{"orpha":306542,"name":"Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["ALX1-related frontonasal dysplasia","Frontonasal dysplasia type 3"],"definition":"Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome is a rare, genetic, orofacial clefting malformation syndrome characterized by severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphtalmia and hypertelorism, frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-306542/","orphanet_url":"https://www.orpha.net/en/disease/detail/306542","names":{"fr":{"name":"Syndrome de dysplasie frontonasale-microphtalmie sévère-fente faciale sévère","synonyms":["Dysplasie fronto-nasale liée à ALX1","Dysplasie fronto-nasale type 3"],"definition":"Syndrome génétique rare de malformation avec fente oro-faciale caractérisé par une dysplasie frontonasale sévère et une fente palatine complète, une fente faciale, une microphtalmie extrême et un hypertélorisme, souvent en association avec un colobome de la paupière, des cils/sourcils clairsemés ou absents, un pont nasal large et une hypoplasie des ailes du nez, des oreilles orientées vers l'arrière d'implantation basse et un appendice caudal dans la région sacrée."},"de":{"name":"Fronto-nasale Dysplasie-schwere Mikrophthalmie-Gesichtsspalten-Syndrom","synonyms":["ALX1-abhängige fronto-nasale Dysplasie","Dysplasie, frontonasale, Typ 3"]},"es":{"name":"Síndrome de displasia frontonasal-microftalmia grave-fisura facial grave","synonyms":["Displasia frontonasal asociada al gen ALX1","Displasia frontonasal tipo 3"],"definition":"El síndrome de displasia frontonasal - microftalmia grave - fisura facial grave es un síndrome malformativo de hendidura orofacial, genético y poco frecuente, caracterizado por displasia frontonasal grave con paladar hendido completo, hendidura facial, microftalmia extrema e hipertelorismo, asociado frecuentemente a coloboma del párpado, pestañas / cejas ausentes o escasas, puente nasal ancho con ala nasal hipoplásica y orejas de baja implantación y rotadas posteriormente, así como apéndice caudal en la región sacra."},"it":{"name":"Sindrome da displasia frontonasale e grave microftalmia e schisi facciale","synonyms":["Displasia frontonasale ALX1-correlata"],"definition":"La sindrome che associa la displasia frontonasale e la grave microftalmia e la schisi facciale è una malattia genetica rara con schisi orofacciali, caratterizzata da displasia frontonasale severa con palatoschisi completa, schisi facciale, microftalmia estrema ed ipertelorismo, spesso con colobomi palpebrali, sopracciglia/ciglia rade o assenti, sella nasale ampia con ali ipoplasiche, orecchie a basso impianto ruotate posteriormente ed appendice caudale nella regione sacrale."},"nl":{"name":"Frontonasale dysplasie - ernstige microftalmie - ernstige aangezichtsspleet-syndroom","synonyms":["ALX1-gerelateerde frontonasale dysplasie","Frontonasale dysplasie type 3"],"definition":"Frontonasale dysplasie - ernstige microftalmie - ernstige aangezichtsspleet-syndroom is een zeldzaam, genetisch syndroom en malformatie met orofaciale spleten, en wordt gekarakteriseerd door ernstige frontonasale dysplasie met volledig gespleten verhemelte, aangezichtsspleet, extreme microftalmie en hypertelorisme, frequent geassocieerd met colobomen van de oogleden, schaarse of afwezige wimpers/wenkbrauwen, brede neusbrug met hypoplastische neusvleugels, laagstaande en naar achteren gedraaide oren, en caudaal aanhangsel in de sacrale regio."},"pt":{"name":"Síndrome de displasia frontonasal – microftalmia grave – fenda facial grave"},"pl":{"name":"Zespół dysplazja czołowo-nosowa - ciężka mikroftalmia - ciężki rozszczep twarzy","synonyms":["Dysplazja czołowo-nosowa związana z ALX1"]},"cs":{"name":"Syndrom zahrnující frontonazální dysplázii, těžkou mikroftalmii a těžké faciální rozštěpy","synonyms":["ALX1-vázaná frontonazální dysplázie"]},"uk":{"name":"Синдром фронтоназальної дисплазії-тяжкої мікрофтальмії-тяжкого розщеплення обличчя","synonyms":["Фронтоназальна дисплазія, повязана з ALX1","Фронтоназальна дисплазія типу 3"],"definition":"Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome is a rare, genetic, orofacial clefting malformation syndrome characterized by severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphtalmia and hypertelorism, frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region."},"zh":{"name":"额鼻发育不良-重度小眼畸形-重度面裂综合征","synonyms":["ALX1基因相关额鼻发育不良"],"definition":"额鼻发育不良-重度小眼畸形-严重面裂是一种罕见的遗传性口面部裂畸形综合征，其特征是重度额鼻发育不良，伴有完全性腭裂、面部裂、极度小眼畸形和斜视，常伴有眼睑缺损、睫毛/眉毛稀疏或缺失，鼻梁较宽，鼻翼发育不良，低位耳，耳后旋耳，骶骨区尾部附属物。"},"tr":{"name":"Frontonazal displazi-ağır mikroftalmi-ağır yüz yarığı sendromu","synonyms":["Frontonazal displazi tip 3","ALX1-ilişkili frontonazal displazi"]}},"xrefs":[{"source":"OMIM","code":"613456","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013271","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751077","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":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]}],"children":[],"genes":[{"symbol":"ALX1","name":"ALX homeobox 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20451171[PMID]","hgnc":"1494","ensembl":"ENSG00000180318","omim":"601527","loci":["12q21.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"20451171[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-08-22","source":"20451171[PMID]","terms":[{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009119","label":"Aplasia/Hypoplasia of the frontal sinuses","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011803","label":"Bifid nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000625","label":"Eyelid coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002006","label":"Facial cleft","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040019","label":"Finger clinodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005466","label":"Hypoplasia of the frontal bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005258","label":"Pectoral muscle hypoplasia/aplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000653","label":"Sparse eyelashes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000349","label":"Widow's peak","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004423","label":"Cranium bifidum occultum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006931","label":"Pericallosal lipoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Occasional (29-5%)","criteria":null}]}}