{"orpha":1248,"name":"Maxillonasal dysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Binder syndrome","Maxillonasal dysostosis"],"definition":"A rare developmental anomaly characterized by midfacial hypoplasia affecting primarily the anterior part of the maxilla (premaxilla) and the nasal complex.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1248/","orphanet_url":"https://www.orpha.net/en/disease/detail/1248","names":{"fr":{"name":"Dysplasie maxillonasale","synonyms":["Dysostose maxillonasale","Syndrome de Binder"],"definition":"Anomalie rare du développement embryonnaire caractérisée par une hypoplasie médiofaciale affectant principalement la partie antérieure du maxillaire (prémaxillaire) et le complexe nasal."},"de":{"name":"Binder-Syndrom","synonyms":["Dysplasie, maxillonasale, Typ Binder"],"definition":"Eine seltene Entwicklungsanomalie, die durch eine Hypoplasie des Mittelgesichts gekennzeichnet ist und hauptsächlich den vorderen Teil des Oberkiefers (Prämaxilla) und den Nasenkomplex betrifft."},"es":{"name":"Displasia maxilonasal","synonyms":["Síndrome de Binder"],"definition":"Es una anomalía poco frecuente del desarrollo caracterizada por hipoplasia del tercio medio facial que afecta principalmente a la parte anterior del maxilar (premaxilar) y al complejo nasal."},"it":{"name":"Sindrome di Binder","synonyms":["Displasia maxillonasale, tipo Binder"]},"nl":{"name":"Maxillonasale dysplasie","synonyms":["Maxillonasale dysostose","Syndroom van Binder"],"definition":"Een zeldzame ontwikkelingsanomalie, gekenmerkt door hypoplasie van middengezicht die vooral het voorste deel van het bovenkaakbeen (premaxilla) en het nasale complex aantast."},"pt":{"name":"Displasia maxilonasal","synonyms":["Síndrome Binder"],"definition":"Anomalia rara do desenvolvimento caracterizada por hipoplasia da face média que afeta principalmente a parte anterior da maxila (pré-maxila) e o complexo nasal."},"pl":{"name":"Dysplazja szczękowo-nosowa","synonyms":["Dyzostoza szczękowo-nosowa","Zespół Bindera"]},"cs":{"name":"Maxillonazální dysplázie","synonyms":["Maxillonazální dysostóza","Binderův syndrom"]},"uk":{"name":"Щелепно-лицьова дисплазія","synonyms":["Синдром Біндера","Щелепно-носовий дизостоз"],"definition":"A rare developmental anomaly characterized by midfacial hypoplasia affecting primarily the anterior part of the maxilla (premaxilla) and the nasal complex."},"zh":{"name":"上颌窦-鼻发育异常","synonyms":["上颌窦-鼻发育异常"]},"tr":{"name":"Maksillonasal displazi","synonyms":["Binder sendromu","Maksillonasal dizostoz"]}},"xrefs":[{"source":"OMIM","code":"155050","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q75.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1099755052"},{"source":"MONDO","code":"0007953","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536036","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0220692","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6992","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10075843","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":728642,"name":"Genetic syndrome or malformation associated with head and neck malformations","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":156237,"name":"Syndrome or malformation associated with head and neck malformations","classifications":[147,200,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Multigenic/multifactorial"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"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:0012368","label":"Flat face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011892","label":"Low levels of vitamin K","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002000","label":"Short columella","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005288","label":"Abnormality of the nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010807","label":"Open bite","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004609","label":"Patchy distortion of vertebrae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009882","label":"Short distal phalanx of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001065","label":"Striae distensae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009804","label":"Tooth agenesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008428","label":"Vertebral clefting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010185","label":"Aplasia/Hypoplasia of the distal phalanges of the toes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Occasional (29-5%)","criteria":null}]}}