{"orpha":2755,"name":"Orofaciodigital syndrome type 8","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["OFD8","Oral-facial-digital syndrome type 8","Oral-facial-digital syndrome, Edwards type","Orofaciodigital syndrome, Edwards type"],"definition":"A rare orofaciodigital syndrome characterized by hypertelorism, telecanthus, broad and bifid nasal tip, median cleft of the upper lip, tongue lobulation and/or hamartomas, oral frenula, high-arched or cleft palate, hypoplasia of the epiglottis, arytenoid cartilages, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, bifid halluces, short stature, and mild intellectual deficiency. Absent corpus callosum, hydrocephalus, atrioventricular septal defect and recurrent aspiration pneumonia, have also been reported. There have been no further descriptions in the literature since 1993.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2755/","orphanet_url":"https://www.orpha.net/en/disease/detail/2755","names":{"fr":{"name":"Syndrome oro-facio-digital type 8","synonyms":["OFD8","Syndrome oro-facio-digital type Edwards"],"definition":"Syndrome oro-facio-digital rare caractérisé par un télécanthus, une pointe nasale large et bifide, une langue lobulée et/ou des hamartomes, une fente labiale médiane, une polydactylie bilatérale préaxiale et postaxiale, des gros orteils bifides, une petite taille, un retard de développement et des pneumonies d'aspiration récurrentes. D'autres signes cliniques peuvent inclure un tibia et/ou un radius anormaux, une hypoplasie de l'épiglotte et des cartilages aryténoïdes. L'absence de corps calleux, une hydrocéphalie et une communication interventriculaire ont également été rapportées. Aucun nouveau cas n'a été décrit dans la littérature depuis 1993."},"de":{"name":"Oro-fazio-digitales Syndrom Typ 8","synonyms":["Oro-fazio-digitales Syndrom vom Edwards Typ","OFD8"],"definition":"Ein seltenes orofaziodigitales Syndrom, das durch Telekanthus, breite und gespaltene Nasenspitze, mediane Lippenspalte, Zungenlappung und/oder Hamartome, bilaterale präaxiale und postaxiale Polydaktylie, gespaltene Halluxes, Kleinwuchs, Entwicklungsverzögerung und rezidivierende Aspirationspneumonie gekennzeichnet ist. Weitere klinische Merkmale können abnormale Tibiae und/oder Radii, Hypoplasie der Epiglottis und der Aryknorpel sein. Es wurde auch über das Fehlen des Corpus callosum, Hydrozephalus und einen atrioventrikulären Septumdefekt berichtet. Seit 1993 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome orofaciodigital tipo 8","synonyms":["OFD8","Síndrome orofaciodigital tipo Edwards"],"definition":"Es un síndrome orofaciodigital poco frecuente caracterizado por hipertelorismo, telecanto, punta nasal ancha y bífida, hendidura media del labio superior, lobulación lingual o hamartomas, frenillo oral, paladar ojival o hendido, hipoplasia de la epiglotis, cartílagos aritenoides, polidactilia preaxial y postaxial bilateral, anomalías de las tibias y/o radios, hallux bífido, talla baja y discapacidad intelectual leve. También puede asociar ausencia del cuerpo calloso, hidrocefalia, defectos de la comunicación auriculoventricular y neumonía recurrente por aspiración. No se han descrito más casos en la literatura desde 1993."},"it":{"name":"Sindrome orofaciodigitale, tipo 8","synonyms":["OFD8","Sindrome oro-facio-digitale, tipo 8","Sindrome oro-facio-digitale, tipo Edwards","Sindrome orofaciodigitale, tipo Edwards"]},"nl":{"name":"Orofaciodigitaal syndroom type 8","synonyms":["OFD8","Oraal-faciaal-digitaal syndroom type 8","Oraal-faciaal-digitaal syndroom, Edwards-type","Orofaciodigitaal syndroom, Edwards-type"],"definition":"Een zeldzaam orofaciodigitaal syndroom, gekenmerkt door hypertelorisme, telecanthus, brede en gespleten neuspunt, mediaan gespleten bovenlip, lobulatie en/of hamartomen van tong, orale frenula, hoog gebogen of gespleten gehemelte, hypoplasie van epiglottis, arytenoïd kraakbeen (bekerkraakbeentjes), bilaterale preaxiale en postaxiale polydactylie, abnormale tibiae en/of radii, bifide halluces, kleine gestalte, en milde intellectuele achterstand. Afwezig corpus callosum, hydrocefalie, atrioventriculair septumdefect en recidiverende aspiratiepneumonie werden ook reeds gerapporteerd. Sinds 1993 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome oro-facio-digital tipo 8","synonyms":["OFD8","Síndrome oro-facio-digital com anomalias da retina"]},"pl":{"name":"Zespół ustno-twarzowo-palcowy typu 8","synonyms":["Zespół ustno-twarzowo-palcowy, typ Edwardsa","OFD8","Zespół ustno-twarzowo-palcowy typu 8","Zespół ustno-twarzowo-palcowy, typ Edwardsa"]},"cs":{"name":"Orofaciodigitální syndrom, typ 8","synonyms":["OFD8"]},"uk":{"name":"Орофаціодигітальний синдром, тип 8","synonyms":["OFD8","Орально-лицево-пальцевий синдром, тип 8","Орально-лицево-пальцевий синдром, тип Едвардса","Орофаціально-дигітальний синдром, тип Едвардса"],"definition":"Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit."},"zh":{"name":"口面指综合征8型","synonyms":["口-面-指综合征，Edwards型"]},"tr":{"name":"Orofasiyodijital sendrom tip 8","synonyms":["OFD8","Oral-fasiyal-dijital sendromu tip 8","Orofasiyodijital sendromu, Edwards tipi","Oral-fasiyal-dijital sendrom, Edwards tipi"]}},"xrefs":[{"source":"OMIM","code":"300484","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":"1948779753"},{"source":"MONDO","code":"0010336","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C557820","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796101","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4060","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":140997,"name":"Orofaciodigital syndrome","classifications":[147,156,199,200,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":20.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]_ORPHANET"}],"phenotypes":null}