{"orpha":570,"name":"Moebius syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Möbius syndrome"],"definition":"A very rare congenital cranial dysinnervation disorder characterized by unilateral or bilateral non progressive congenital facial palsy (VII cranial nerve) with impairments of ocular abduction (VI cranial nerve). It can also be associated with other cranial nerves palsies, orofacial anomalies and limb defects.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-570/","orphanet_url":"https://www.orpha.net/en/disease/detail/570","names":{"fr":{"name":"Syndrome de Moebius","synonyms":["Syndrome de Möbius"],"definition":"Trouble congénital très rare de désinnervation crânienne, caractérisé par une paralysie faciale congénitale unilatérale ou bilatérale non progressive (7e nerf crânien) avec des troubles des mouvements oculaires en abduction (6e nerf crânien). Il peut également être associé à d'autres paralysies des nerfs crâniens, à des anomalies orofaciales et à des malformations des membres."},"de":{"name":"Moebius-Syndrom","synonyms":["Möbius-Syndrom"],"definition":"Eine sehr seltene angeborene kraniale Dysinnervationsstörung, die durch eine ein- oder beidseitige, nicht-progrediente angeborene Gesichtslähmung (Hirnnerv VII) mit Beeinträchtigung der Augenabduktion (Hirnnerv VI) gekennzeichnet ist. Sie kann auch mit anderen Hirnnervenlähmungen, orofazialen Anomalien und Gliedmaßendefekten verbunden sein."},"es":{"name":"Síndrome de Moebius","synonyms":["Síndrome de Möbius"],"definition":"Es un trastorno congénito por denervación craneal muy poco frecuente caracterizado por parálisis facial congénita uni- o bilateral (VII par craneal) no progresiva con trastornos de la abducción ocular (VI par craneal). También puede asociar parálisis de otros pares craneales, anomalías orofaciales y defectos de las extremidades."},"it":{"name":"Sindrome di Moebius","synonyms":["Sindrome di Möbius"],"definition":"La sindrome di Moebius (MBS) è una malattia congenita molto rara da disinnervazione del cranio, caratterizzata da paralisi facciale congenita mono- o bilaterale non progressiva (VII nervo cranico) con compromissione dell'abduzione oculare (VI nervo cranico). Può associarsi anche a paralisi di altri nervi cranici, anomalie orofacciali e difetti degli arti."},"nl":{"name":"Syndroom van Moebius","synonyms":["Syndroom van Möbius"],"definition":"Een zeer zeldzame congenitale craniale denervatiestoornis, gekenmerkt door unilaterale of bilaterale niet-progressieve congenitale aangezichtsverlamming (hersenzenuw VII) met stoornissen van oculaire abductie (hersenzenuw VI). Het kan ook geassocieerd zijn met andere hersenzenuwverlammingen, orofaciale anomalieën, en ledemaatdefecten."},"pt":{"name":"Síndrome Moebius","synonyms":["Diplegia facial congénita","Síndrome Möbius"]},"pl":{"name":"Zespół Moebiusa","synonyms":["Wrodzone porażenie twarzy","Zespół Möbiusa"],"definition":"Bardzo rzadkie wrodzone zaburzenie unerwienia czaszki charakteryzujące się jednostronnym lub obustronnym niepostępującym wrodzonym porażeniem twarzy (nerw czaszkowy VII) z upośledzeniem odwodzenia gałki ocznej (nerw czaszkowy VI). Może być również związane z porażeniem innych nerwów czaszkowych, wadami jamy ustnej i twarzy oraz wadami kończyn."},"cs":{"name":"Moebiův syndrom","synonyms":["Vrozená faciální diplegie","Möbiův syndrom"]},"uk":{"name":"Синдром Мебіуса","synonyms":["Синдром Мьобіуса"],"definition":"A very rare congenital cranial dysinnervation disorder characterized by unilateral or bilateral non progressive congenital facial palsy (VII cranial nerve) with impairments of ocular abduction (VI cranial nerve). It can also be associated with other cranial nerves palsies, orofacial anomalies and limb defects."},"zh":{"name":"Moebius综合征","synonyms":["先天性双侧面瘫"]},"tr":{"name":"Moebius sendromu","synonyms":["Möbius sendromu","Doğumsal fasiyal dipleji"]}},"xrefs":[{"source":"OMIM","code":"157900","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1902386985"},{"source":"MONDO","code":"0008006","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D020331","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0221060","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8549","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10030069","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":98518,"name":"Congenital cranial dysinnervation disorder","classifications":[147,156,181]},{"orpha":183576,"name":"Genetic branchial arch or oral-acral syndrome","classifications":[156]},{"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]},{"orpha":156224,"name":"Paralytic facial malformation","classifications":[147,156,209]},{"orpha":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[{"symbol":"PLXND1","name":"plexin D1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26068067[PMID]","hgnc":"9107","ensembl":"ENSG00000004399","omim":"604282","loci":["3q22.1"]},{"symbol":"REV3L","name":"REV3 like, DNA directed polymerase zeta catalytic subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26068067[PMID]","hgnc":"9968","ensembl":"ENSG00000009413","omim":"602776","loci":["6q21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":300.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":0.3,"area":"Worldwide","status":"Validated","source":"37868706[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.12,"area":"Netherlands","status":"Validated","source":"12913192[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.27,"area":"Italy","status":"Validated","source":"33827605[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.06,"area":"Italy","status":"Validated","source":"33827605[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001608","label":"Abnormality of the voice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010628","label":"Facial palsy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000298","label":"Mask-like facies","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000194","label":"Open mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000602","label":"Ophthalmoplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009751","label":"Aplasia of the pectoralis major muscle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040071","label":"Abnormal morphology of ulna","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004408","label":"Abnormality of the sense of smell","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004050","label":"Absent hand","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005914","label":"Aplasia/Hypoplasia involving the metacarpal bones","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006501","label":"Aplasia/Hypoplasia of the radius","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009601","label":"Aplasia/Hypoplasia of the thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010295","label":"Aplasia/Hypoplasia of the tongue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002804","label":"Arthrogryposis multiplex congenita","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000498","label":"Blepharitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100783","label":"Breast aplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001522","label":"Death in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000044","label":"Hypogonadotropic hypogonadism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007565","label":"Multiple cafe-au-lait spots","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009804","label":"Tooth agenesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null}]}}