{"orpha":245,"name":"Nager syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Mandibulofacial dysostosis with preaxial limb anomalies","NAFD","Nager acrofacial dysostosis","Preaxial acrodysostosis"],"definition":"A congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-245/","orphanet_url":"https://www.orpha.net/en/disease/detail/245","names":{"fr":{"name":"Syndrome de Nager","synonyms":["Acrodysostose préaxiale","Dysostose acrofaciale de Nager","Dysostose mandibulo-faciale avec anomalies préaxiales des extrémités","NAFD"],"definition":"Le syndrome de Nager, aussi connu sous le nom de dysostose acro-faciale de Nager (NAFD) est un syndrome de malformation congénitale caractérisée par une dysostose mandibulo-faciale (hypoplasie malaire, micrognathie, malformations de l'oreille externe) et des anomalies pré-axiales variées des membres."},"de":{"name":"Nager-Syndrom","synonyms":["Akrodysostose, präaxiale","Dysostose, akrofaziale, Typ Nager","Mandibulofaziale Dysostose mit präaxialen Gliedmaßenanomalien","NAFD"],"definition":"Das Nager-Syndrom, auch als Akrofaziale Dysostose Nager (NAFD) bezeichnet, ist ein kongenitales Fehlbildungs-Syndrom mit mandibulo-fazialer Dystose (malare Hypoplasie, Mikrogenie, Fehlbildungen des Außenohrs) und unterschiedlichen präaxialen Gliedmaßen-Defekten."},"es":{"name":"Síndrome de Nager","synonyms":["Acrodisostosis preaxial","Disostosis acrofacial de Nager","Disostosis mandibulofacial con anomalías de las extremidades preaxiales","NAFD"],"definition":"Es un síndrome de malformaciones congénitas caracterizado por disostosis mandibulofacial (hipoplasia malar, micrognatia, malformaciones del oído externo) y defectos preaxiales de las extremidades variables."},"it":{"name":"Sindrome di Nager","synonyms":["Acrodisostosi preassiale","Disostosi acrofacciale di Nager","Disostosi mandibolofacciale con anomalie preassiali degli arti","NAFD"],"definition":"La sindrome di Nager, nota anche come disostosi acrofacciale di Nager (NAFD), è una sindrome malformativa congenita, caratterizzata da disostosi mandibolo-facciale (ipoplasia malare, micrognatia, malformazioni dell'orecchio esterno) e difetti preassiali variabili degli arti."},"nl":{"name":"Syndroom van Nager","synonyms":["Acrofaciale dysostose van Nager","Mandibulofaciale dysostose met preaxiale ledemaatanomalieën","NAFD","Preaxiale acrodysostose"],"definition":"Een congenitaal malformatiesyndroom gekarakteriseerd door mandibulofaciale dysostose (hypoplasie van jukbeen, micrognathie, malformaties van uitwendig oor) en variabele preaxiale ledemaatdefecten."},"pt":{"name":"Síndrome Nager","synonyms":["Disostose acro-facial, tipo Nager"],"definition":"Síndrome de malformação congénita caracterizada por distose mandibulofacial (hipoplasia malar, micrognatia, malformações do ouvido externo) e defeitos pré-axiais variáveis dos membros."},"pl":{"name":"Zespół Nagera","synonyms":["Dyzostoza kończynowo-twarzowa Nagera","Dyzostoza żuchwowo-twarzowa z przedosiowymi wadami kończyn","NAFD","Przedosiowa dyzostoza kończyn"]},"cs":{"name":"Nagerův syndrom","synonyms":["NAFD","Nagerova akrofaciální dysostóza","Preaxiální akrodysostóza","Mandibulofaciální dysostóza s preaxiálními končetinovými anomáliemi"]},"uk":{"name":"Синдром Нагера","synonyms":["Мандибулофаціальний дизостоз з преаксіальними аномаліями кінцівок","NAFD","Акрофаціальний дизостоз Нагера","Преаксіальний акродизостоз"],"definition":"A congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects."},"zh":{"name":"纳赫尔综合征","synonyms":["下颌面骨发育不全伴轴前性肢体畸形"]},"tr":{"name":"Nager sendromu","synonyms":["NAFD","preaksiyel akrodizostoz","Nager akrofasiyal dizostoz","Preaksiyel ekstremite anomalileri ile seyreden mandibulofasiyal dizostoz"]}},"xrefs":[{"source":"OMIM","code":"154400","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q75.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD25.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"274140112"},{"source":"MONDO","code":"0007943","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538184","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265245","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"498","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10084410","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":139036,"name":"Branchial arch or oral-acral syndrome","classifications":[147]},{"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":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":138050,"name":"Pierre Robin syndrome associated with branchial archs anomalies","classifications":[147,156,200,209]},{"orpha":98566,"name":"Syndromic eyelid coloboma","classifications":[147,156,189]},{"orpha":98576,"name":"Syndromic outer canthal malposition","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"SF3B4","name":"splicing factor 3b subunit 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22541558[PMID]","hgnc":"10771","ensembl":"ENSG00000143368","omim":"605593","loci":["1q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"ISBN:1437725562[OTHER]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_ISBN:1437725562[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"Finland","status":"Validated","source":"17119427[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0009601","label":"Aplasia/Hypoplasia of the thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010669","label":"Hypoplasia of the zygomatic bone","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002652","label":"Skeletal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005105","label":"Abnormal nasal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100840","label":"Aplasia/Hypoplasia of the eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006501","label":"Aplasia/Hypoplasia of the radius","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000413","label":"Atresia of the external auditory canal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002984","label":"Hypoplasia of the radius","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000652","label":"Lower eyelid coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007776","label":"Sparse lower eyelashes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000154","label":"Wide mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002814","label":"Abnormality of the lower limb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100335","label":"Non-midline cleft of the upper lip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009829","label":"Phocomelia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001199","label":"Triphalangeal thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000122","label":"Unilateral renal agenesis","frequency":"Occasional (29-5%)","criteria":null}]}}