{"orpha":1790,"name":"Hypomandibular faciocranial dysostosis","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1790/","orphanet_url":"https://www.orpha.net/en/disease/detail/1790","names":{"fr":{"name":"Dysostose facio-crânienne hypomandibulaire","definition":"La dysostose facio-crânienne hypomandibulaire est une malformation crânienne caractérisée par une dysmorphie faciale (proptosis, bosse frontale, hypoplasie de l'étage moyen du visage et des arcs zygomatiques, nez court et narines antéversées, microstomie avec persistance de la membrane bucco pharyngienne, hypoglossie sévère avec glossoptose, hypoplasie mandibulaire sévère et une implantation basse des oreilles), associée à une hypoplasie laryngée et une craniosynostose. Les autres caractéristiques sont variables et incluent une fente palatine, un colobome du nerf optique et une sténose choanale."},"de":{"name":"Dysostose, faziokraniale hypomandibuläre"},"es":{"name":"Disostosis faciocranenana hipomandibular","definition":"La disostosis craneofacial hipomandibular es una malformación craneal caracterizada por dismorfismo facial (proptosis, frente prominente, hipoplasia facial media y de los arcos cigomáticos, nariz corta con las fosas nasales antevertidas, microstomia con persistencia de la membrana bucofaríngea, hipoglosia grave con glosoptosis, hipoplasia mandibular grave y orejas de implantación baja) asociado con hipoplasia laríngea y craneosinostosis. Otros rasgos variables incluyen paladar hendido, coloboma del nervio óptico y estenosis coanal."},"it":{"name":"Disostosi faciocraniale ipomandibolare","definition":"La disostosi cranio-facciale ipomandibolare è una malformazione cranica caratterizzata da dismorfismi facciali (ptosi, fronte bombata, ipoplasia degli archi zigomatici e della porzione medio-facciale, naso corto con narici anteverse, microstomia con persistenza della membrana orofaringea, ipoglossia grave con glossoptosi, ipoplasia mandibolare grave e orecchie basse), associati ad ipoplasia laringea e cranio-sinostosi. Altri segni variabili comprendono la palatoschisi, il coloboma del nervo ottico e la stenosi delle coane."},"nl":{"name":"Hypomandibulaire faciocraniale dysostose","definition":"Hypomandibulaire faciocraniale dysostose is een schedelmalformatie die gekarakteriseerd wordt door faciale dysmorfie (proptosis, boller voorhoofd, hypoplasie van het middengezicht en de jukbeenderen, korte neus met anteversie van de neusgaten, microstomie met persisterend buccofaryngeaal membraan, ernstige hypoglossie met glossoptosis, ernstige mandibulaire hypoplasie, en laagstaande oren), geassocieerd met hypoplasie van de larynx en craniosynostose. Andere variabele kenmerken zijn onder meer gespleten verhemelte, coloboom van de oogzenuw, en choanale stenose."},"pt":{"name":"Disostose facio-cranio-hipomandibular"},"pl":{"name":"Dyzostoza twarzowo-czaszkowa z niedorozwojem żuchwy"},"cs":{"name":"Hypomandibulární faciokraniální dysostóza"},"uk":{"name":"Піднижньощелепний черепнолицьовий дизостоз","definition":"Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis."},"zh":{"name":"下颌面颅骨发育不良"},"tr":{"name":"Hipomandibular fasiyokraniyal disostoz"}},"xrefs":[{"source":"OMIM","code":"241310","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q75.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009425","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537154","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1855848","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2907","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98038,"name":"Cranial malformation","classifications":[147]},{"orpha":183542,"name":"Genetic cranial malformation","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"8135280[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8135280[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0005607","label":"Abnormal tracheobronchial morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010295","label":"Aplasia/Hypoplasia of the tongue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005439","label":"Maxillozygomatic hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000193","label":"Bifid uvula","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000452","label":"Choanal stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008749","label":"Laryngeal hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000588","label":"Optic disc coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000008","label":"Abnormal morphology of female internal genitalia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001522","label":"Death in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002777","label":"Tracheal stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000243","label":"Trigonocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Occasional (29-5%)","criteria":null}]}}