{"orpha":1827,"name":"Acromelic frontonasal dysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["AFND","Acromelic frontonasal dysostosis","Toriello syndrome"],"definition":"A rare frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1827/","orphanet_url":"https://www.orpha.net/en/disease/detail/1827","names":{"fr":{"name":"Dysplasie frontonasale acromélique","synonyms":["Dysostose fronto-nasale acromélique","Syndrome de Toriello"],"definition":"La dysplasie frontonasale acromélique est un variant rare de la dysplasie frontonasale. Elle est caractérisée par une dysmorphie faciale (fontanelle large, hypertélorisme, pointe nasale bifide, fente nasale, brachycéphalie, fente médiane du visage, bouche en forme de carpe), des malformations cérébrales (lipome inter-hémisphérique, agénésie du corps calleux) et des membres (hypoplasie/aplasie tibiale, pieds bots, polydactylie préaxiale symétrique des pieds, ongles des halluces épaissis et en forme de club au niveau bilatéral), ainsi qu'un déficit intellectuel. Les autres manifestations rapportées parfois incluent un bulbe olfactif absent, un hypopituitarisme et une cryptorchidie."},"de":{"name":"Dysplasie, akromele frontonasale","synonyms":["AFND","Dysostose, akromele frontonasale","Toriello-Syndrom"]},"es":{"name":"Displasia frontonasal acromélica","synonyms":["DFNA","Disostosis frontonasal acromélica","Síndrome de Toriello"],"definition":"Es una variante poco frecuente de displasia frontonasal caracterizada por diversas malformaciones craneofaciales (fontanela anterior amplia, hipertelorismo ocular, punta nasal bífida, hendidura nasal, braquicefalia, hendidura facial media, boca en carpa), cerebrales (lipoma interhemisférico, agenesia del cuerpo calloso), y de las extremidades (hipoplasia/aplasia tibial, pie equinovaro, polidactilia preaxial simétrica de los pies, y ensanchamiento/engrosamiento bilateral de las uñas de los halluces), así como discapacidad intelectual. Otras manifestaciones ocasionalmente descritas incluyen la ausencia de bulbos olfatorios, hipopituitarismo y criptorquidia."},"it":{"name":"Displasia frontonasale acromelica","synonyms":["Sindrome di Toriello"],"definition":"La displasia frontonasale acromelica (AFND) è una variante rara della displasia fronto-nasale, caratterizzata da malformazioni craniofacciali caratteristiche (fontanella ampia, ipertelorismo, bifidità della punta del naso, schisi nasale, brachicefalia, schisi mediana del viso, bocca da carpa), cerebrali (lipoma interemisferico, agenesia del corpo calloso) e degli arti (ipoplasia/aplasia della tibia, piede equino, polidattilia preassiale simmetrica dei piedi, ippocratismo bilaterale e ispessimento delle unghie degli alluci), associate a disabilità intellettiva. Altri segni occasionali sono l'assenza dei bulbi olfattivi, l'ipopituitarismo e il criptorchidismo."},"nl":{"name":"Acromelische frontonasale dysplasie","synonyms":["AFND","Acromelische frontonasale dysostose","Syndroom van Toriello"],"definition":"Een zeldzame frontonasale dysplasie, gekarakteriseerd door typische craniofaciale malformaties (grote fontanel, hypertelorisme, bifide neuspunt, gespleten neus, brachycefalie, mediane aangezichtsspleet, karpermond), en malformaties van hersenen (interhemisferisch lipoom, agenesie van corpus callosum) en ledematen (hypoplasie/aplasie van scheenbeen, klompvoet, symmetrische preaxiale polydactylie van de voeten, en bilateraal verbrede en verdikte nagels van de grote tenen), alsook intellectuele achterstand. Andere manifestaties die soms gerapporteerd worden, zijn onder meer afwezige reukkolven, hypopituïtarisme en cryptorchisme."},"pt":{"name":"Displasia fronto-nasal acromélica","synonyms":["AFND","Disostose fronto-nasal acromélica","Síndrome Toriello"]},"pl":{"name":"Kończynowa dysplazja czołowo-nosowa","synonyms":["Zespół Toriello","AFND","Zespół Toriello","Kończynowa dyzostoza czołowo-nosowa"]},"cs":{"name":"Akromelická frontonazální dysplázie","synonyms":["Toriellové syndrom"]},"uk":{"name":"Акромелічна лобно-носова дисплазія","synonyms":["Акромелічний лобно-носовий дизостоз","AFND","Синдром Торіелло"],"definition":"A rare frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism."},"zh":{"name":"肢端额鼻发育不良","synonyms":["肢端额鼻骨发育不全"]},"tr":{"name":"Akromelik frontonazal displazi","synonyms":["AFND","Toriello sendromu","Akromelik frontonazal dizostoz"]}},"xrefs":[{"source":"OMIM","code":"603671","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":"index","validated":true,"icd11_uri":"82602737"},{"source":"MONDO","code":"0011359","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535657","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796182","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5539","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":364574,"name":"Acrofacial dysostosis","classifications":[147,156,199]},{"orpha":250,"name":"Frontonasal dysplasia","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]}],"children":[],"genes":[{"symbol":"ZSWIM6","name":"zinc finger SWIM-type containing 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25105228[PMID]","hgnc":"29316","ensembl":"ENSG00000130449","omim":"615951","loci":["5q12.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":22.0,"area":"Worldwide","status":"Validated","source":"15264282[PMID]_25105228[PMID]_26706854[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_15264282[PMID]_25105228[PMID]_26706854[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-08-20","source":"1733166[PMID]_25105228[PMID]_26706854[PMID]","terms":[{"hpo":"HP:0008388","label":"Abnormal toenail morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002056","label":"Abnormality of the glabella","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000456","label":"Bifid nasal tip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011803","label":"Bifid nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002084","label":"Encephalocele","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","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:0000239","label":"Large fontanelles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009099","label":"Median cleft palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002435","label":"Meningocele","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006866","label":"Midline central nervous system lipomas","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001841","label":"Preaxial foot polydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009928","label":"Thick nasal alae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002190","label":"Choroid plexus cyst","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040326","label":"Hypoplasia of the olfactory bulb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000161","label":"Median cleft lip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010627","label":"Anterior pituitary hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005772","label":"Aplasia/Hypoplasia of the tibia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040075","label":"Hypopituitarism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002690","label":"Large sella turcica","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003065","label":"Patellar hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006951","label":"Retrocerebellar cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002781","label":"Upper airway obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025247","label":"Dermoid cyst","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Very rare (<4-1%)","criteria":null}]}}