{"orpha":434179,"name":"Orofaciodigital syndrome type 14","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Microcephaly-cerebral malformation-orofaciodigital syndrome","OFD14","Oral-facial-digital syndrome type 14"],"definition":"A rare developmental disorder of the ciliopathy group characterized by oral, facial and digital malformations associated with microcephaly and cerebral malformations such as corpus callosum agenesis and vermis hypoplasia with molar tooth sign. Oral manifestations include gingival frenulae, lingual hamartomas, cleft/lobulated tongue and a cleft palate. Facial features can include telecanthus and an upslanting palpebral fissures. Digital malformations encompass hands postaxial polydactyly and duplication of the hallux.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-434179/","orphanet_url":"https://www.orpha.net/en/disease/detail/434179","names":{"fr":{"name":"Syndrome oro-facio-digital type 14","synonyms":["OFD14","Syndrome oro-facio-digital-microcéphalie-malformation cérébrale"],"definition":"Le syndrome oro-facio-digital type 14 est un sous-type rare du syndrome oro-facio-digital, suivant un mode de transmission autosomique récessif et présentant des mutations <i>C2CD3</i>. Il se caractérise par une microcéphalie sévère, une trigonocéphalie, un déficit intellectuel sévère et un micropénis, en addition de malformations orales, faciales et digitales (frein gingival, hamartome lingual, langue fendue/lobulée, fente palatine, télécanthus, fentes palpébrales obliques en haut et en dehors, microrétrognathie, polydactylie post-axiale au niveau des mains, duplication des gros orteils). Une agénésie du corps calleux et une hypoplasie du vermis avec un signe de la molaire sont aussi associés à l'imagerie cérébrale."},"de":{"name":"Oro-fazio-digitales Syndrom Typ 14","synonyms":["Mikrozephalie-zerebrale Fehlbildung-oro-fazio-digitales Syndrom","OFD14"],"definition":"Ein seltener Subtyp des Oro-fazio-digitales Syndroms mit autosomal-rezessivem Erbgang und ursächlichen <i>C2CD3</i>-Mutationen. Er ist gekennzeichnet durch schwere Mikrozephalie, Trigonozephalie, schwere Intelligenzminderung und Mikropenis. Weitere Manifestationen sind orale, faziale und digitale Fehlbildungen (Gingivalfrenulae, linguale Hamartome, Zungenspalte/Lobulation, Gaumenspalte, Telecanthus, nach oben geneigte Lidspalten, Mikroretrognathie, postaxiale Polydaktylie der Hände und Duplikation des Hallux), Corpus-callosum-Agenesie und Vermis-Hypoplasie mit backenzahnähnlicher Konfiguration des Mittelhirns (<i>Molar Tooth Sign</i>, MTS) in der Hirnbildgebung."},"es":{"name":"Síndrome orofaciodigital tipo 14","synonyms":["OFD14","Síndrome oro-facio-digital tipo 14","Síndrome orofaciodigital-microcefalia-malformación cerebral"],"definition":"El síndrome orofaciodigital tipo 14 es un subtipo poco frecuente del síndrome orofaciodigital, de herencia autosómica recesiva y mutaciones en <i> C2CD3 </ i>, caracterizado por microcefalia grave, trigonocefalia, discapacidad intelectual grave y micropene, además de malformaciones orales, faciales y digitales (frenillo gingival, hamartomas linguales, lengua bífida/lobulada, paladar hendido, telecanto, fisuras palpebrales inclinadas hacia arriba, microrretrognatia, polidactilia postaxial de las manos y duplicacion del hallux). También se asocia a agenesia del cuerpo calloso e hipoplasia del vermis con signo del diente molar en imágenes cerebrales."},"it":{"name":"Sindrome orofaciodigitale, tipo 14","synonyms":["OFD14","Sindrome oro-facio-digitale, tipo 14","Sindrome orofaciodigitale-malformazione cerebrale-microcefalia"],"definition":"La sindrome orofaciodigitale tipo 14 è un sottotipo raro della sindrome orofaciodigitale a trasmissione autosomica recessiva, causata da mutazioni nel gene C2CD3. È caratterizzata da microcefalia, trigonocefalia e disabilità intellettiva grave, micropene, malformazioni del volto e delle dita (frenuli gengivali, amartomi linguali, glossoschisi/lingua lobulata, palatoschisi, telecanto, rime palpebrali oblique verso l'alto, microretrognazia, polidattilia postassiale sulle mani e duplicazione dell'alluce). La diagnostica per immagini evidenzia l'agenesia del corpo calloso e l'ipoplasia del verme con il segno del dente molare."},"nl":{"name":"Orofaciodigitaal syndroom type 14","synonyms":["Microcefalie - cerebrale malformatie - orofaciodigitaal syndroom","OFD14","Oraal-faciaal-digitaal syndroom type 14"],"definition":"Oro-facio-digitaal syndroom type 14 is een zeldzaam subtype van oro-facio-digitaal syndroom, met autosomaal recessieve overerving en mutaties in <i>C2CD3</i>, en wordt gekarakteriseerd door ernstige microcefalie, trigonocefalie, ernstige intellectuele achterstand en micropenis, naast orale, faciale en digitale malformaties (gingivale frenulae, linguale hamartomen, gespleten/gelobde tong, gespleten verhemelte, telecanthus, opwaartse ooglidspleten, microretrognathie, postaxiale polydactylie van de handen en duplicatie van de hallux (grote teen)). Agenesie van het corpus callosum en hypoplasie van de vermis, zichtbaar als kiesteken bij beeldvorming van de hersenen, zijn ook geassocieerd."