{"orpha":2750,"name":"Orofaciodigital syndrome type 1","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["OFD1","OFDI","OFDSI","Oral-facial-digital syndrome type 1","Papillon-Léage-Psaume syndrome"],"definition":"A rare neurodevelopmental disorder in the ciliopathy group characterized by variable anomalies in affected females including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and viscera (kidneys, pancreas and ovaries). In males, it is mostly lethal, typically during the first or second trimester of pregnancy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2750/","orphanet_url":"https://www.orpha.net/en/disease/detail/2750","names":{"fr":{"name":"Syndrome oro-facio-digital type 1","synonyms":["OFD1","OFDI","OFDS1","OFDSI","Syndrome de Papillon-Léage-Psaume"],"definition":"Maladie neurodéveloppementale rare appartenant au groupe des ciliopathies, caractérisée par des anomalies variables chez les filles atteintes, notamment des malformations externes (craniofaciales et digitales) et une atteinte possible du système nerveux central (SNC) et des viscères (reins, pancréas et ovaires). Les garçons décèdent généralement au cours du premier ou du deuxième trimestre de la grossesse."},"de":{"name":"Oro-fazio-digitales Syndrom Typ 1","synonyms":["OFD1","OFDI","OFDSI","Papillon-Léage-Psaume-Syndrom"],"definition":"Das Oro-fazio-digitale Syndrom Typ 1 (OFD1) ist eine seltene neuronale Entwicklungsstörung aus der Gruppe der Ziliopathien. Sie ist im männlichen Geschlecht letal. Unterschiedlich ausgeprägte Anomalien im weiblichen Geschlecht sind: Externe Fehlbildungen (kraniofazial und digital), sowie mögliche Beteiligung des Zentralnervensystems (ZNS) und innerer Organe (Nieren, Pankreas und Ovarien)."},"es":{"name":"Síndrome orofaciodigital tipo 1","synonyms":["OFD1","OFDI","OFDSI","Síndrome de Papillon-Léage-Psaume"],"definition":"El síndrome orofaciodigital tipo 1 (OFD1) es un trastorno raro del neurodesarrollo del grupo de las ciliopatías. Es letal en varones, y en mujeres se caracteriza por anomalías variables que incluyen malformaciones externas (craneofaciales y digitales), y posible afectación del sistema nervioso central (SNC) y de las vísceras (riñones, páncreas y ovarios)."},"it":{"name":"Sindrome oro-facio-digitale tipo 1","definition":"La sindrome oro-facio-digitale tipo 1 (OFD1) è una malattia rara del neurosviluppo del gruppo delle ciliopatie. È letale nei maschi e si caratterizza per anomalie variabili: difetti esterni (craniofacciali e delle dita) e possibile coinvolgimento del sistema nervoso centrale (SNC) e degli organi interni (reni, pancreas e ovaie) nelle femmine."},"nl":{"name":"Orofaciodigitaal syndroom type 1","synonyms":["OFD1","OFDI","OFDSI","Oraal-faciaal-digitaal syndroom type 1","Syndroom van Papillon-Léage-Psaume"],"definition":"Oraal-faciaal-digitaal-syndroom type 1 (OFD1) is een zeldzame neurologische ontwikkelingsstoornis behorende tot de groep van ciliopathieën en is dodelijk bij het mannelijk geslacht. Het syndroom wordt gekenmerkt door variabele afwijkingen waaronder uitwendige misvormingen (craniofaciaal en digitaal), en met een mogelijke betrokkenheid van het centrale zenuwstelsel (CZS) en de ingewanden (nieren, pancreas en eierstokken) bij vrouwen."},"pt":{"name":"Síndrome oro-facio-digital tipo 1","synonyms":["OFD1"]},"pl":{"name":"Zespół ustno-twarzowo-palcowy typu 1","synonyms":["OFD1","OFDI","OFDSI","Zespół Papillona, Léage'a i Psaume'a","Zespół ustno-twarzowo-palcowy typu 1"]},"cs":{"name":"Orofaciodigitální syndrom, typ 1","synonyms":["OFD1","OFDI","OFDSI","Papillon-Léageové-Psaumeův syndrom","Papillon-Léage-Psaumeův syndrom"]},"uk":{"name":"Орофаціодигітальний синдром, тип 1","synonyms":["OFD1","OFDI","OFDSI","Орально-лицево-пальцевий синдром, тип 1","Синдром Папілона-Лежа-Псауме"],"definition":"Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females."},"zh":{"name":"口面指综合征1型","synonyms":["Papillon-Léage-Psaume 综合征"]},"tr":{"name":"Orofasiyodijital sendrom tip 1","synonyms":["OFD1","OFDI","OFDSI","Papillon-Léage-Psaume sendromu","Oral-fasiyal-dijital sendrom tip 1"]}},"xrefs":[{"source":"OMIM","code":"311200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD25.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"192000485"},{"source":"MONDO","code":"0010702","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537134","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1510460","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4121","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":90649,"name":"Orofaciodigital syndrome type 7","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":183460,"name":"Genetic sebaceous gland anomaly","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":140997,"name":"Orofaciodigital syndrome","classifications":[147,156,199,200,209]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":79372,"name":"Sebaceous gland anomaly","classifications":[187]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[],"genes":[{"symbol":"OFD1","name":"OFD1 centriole and centriolar satellite protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20301367[PMID]","hgnc":"2567","ensembl":"ENSG00000046651","omim":"300170","loci":["Xp22.2"]}],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.65,"area":"France","status":"Validated","source":"22925539[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.2,"area":"Europe","status":"Validated","source":"20301367[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000271","label":"Abnormality of the face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000191","label":"Accessory oral frenulum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000187","label":"Broad alveolar ridges","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","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:0000180","label":"Lobulated tongue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000161","label":"Median cleft lip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000929","label":"Abnormal skull morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010579","label":"Cone-shaped epiphysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004097","label":"Deviation of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001829","label":"Foot polydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011802","label":"Hamartoma of tongue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001161","label":"Hand polydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001831","label":"Short toe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000199","label":"Tongue nodules","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000682","label":"Abnormality of dental enamel","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001732","label":"Abnormality of the pancreas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002299","label":"Brittle hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000389","label":"Chronic otitis media","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002208","label":"Coarse hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002617","label":"Dilatation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001738","label":"Exocrine pancreatic insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010669","label":"Hypoplasia of the zygomatic bone","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100267","label":"Lip pit","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001056","label":"Milia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000003","label":"Multicystic kidney dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100612","label":"Odontogenic neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010807","label":"Open bite","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001737","label":"Pancreatic cysts","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001162","label":"Postaxial hand polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001177","label":"Preaxial hand polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008368","label":"Tarsal synostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null}]}}