{"orpha":2753,"name":"Orofaciodigital syndrome type 4","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Baraitser-Burn syndrome","Mohr-Majewski syndrome","OFD4","Oral-facial-digital syndrome type 4"],"definition":"A rare developmental disorder of the ciliopathy group characterized by postaxial polydactyly, mesomelic shortening of the legs (tibial hypoplasia), nonspecific orofacial features, and variable involvement of viscera (kidneys, liver) and the central nervous system.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2753/","orphanet_url":"https://www.orpha.net/en/disease/detail/2753","names":{"fr":{"name":"Syndrome oro-facio-digital type 4","synonyms":["OFD4","Syndrome de Baraitser-Burn","Syndrome de Mohr-Majewski"],"definition":"Maladie rare du développement appartenant au groupe des ciliopathies, caractérisée par une polydactylie postaxiale, un raccourcissement mésomélique des jambes (hypoplasie tibiale), des malformations orofaciales non spécifiques et une atteinte variable des organes internes (reins, foie) et du système nerveux central."},"de":{"name":"Oro-fazio-digitales Syndrom Typ 4","synonyms":["Baraitser-Burn-Syndrom","Mohr-Majewski-Syndrom","OFD4"],"definition":"Eine seltene Entwicklungsstörung aus der Gruppe der Ziliopathien, die durch postaxiale Polydaktylie, mesomele Verkürzung der Beine (Tibialhypoplasie), unspezifische orofaziale Merkmale und eine variable Beteiligung der inneren Organe (Nieren, Leber) und des Zentralnervensystems gekennzeichnet ist."},"es":{"name":"Síndrome orofaciodigital tipo 4","synonyms":["OFD4","Síndrome de Baraitser-Burn","Síndrome de Mohr-Majewski","Síndrome oro-facio-digital tipo 4"],"definition":"El síndrome orofaciodigital tipo 4 se caracteriza por: hamartoma lingual, polisindactilia postaxial de las manos y los pies, acortamiento mesomélico de las piernas y pie equinovaro supinado."},"it":{"name":"Sindrome orofaciodigitale, tipo 4","synonyms":["OFD4","Sindrome di Baraitser-Burn","Sindrome di Mohr-Majewski","Sindrome oro-facio-digitale, tipo 4"]},"nl":{"name":"Orofaciodigitaal syndroom type 4","synonyms":["OFD4","Oraal-faciaal-digitaal syndroom type 4","Syndroom van Baraitser-Burn","Syndroom van Mohr-Majewski"],"definition":"Een zeldzame ontwikkelingsstoornis behorende tot de groep van ciliopathieën, gekenmerkt door postaxiale polydactylie, mesomele verkorting van de benen (hypoplasie van tibia), aspecifieke orofaciale kenmerken, en variabele betrokkenheid van ingewanden (nier, lever) en centraal zenuwstelsel."},"pt":{"name":"Síndrome oro-facio-digital tipo 4","synonyms":["OFD4"],"definition":"A síndrome oral-facial-digital tipo 4 é caracterizada por hamartoma lingual, polissindactilia pós-axial das mãos e dos pés e encurtamento mesomélico das pernas com pés equinovaros supinados."},"pl":{"name":"Zespół ustno-twarzowo-palcowy typu 4","synonyms":["Zespół ustno-twarzowo-palcowy typu 4","OFD4","Zespół Baraitsera i Burna"]},"cs":{"name":"Orofaciodigitální syndrom, typ 4","synonyms":["OFD4","Baraitserův-Burnův syndrom","Mohrův-Majewského syndrom","Baraitser-Burnův syndrom","Mohr-Majewského syndrom"]},"uk":{"name":"Орофаціодигітальний синдром, тип 4","synonyms":["Синдром Барайзера-Берна","Синдром Мор-Маєвського","OFD4","Орально-лицево-пальцевий синдром, тип 4"],"definition":"Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet."},"zh":{"name":"口面指综合征4型","synonyms":["Baraitser-Burn综合征"]},"tr":{"name":"Orofasiyodijital sendrom tip 4","synonyms":["OFD4","Mohr-Majewski sendromu","Baraitser-Burn sendromu","Oral-fasiyal-dijital sendromu tip 4"]}},"xrefs":[{"source":"OMIM","code":"258860","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":"1431813860"},{"source":"MONDO","code":"0009794","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537133","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0406727","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"816","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93426,"name":"Ciliopathies with major skeletal involvement","classifications":[147,156,199]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","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":182108,"name":"Thoracic malformation","classifications":[184]}],"children":[],"genes":[{"symbol":"TCTN3","name":"tectonic family member 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22883145[PMID]","hgnc":"24519","ensembl":"ENSG00000119977","omim":"613847","loci":["10q24.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":15.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-07-24","source":null,"terms":[{"hpo":"HP:0001367","label":"Abnormal joint morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000190","label":"Abnormal oral frenulum morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011830","label":"Abnormal oral mucosa morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000496","label":"Abnormality of eye movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000168","label":"Abnormality of the gingiva","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000356","label":"Abnormality of the outer ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000157","label":"Abnormality of the tongue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010469","label":"Absent testis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009118","label":"Aplasia/Hypoplasia of the mandible","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005772","label":"Aplasia/Hypoplasia of the tibia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002970","label":"Genu varum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010566","label":"Hamartoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001373","label":"Joint dislocation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001601","label":"Laryngomalacia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000161","label":"Median cleft lip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011267","label":"Microtia, third degree","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030868","label":"Monorchism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010285","label":"Oral synechia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001162","label":"Postaxial hand polydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001177","label":"Preaxial hand polydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003510","label":"Severe short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000193","label":"Bifid uvula","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100308","label":"Cerebral cortical hemiatrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001171","label":"Split hand","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012157","label":"Subcortical cerebral atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000176","label":"Submucous cleft hard palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000598","label":"Abnormality of the ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011255","label":"Absent crus of helix","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005944","label":"Bilateral lung agenesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001800","label":"Hypoplastic toenails","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004871","label":"Perineal fistula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008207","label":"Primary adrenal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025023","label":"Rectal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000143","label":"Rectovaginal fistula","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000104","label":"Renal agenesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Occasional (29-5%)","criteria":null}]}}