},"pt":{"name":"Síndrome oro-facio-digital tipo 14","synonyms":["OFD14"]},"pl":{"name":"Zespół ustno-twarzowo-palcowy typu 14","synonyms":["OFD14","Zespół ustno-twarzowo-palcowy z małogłowiem i malformacjami mózgu"]},"cs":{"name":"Orofaciodigitální syndrom, typ 14","synonyms":["Mikrocefalie, malformace mozku a orofaciodigitální syndrom","OFD14","Oro-facio-digitální syndrom, typ 14"]},"uk":{"name":"Орофаціодигітальний синдром, тип 14","synonyms":["Мікроцефалія - церебральна вада розвитку - орофаціодігітальний синдром","OFD14","Орально-лицево-пальцевий синдром, тип 14"],"definition":"Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and <i>C2CD3</i> mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated."},"zh":{"name":"口面指综合征14型","synonyms":["小头畸形-口面指综合征"],"definition":"口面指综合征14型是口面指综合征的一种罕见亚型，具有常染色体隐性遗传和 C2CD3基因突变，除口腔，面部和指畸形（包括牙龈带，舌状错构瘤，舌裂/舌分叶、唇裂、内眦距过宽，睑裂向上倾斜，小下颌合并下颌退缩症，手部轴后多指畸形和拇趾重复）外还可合并严重的小头畸形，三角头畸形，严重智力障碍和小阴茎的特征。脑影像提示胼胝体发育不全，小脑蚓畸形合并臼齿征。"},"tr":{"name":"Orofasiyodijital sendromu tip 14","synonyms":["OFD14","Oral-fasiyal-dijital sendromu tip 14","Mikrosefali-serebral malformasyon-orofasiyodijital sendromu"]}},"xrefs":[{"source":"OMIM","code":"615948","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":"attributed","validated":true},{"source":"MONDO","code":"0014413","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706604","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13655","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"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":269528,"name":"Syndrome with microcephaly as a major feature","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"C2CD3","name":"C2 domain containing 3 centriole elongation regulator","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24997988[PMID]","hgnc":"24564","ensembl":"ENSG00000168014","omim":"615944","loci":["11q13.4"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"24997988[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24997988[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-12-03","source":"30097616[PMID]_24997988[PMID]","terms":[{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012447","label":"Abnormal myelination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000191","label":"Accessory oral frenulum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008753","label":"Aplasia of the epiglottis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010297","label":"Bifid tongue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008689","label":"Bilateral cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010055","label":"Broad hallux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010051","label":"Deviation of the hallux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002198","label":"Dilated fourth ventricle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007082","label":"Dilated third ventricle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010066","label":"Duplication of phalanx of hallux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000039","label":"Epispadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011471","label":"Gastrostomy tube feeding in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011802","label":"Hamartoma of tongue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000180","label":"Lobulated tongue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000308","label":"Microretrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002419","label":"Molar tooth sign on MRI","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100954","label":"Open operculum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001338","label":"Partial agenesis of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007165","label":"Periventricular heterotopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001830","label":"Postaxial foot polydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001162","label":"Postaxial hand polydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000480","label":"Retinal coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010535","label":"Sleep apnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000340","label":"Sloping forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011069","label":"Supernumerary tooth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000243","label":"Trigonocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000465","label":"Webbed neck","frequency":"Frequent (79-30%)","criteria":null}]}}