{"orpha":79113,"name":"Mandibulofacial dysostosis-microcephaly syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["MFDM syndrome","Mandibulofacial dysostosis, Guion-Almeida type"],"definition":"A rare genetic, multiple congenital malformation syndrome characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism (with significantly overlap to Treacher Collins syndrome), developmental delay, and intellectual disability.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79113/","orphanet_url":"https://www.orpha.net/en/disease/detail/79113","names":{"fr":{"name":"Syndrome de dysostose mandibulo-faciale-microcéphalie","synonyms":["Syndrome MFDM"],"definition":"Syndrome génétique rare d'anomalies congénitales multiples caractérisé par une hypoplasie malaire et mandibulaire, une microcéphalie, des malformations de l'oreille associées à une surdité de transmission, une dysmorphie faciale caractéristique (recoupement important avec le syndrome de Treacher Collins), un retard de développement et une déficience intellectuelle."},"de":{"name":"Mandibulo-faziale Dysostose-Mikrozephalie-Syndrom","synonyms":["Kleinwuchs - Intelligenzminderung - mandibulo-faziale Dysostose - Mikrozephalie - Gaumenspalte","MFDM-Syndrom","Mandibulo-faziale Dysostose Typ Guion-Almeida"],"definition":"Ein seltenes genetisches Syndrom mit multiplen kongenitalen Fehlbildungen, das durch Malar- und Mandibularhypoplasie, Mikrozephalie, Fehlbildungen der Ohren mit damit verbundener Schallleitungsschwerhörigkeit, ausgeprägte Gesichtsdysmorphie (mit deutlichen Überschneidungen zum Treacher-Collins-Syndrom), Entwicklungsverzögerung und intellektuelle Beeinträchtigung gekennzeichnet ist."},"es":{"name":"Síndrome de disostosis mandibulofacial-microcefalia","synonyms":["Disostosis mandibulofacial tipo Guion-Almeida","Síndrome MFDM"],"definition":"Es un síndrome de múltiples malformaciones congénitas, de origen genético y poco frecuente, caracterizado por hipoplasia malar y mandibular, microcefalia, malformación de los pabellones auriculares con hipoacusia conductiva asociada, dismorfia facial distintiva (significativamente solapante con el síndrome de Treacher Collins), retraso psicomotor y discapacidad intelectual."},"it":{"name":"Sindrome disostosi mandibolofacciale-microcefalia","synonyms":["Disostosi mandibolofacciale, tipo Guion-Almeida","Ritardo della crescita - deficit cognitivo - disostosi mandibolofacciale - microcefalia - palatoschisi","Sindrome MFDM"],"definition":"La sindrome disostosi mandibolofacciale-microcefalia (MFDM) è una malattia genetica rara da malformazioni congenite multiple, caratterizzata da ipoplasia malare e mandibolare, microcefalia, malformazioni dell'orecchio con sordità di conduzione, dismorfismi facciali tipici (con significativa sovrapposizione alla sindrome di Treacher Collins), ritardo dello sviluppo e disabilità intellettiva."},"nl":{"name":"Mandibulofaciale dysostose - microcefalie-syndroom","synonyms":["MFDM-syndroom","Mandibulofaciale dysostose, Guion-Almeida-type"],"definition":"Een zeldzaam, genetisch syndroom met multipele congenitale malformaties, gekarakteriseerd door hypoplasie van jukbeenderen en mandibula, microcefalie, oormalformaties met geassocieerd conductief gehoorverlies, kenmerkende faciale dysmorfie (met significante overlap met syndroom van Treacher-Collins), ontwikkelingsachterstand, en intellectuele achterstand."},"pt":{"name":"Síndrome de disostose mandibulo-facial-microcefalia","synonyms":["Disostose mandibulo-facial, tipo Guion-Almeida","Síndrome MFDM"]},"pl":{"name":"Dyzostoza żuchwowo-twarzowa, typ Guiona i Almeida","synonyms":["MFDM syndrome","Zespół MFDM"]},"cs":{"name":"Syndrom zahrnující mandibulofaciální dysostózu a mikrocefalii","synonyms":["MFDM syndrom","Mandibulofaciální dysostóza, Guion-Almeidové typ","Syndrom zahrnující opožděný růst, mentální retardaci, mandibulofaciální dysostózu, mikrocefalii a rozštěp patra"]},"uk":{"name":"Синдром щелепно-лицевого дизостозу-мікроцефалії","synonyms":["Мандибулофаціальний дизостоз, тип Гійона-Алмейда","Синдром MFDM"],"definition":"A rare genetic, multiple congenital malformation syndrome characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism (with significantly overlap to Treacher Collins syndrome), developmental delay, and intellectual disability."},"zh":{"name":"颌面部发育不良-小头畸形综合征","synonyms":["颌面骨发育不良，Guion-Almeida型"]},"tr":{"name":"Mandibulofasiyal disostoz-mikrosefali sendromu","synonyms":["MFDM sendromu","Mandibulofasiyal dizostoz, Guion-Almeida tipi"]}},"xrefs":[{"source":"OMIM","code":"610536","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012516","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537405","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1864652","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10056","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":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":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]}],"children":[],"genes":[{"symbol":"EFTUD2","name":"elongation factor Tu GTP binding domain containing 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22305528[PMID]_24999515[PMID]","hgnc":"30858","ensembl":"ENSG00000108883","omim":"603892","loci":["17q21.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":107.0,"area":"Worldwide","status":"Validated","source":"26507355[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26507355[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0009738","label":"Abnormality of the antihelix","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000356","label":"Abnormality of the outer ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011268","label":"Absent tragus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","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:0011968","label":"Feeding difficulties","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000327","label":"Hypoplasia of the maxilla","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008609","label":"Morphological abnormality of the middle ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005484","label":"Secondary microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000243","label":"Trigonocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011272","label":"Underdeveloped tragus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000191","label":"Accessory oral frenulum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000413","label":"Atresia of the external auditory canal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009748","label":"Large earlobe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000396","label":"Overfolded helix","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001177","label":"Preaxial hand polydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}