{"orpha":250,"name":"Frontonasal dysplasia","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["Median cleft face syndrome"],"definition":"A group of rare bone development disorders characterized by an array of abnormalities affecting the eyes, forehead, and nose, and linked to midfacial dysraphia. The clinical picture is highly variable, but the major findings include hypertelorism, a broad nasal root, a large and bifid nasal tip, and widow's peak. Occasionally, abnormalities can include accessory nasal tags, cleft lip, ocular abnormalities (coloboma, cataract, microphthalmia), conductive hearing loss, basal encephalocele and/or agenesis of the corpus callosum. Intellectual deficit is rare and more likely to occur in cases where hypertelorism is severe or where there is extra-cranial involvement.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-250/","orphanet_url":"https://www.orpha.net/en/disease/detail/250","names":{"fr":{"name":"Dysplasie frontonasale","synonyms":["Syndrome de la fente faciale médiane"],"definition":"Groupe de troubles rares du développement osseux caractérisé par un ensemble d'anomalies affectant les yeux, le front et le nez, lié à une dysraphie médiofaciale. La présentation clinique est très variable, associant principalement un hypertélorisme, une racine du nez large, une extrémité du nez large et bifide et une implantation des cheveux en « V » sur le front. Occasionnellement, peuvent s'y associer des appendices nasaux accessoires, une fente labiale, des anomalies oculaires (colobome, cataracte, microphtalmie), une surdité de transmission, un encéphalocèle basal et/ou une agénésie du corps calleux. Le déficit intellectuel serait d'autant plus probable que l'hypertélorisme est sévère ou qu'il y a une atteinte extra-crânienne."},"de":{"name":"Dysplasie, fronto-nasale","synonyms":["Syndrom der medianen Gesichtsspalte"],"definition":"Eine Gruppe seltener Störungen der Knochenentwicklung, die durch eine Reihe von Anomalien im Bereich der Augen, der Stirn und der Nase gekennzeichnet ist und mit einer Dysraphie des Mittelgesichts einhergeht. Das klinische Bild ist außerordentlich variabel, Hauptsymptome sind Hypertelorismus, breite Nasenwurzel, große und geteilte Nasenspitze und spitz zulaufender Ansatz der Stirnhaare ('widow's peak'). Gelegentlich können Anomalien wie akzessorische Nasenflügel, Lippenspalten, Augenanomalien (Kolobom, Katarakt, Mikrophthalmie), Schallleitungsschwerhörigkeit, basale Enzephalozele und/oder Agenesie des Corpus callosum auftreten. Intellektuelle Defizite sind selten und treten eher bei schwerem Hypertelorismus oder bei einer extrakraniellen Beteiligung auf."},"es":{"name":"Displasia frontonasal","synonyms":["Síndrome de la fisura media"],"definition":"Es un grupo de trastornos del desarrollo óseo poco frecuentes caracterizados por un conjunto de anomalías que afectan a los ojos, la frente y la nariz, asociadas a disrafia mediofacial. El cuadro clínico es muy variable, aunque los principales hallazgos incluyen hipertelorismo, raíz nasal ancha, punta nasal amplia y bífida, y pico de viuda. Ocasionalmente, las anomalías pueden incluir apéndices nasales accesorios, labio leporino, afecciones oculares (tales como coloboma, cataratas y microftalmia), hipoacusia conductiva, encefalocele basal y/o agenesia del cuerpo calloso. La discapacidad intelectual es poco frecuente, siendo más probable en aquellos casos en los que el hipertelorismo es grave o en los que hay afectación extracraneal."},"it":{"name":"Displasia frontonasale","synonyms":["Sindrome della schisi mediana"]},"nl":{"name":"Frontonasale dysplasie","synonyms":["Mediane splijtingsyndroom"],"definition":"Een groep van zeldzame aandoeningen van botontwikkeling, gekarakteriseerd door een geheel van afwijkingen van oog, voorhoofd en neus, gekoppeld aan dysrafie van middengezicht. Het klinisch beeld is zeer variabel, maar de voornaamste bevindingen zijn hypertelorisme, een brede neuswortel, grote en gespleten neuspunt, en V-vormige voorste haargrens. Occasioneel omvatten afwijkingen mogelijk accessoire neusaanhangsels, gespleten lip, oogafwijkingen (coloboom, cataract, microftalmie), conductief gehoorverlies, basale encefalocele en/of agenesie van corpus callosum. Intellectuele achterstand is zeldzaam en waarschijnlijker in geval van ernstig hypertelorisme of extra-craniële betrokkenheid."},"pt":{"name":"Displasia fronto-nasal"},"pl":{"name":"Dysplazja czołowo-nosowa","synonyms":["Zespół rozszczepu pośrodkowego","Zespół rozszczepu pośrodkowego"]},"cs":{"name":"Frontonazální dysplázie","synonyms":["Syndrom mediánního rozštěpu"]},"uk":{"name":"Фронтоназальна дисплазія","synonyms":["Синдром серединної розщілини обличчя"],"definition":"A group of rare bone development disorders characterized by an array of abnormalities affecting the eyes, forehead, and nose, and linked to midfacial dysraphia. The clinical picture is highly variable, but the major findings include hypertelorism, a broad nasal root, a large and bifid nasal tip, and widow's peak. Occasionally, abnormalities can include accessory nasal tags, cleft lip, ocular abnormalities (coloboma, cataract, microphthalmia), conductive hearing loss, basal encephalocele and/or agenesis of the corpus callosum. Intellectual deficit is rare and more likely to occur in cases where hypertelorism is severe or where there is extra-cranial involvement."},"zh":{"name":"额鼻发育不良","synonyms":["脸正中裂综合征"]},"tr":{"name":"Frontonazal displazi","synonyms":["Medyan yarık yüz sendromu"]}},"xrefs":[{"source":"MONDO","code":"0016643","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16643","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538065","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1876203","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2392","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10089384","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":391479,"name":"OBSOLETE: Syndromic frontonasal dysplasia","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93453,"name":"Dysostosis with predominant craniofacial involvement","classifications":[147,156,199]}],"children":[{"orpha":1827,"name":"Acromelic frontonasal dysplasia","type":"Malformation syndrome"},{"orpha":1520,"name":"Craniofrontonasal dysplasia","type":"Malformation syndrome"},{"orpha":1521,"name":"Craniofrontonasal dysplasia-Poland anomaly syndrome","type":"Malformation syndrome"},{"orpha":157832,"name":"Craniorhiny","type":"Malformation syndrome"},{"orpha":1791,"name":"Frontofacionasal dysplasia","type":"Malformation syndrome"},{"orpha":228390,"name":"Frontonasal dysplasia-alopecia-genital anomalies syndrome","type":"Malformation syndrome"},{"orpha":521308,"name":"Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome","type":"Malformation syndrome"},{"orpha":306542,"name":"Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome","type":"Malformation syndrome"},{"orpha":391474,"name":"Frontorhiny","type":"Malformation syndrome"},{"orpha":398156,"name":"Oculoauriculofrontonasal syndrome","type":"Malformation syndrome"},{"orpha":1993,"name":"Pai syndrome","type":"Malformation syndrome"},{"orpha":488437,"name":"SIX2-related frontonasal dysplasia","type":"Malformation syndrome"},{"orpha":1519,"name":"SPECC1L-related hypertelorism syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.7,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER]"}],"phenotypes":null}