{"orpha":443995,"name":"Mandibulofacial dysostosis with alopecia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["MFDA"],"definition":"A rare mandibulofacial dysostosis characterized by the association with scalp alopecia and sparse eyebrows and eyelashes. Craniofacial dysmorphic features include zygomatic and mandibular dysplasia or hypoplasia, cleft palate, micrognathia, dental anomalies, auricular dysmorphism, and eyelid anomalies, among others. Patients may experience limited jaw mobility, glossoptosis, upper airway obstruction, and conductive hearing loss.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-443995/","orphanet_url":"https://www.orpha.net/en/disease/detail/443995","names":{"fr":{"name":"Dysostose mandibulo-faciale avec alopécie","synonyms":["MFDA"],"definition":"Dysostose mandibulo-faciale rare caractérisée par une alopécie du cuir chevelu en association avec des sourcils et cils clairsemés. Les dysmorphies craniofaciales comprennent, entre autres, la dysplasie ou l'hypoplasie zygomatique et mandibulaire, la fente palatine, la micrognathie, les malformations dentaires, la dysmorphie auriculaire et les malformations des paupières. Certains patients connaissent une amplitude limitée du mouvement de la mâchoire, une glossoptose, une obstruction des voies aériennes supérieures et une perte auditive de transmission."},"de":{"name":"Mandibulofaziale Dysostose mit Alopezie","synonyms":["Bilaterale und symmetrische oto-mandibuläre Dysplasie mit Alopezie","MFDA"],"definition":"Eine seltene mandibulofaziale Dysostose, die mit Alopezie der Kopfhaut und spärlichen Augenbrauen und Wimpern einhergeht. Zu den kraniofazialen Dysmorphien gehören u. a. Jochbein- und Unterkieferdysplasie oder -hypoplasie, Gaumenspalte, Mikrognathie, Zahnanomalien, Ohrmuscheldysmorphie und Augenlidanomalien. Bei den Patienten kann es zu einer eingeschränkten Kieferbeweglichkeit, Glossoptose, Obstruktion der oberen Atemwege und Schallleitungsschwerhörigkeit kommen."},"es":{"name":"Disostosis mandibulofacial con alopecia","synonyms":["Displasia oto-mandibular bilateral y simétrica con alopecia","MFDA"],"definition":"Es una disostosis mandibulofacial poco frecuente caracterizada por la asociación con alopecia del cuero cabelludo y cejas y pestañas escasas. Las características craneofaciales dismórficas incluyen displasia o hipoplasia cigomática y mandibular, paladar hendido, micrognatia, anomalías dentales, pabellones auriculares dismórficos y anomalías palpebrales, entre otras. Los pacientes pueden experimentar movilidad mandibular limitada, glosoptosis, obstrucción de las vías respiratorias superiores e hipoacusia conductiva."},"it":{"name":"Disostosi mandibolo-facciale con alopecia","synonyms":["Displasia otomandibolare bilaterale e simmetrica con alopecia","MFDA"],"definition":"Si tratta di una disostosi mandibolo-facciale rara, caratterizzata da alopecia del cuoio capelluto e sopracciglia e ciglia rade. I dismorfismi craniofacciali comprendono la displasia o l'ipoplasia degli zigomi e della mandibola, la palatoschisi, la micrognazia, le anomalie dei denti, i dismorfismi dell'orecchio e le anomalie delle palpebre. I pazienti possono presentare una limitazione della mobilità della mascella, glossoptosi, ostruzione delle vie aeree superiori e sordità di conduzione."},"nl":{"name":"Mandibulofaciale dysostose met alopecie","synonyms":["Bilaterale en symmetrische oto-mandibulaire dysplasie met alopecie","MFDA"],"definition":"Een zeldzame mandibulofaciale dysostose, gekarakteriseerd door de associatie van alopecie van scalp en schaarse wenkbrauwen en wimpers. Craniofaciale dysmorfe kenmerken zijn onder meer dysplasie of hypoplasie van jukbeen en mandibula, gespleten verhemelte, micrognathie, dentale anomalieën, auriculaire dysmorfie, en anomalieën van ooglid. Patiënten ervaren mogelijk beperkte mobiliteit van kaak, glossoptose, obstructie van bovenste luchtwegen, en conductief gehoorverlies."},"pt":{"name":"Disostose mandibulofacial com alopecia","synonyms":["MFDA"]},"pl":{"name":"Dyzostoza żuchwowo-twarzowa z łysieniem","synonyms":["MFDA","Obustronna i symetryczna dysplazja uszno-żuchwowa z łysieniem"]},"cs":{"name":"Mandibulofaciální dysostóza s alopecií","synonyms":["MFDA"]},"uk":{"name":"Мандибулофаціальний дизостоз з алопецією","synonyms":["MFDA"],"definition":"A rare mandibulofacial dysostosis characterized by the association with scalp alopecia and sparse eyebrows and eyelashes. Craniofacial dysmorphic features include zygomatic and mandibular dysplasia or hypoplasia, cleft palate, micrognathia, dental anomalies, auricular dysmorphism, and eyelid anomalies, among others. Patients may experience limited jaw mobility, glossoptosis, upper airway obstruction, and conductive hearing loss."},"zh":{"name":"下颌面骨发育不全伴脱发","synonyms":["MFDA"]},"tr":{"name":"Alopesi ile seyreden mandibulofasiyal dizostoz","synonyms":["MFDA"]}},"xrefs":[{"source":"OMIM","code":"616367","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q75.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014608","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4225349","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79364,"name":"Alopecia","classifications":[187]},{"orpha":481771,"name":"Genetic alopecia","classifications":[156]},{"orpha":155899,"name":"Mandibulofacial dysostosis","classifications":[147,156,199,200,209]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"EDNRA","name":"endothelin receptor type A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (gain of function) in","status":"Assessed","source":"25772936[PMID]","hgnc":"3179","ensembl":"ENSG00000151617","omim":"131243","loci":["4q31.22-q31.23"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"25772936[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25772936[PMID]"}],"phenotypes":null}