{"orpha":1791,"name":"Frontofacionasal dysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Gollop syndrome"],"definition":"A rare genetic disease characterized by variable multiple congenital craniofacial anomalies, including brachycephaly, cranium bifidum occultum, hypertelorism, midface hypoplasia, nasal hypoplasia, or cleft lip/palate, among others, as well as abnormalities of the eyes and eyelids. Encephalocele and spina bifida have also been reported in association.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1791/","orphanet_url":"https://www.orpha.net/en/disease/detail/1791","names":{"fr":{"name":"Dysplasie fronto-facio-nasale","synonyms":["Syndrome de Gollop"],"definition":"Maladie génétique rare caractérisée par de multiples anomalies craniofaciales congénitales variables, à savoir une brachycéphalie, le cranium bifidum occultum, un hypertélorisme, une hypoplasie de l'étage moyen de la face, une hypoplasie nasale ou une fente labiopalatine, entre autres, ainsi que des anomalies des yeux et des paupières. Des cas d'association avec une encéphalocèle et un spina bifida ont également été rapportés."},"de":{"name":"Dysplasie, fronto-fazio-nasale","synonyms":["Gollop-Syndrom"],"definition":"Eine seltene genetische Erkrankung, die durch verschiedene angeborene kraniofaziale Anomalien gekennzeichnet ist, darunter Brachyzephalie, okkulter Bifida cranii, Hypertelorismus, Mittelgesichtshypoplasie, Nasenhypoplasie oder Lippen-/Gaumenspalte sowie Anomalien der Augen und Augenlider. Einige Fälle waren mit Enzephalozele und Spina bifida assoziiert."},"es":{"name":"Displasia frontofacionasal","synonyms":["Síndrome de Gollop","Síndrome óculo aurículo fronto nasal"],"definition":"Es una enfermedad poco frecuente de origen genético caracterizada por múltiples anomalías craneofaciales congénitas variables, que incluyen braquicefalia, cráneo bífido oculto, hipertelorismo, hipoplasia mediofacial, hipoplasia nasal o hendidura labio/palatina, entre otras, así como anomalías oculares y palpebrales. También se ha descrito la asociación de encefalocele y espina bífida."},"it":{"name":"Displasia fronto-facio-nasale","synonyms":["Sindrome di Gollop","Sindrome oculo-auriculo-fronto-nasale"]},"nl":{"name":"Fronto-facio-nasale dysplasie","synonyms":["Gollopsyndroom"],"definition":"Een zeldzame, genetische aandoening, gekenmerkt door variabele multipele congenitale craniofaciale anomalieën, waaronder brachycefalie, cranium bifidum occultum, hypertelorisme, hypoplasie van middengezicht, nasale hypoplasie, of gespleten lip/gehemelte, alsook afwijkingen van ogen en oogleden. Associatie van encefalocele en spina bifida werd ook reeds gerapporteerd."},"pt":{"name":"Disostose fronto-facio-nasal","synonyms":["Síndrome Gollop","Síndrome óculo-auriculo-fronto-nasal"],"definition":"Doença genética rara caracterizada por anomalias craniofaciais congénitas múltiplas e variáveis, incluindo braquicefalia, crânio bífido oculto, hipertelorismo, hipoplasia do andar médio da face, hipoplasia nasal ou fenda labial/palatina, entre outras, bem como anomalias dos olhos e das pálpebras. Encefalocele e espinha bífida também foram reportadas em associação."},"pl":{"name":"Dysplazja czołowo-twarzowo-nosowa","synonyms":["Zespół Gollopa"],"definition":"Rzadka genetycznie uwarunkowana choroba charakteryzująca się różnymi wrodzonymi anomaliami czaszkowo-twarzowymi, w tym między innymi brachycefalią, utajonym rozszczepem czaszki, hiperteloryzmem, hipoplazją środkowej części twarzy, hipoplazją nosa lub rozszczepem wargi/podniebienia, a także nieprawidłowościami oczu i powiek. Zgłaszano także wspówystępowanie przepukliny mózgowej i rozszczepu kręgosłupa."},"cs":{"name":"Frontofacionazální dysplázie","synonyms":["Gollopův syndrom"]},"uk":{"name":"Фронтофаціоназальна дисплазія","synonyms":["Синдром Голлопа"],"definition":"A rare genetic disease characterized by variable multiple congenital craniofacial anomalies, including brachycephaly, cranium bifidum occultum, hypertelorism, midface hypoplasia, nasal hypoplasia, or cleft lip/palate, among others, as well as abnormalities of the eyes and eyelids. Encephalocele and spina bifida have also been reported in association."},"zh":{"name":"额面鼻发育不良","synonyms":["Gollop综合征"]},"tr":{"name":"Frontofasiyonasal displazi","synonyms":["Gollop sendromu"]}},"xrefs":[{"source":"OMIM","code":"229400","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q75.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD25.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009247","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538063","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931720","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2390","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":139036,"name":"Branchial arch or oral-acral syndrome","classifications":[147]},{"orpha":250,"name":"Frontonasal dysplasia","classifications":[147,156,199]},{"orpha":183576,"name":"Genetic branchial arch or oral-acral syndrome","classifications":[156]},{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":141234,"name":"Median facial cleft","classifications":[147,209]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":98565,"name":"Syndromic ankyloblepharon filiforme adnatum","classifications":[147,156,189]},{"orpha":98566,"name":"Syndromic eyelid coloboma","classifications":[147,156,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":14.0,"area":"Worldwide","status":"Validated","source":"26495166[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26495166[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002006","label":"Facial cleft","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100335","label":"Non-midline cleft of the upper lip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000636","label":"Upper eyelid coloboma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007708","label":"Absent inner eyelashes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100840","label":"Aplasia/Hypoplasia of the eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000456","label":"Bifid nasal tip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001088","label":"Brushfield spots","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002084","label":"Encephalocele","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007036","label":"Hypoplasia of olfactory tract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001140","label":"Limbal dermoid","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004132","label":"Dimple on nasal tip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000482","label":"Microcornea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001482","label":"Subcutaneous nodule","frequency":"Occasional (29-5%)","criteria":null}]}}