los hallazgos de las manos y penetrancia incompleta de la craneosinostosis sagital. Se ha sugerido que comparte la misma etiología que la sindactilia tipo 1A."},"it":{"name":"Craniosinostosi, tipo Filadelfia","definition":"La craniosinostosi tipo Philadelphia è una forma di craniosinostosi sindromica, caratterizzata da una forma sagittale/dolicocefalica della testa associata a una facies relativamente normale e a sindattilia completa dei tessuti molli delle mani e dei piedi. La trasmissione è autosomica dominante con espressione variabile delle anomalie delle mani; la penetranza della craniosinostosi sagittale è incompleta. Si è ipotizzato che la craniosinostosi tipo Philadelphia abbia la stessa eziologia della sindattilia tipo 1A."},"nl":{"name":"Craniosynostose, Philadelphia-type","definition":"Craniosynostose, Philadelphia-type, is een vorm van syndromale craniosynostose die wordt gekarakteriseerd door een sagittale/dolichocefale schedelvorm met een relatief normaal uiterlijk van het gelaat en complete syndactylie van het zachte weefsel van de handen en voeten. De transmissie gebeurt autosomaal dominant met een variabele expressie van de bevindingen aan de hand, en onvolledige penetrantie van de sagittale craniosynostose. Craniosynostose, Philadelphia-type, kent vermoedelijk eenzelfde etiologie als syndactylie type 1A."},"pt":{"name":"Craniossinostose, tipo Filadélfia"},"pl":{"name":"Kraniosynostoza typu Filadelfia"},"cs":{"name":"Kraniosynostóza, filadelfský typ"},"uk":{"name":"Краніосиностоз, філадельфійський тип","definition":"Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A."},"zh":{"name":"颅缝早闭，Philadelphia型"},"tr":{"name":"Kraniosinostoz, Philadelphia tipi"}},"xrefs":[{"source":"OMIM","code":"185900","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.GY","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"234032200"},{"source":"MONDO","code":"0015467","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563368","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1832590","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1601","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]},{"orpha":139393,"name":"Syndromic craniosynostosis","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"8882401[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8882401[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000637","label":"Long palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null}]}}