{"orpha":1131,"name":"X-linked mandibulofacial dysostosis","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Mandibulofacial dysostosis, Toriello type","X-linked branchial arch syndrome","X-linked mandibulofacial dysostosis with limb anomalies"],"definition":"X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1131/","orphanet_url":"https://www.orpha.net/en/disease/detail/1131","names":{"fr":{"name":"Dysostose mandibulo-faciale liée à l'X","synonyms":["Dysostose mandibulo-faciale avec anomalies des extrémités liée à l'X","Dysostose mandibulo-faciale, type Toriello","Syndrome de l'arc branchial lié à l' X"],"definition":"La dysostose mandibulo-faciale liée à l'X est un syndrome d'anomalies congénitales multiples extrêmement rare, caractérisé par une microcéphalie, une hypoplasie malaire, des fentes palpébrales obliques en bas et en dehors, un palais ogival, des oreilles basses et proéminentes, une micrognathie, une petite taille, une perte auditive bilatérale et des troubles de l'apprentissage. Occasionnellement, des caractéristiques additionnelles sont observées, telles qu'une cryptorchidie bilatérale, des lésions valvulaires cardiaques, une asymétrie corporelle et un pectus excavatum."},"de":{"name":"Dysostose, mandibulofaziale, X-chromosomale","synonyms":["Dysostose, mandibulofaziale, Typ Toriello","Kiemenbogen-Syndrom, X-chromosomales","X-chromosomale mandibulofaziale Dysostose mit Extremitätenanomalien"],"definition":"Die X-chromosomale mandibulofaziale Dysostose ist charakterisiert durch Mikrozephalie, Malarhypoplasie mit abwärts gerichteten Palpebralspalten, stark gewölbten Gaumen, scheinbar niedrig angesetzte und abstehende Ohren, Mikrognathie, Kleinwuchs, bilateralen Hörverlust und Lernschwäche. Gelegentlich wurden zusätzliche Merkmale wie bilateraler Kryptorchismus, Herzklappenläsionen, Körperasymmetrie und Pektus excavatum beobachtet."},"es":{"name":"Disostosis mandibulofacial ligada al cromosoma X","synonyms":["Disostosis mandibulofacial ligada al cromosoma X con anomalías de las extremidades","Disostosis mandibulofacial tipo Toriello","Síndrome del arco branquial ligado al cromosoma X"],"definition":"La disostosis mandibulofacial ligada al X es un síndrome con anomalías congénitas múltiples extremadamente poco frecuente que se caracteriza por microcefalia, hipoplasia de maxilar superior con fisuras palpebrales oblicuas hacia abajo, paladar ojival, orejas prominentes y de aparente implantación baja, micrognatia, estatura baja, pérdida auditiva bilateral y dificultades de aprendizaje. En ocasiones, se han observado rasgos adicionales tales como criptorquidia bilateral, lesiones valvulares cardíacas, asimetría corporal y pectus excavatum."},"it":{"name":"Disostosi mandibolofacciale legata all'X","synonyms":["Disostosi mandibolofacciale legata all'X con difetti degli arti","Disostosi mandibolofacciale, tipo Toriello","Sindrome dell'arco branchiale legata all'X"],"definition":"La disostosi mandibolo-facciale legata all'X è una sindrome molto rara da difetti congeniti multipli, caratterizzata da microcefalia, ipoplasia malare con rime palpebrali oblique verso il basso, palato ogivale, orecchie apparentemente basse e anteverse, micrognatia, bassa statura, ipoacusia bilaterale e difficoltà di apprendimento. Occasionalmente possono essere presenti altri segni come il criptorchidismo bilaterale, le lesioni delle valvole cardiache, l'asimmetria del corpo e il pectus excavatum."},"nl":{"name":"X-gebonden mandibulofaciale dysostose","synonyms":["Mandibulofaciale dysostose, Toriello-type","X-gebonden kieuwboogsyndroom","X-gebonden mandibulofaciale dysostose met ledemaatanomalieën"],"definition":"X-gebonden mandibulofaciale dysostose is een uiterst zeldzaam syndroom met multipele aangeboren afwijkingen, gekenmerkt door microcefalie, hypoplasie van de jukbeenderen met schuin naar beneden gerichte oogspleten, sterk gebogen gehemelte, schijnbaar laag ingeplante flaporen, micrognathie, kleine gestalte, bilateraal gehoorverlies en leerstoornissen. Af en toe worden extra kenmerken waargenomen zoals bilaterale cryptorchidie, hartkleplaesies, lichaamsasymmetrie en pectus excavatum."},"pt":{"name":"Disostose mandibulofacial ligada ao X","synonyms":["Síndrome arco branquial ligada ao X"]},"pl":{"name":"Dyzostoza żuchwowo-twarzowa sprzężona z chromosomem X","synonyms":["Dyzostoza żuchwowo-twarzowa sprzężona z chromosomem X z anomaliami kończyn","Dyzostoza żuchwowo-twarzowa, typu Toriello","Zespół łuku skrzelowego sprzężonego z chromosomem X"],"definition":"Dyzostoza żuchwowo-twarzowa sprzężona z chromosomem X jest niezwykle rzadkim zespołem wad wrodzonych, który cechuje małogłowie, niedorozwój kości jarzmowej, skośno dolne ustawienie szpar powiekowych, wysoko wysklepione podniebienie, wyraźnie nisko osadzone i odstające uszy, mikrognatia, niski wzrost, obustronne upośledzenie słuchu oraz niepełnosprawność intelektualna. Zdarzały się dodatkowe cechy, takie jak obustronne wnętrostwo, anomalie zastawek serca, asymetria ciała i klatka piersiowa lejkowata."},"cs":{"name":"X-vázaná mandibulofaciální dysostóza","synonyms":["Mandibulofaciální dysostóza, Toriellové typ","X-vázaný syndrom branchiálních oblouků","X-vázaná mandibulofaciální dysostóza s anomáliemi končetin"]},"uk":{"name":"Х-зчеплений щелепно-лицевий дизостоз","synonyms":["Мандибулофаціальний дизостоз, тип Торіелло","Синдром зчепленої з Х-хромосомою гіллястої дуги","Х-зчеплений щелепно-лицевий дизостоз з аномаліями кінцівок"],"definition":"X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum."},"zh":{"name":"X-连锁下颌面骨发育不全","synonyms":["X-连锁下颌面骨发育不全伴肢体畸形"]},"tr":{"name":"X'e bağlı mandibulofasiyal disostoz","synonyms":["X'e bağlı dallı ark sendromu","Mandibulofasiyal dizostoz, Toriello tipi","Ekstremite anomalileri ile X'e bağlı mandibulofasiyal disostoz"]}},"xrefs":[{"source":"OMIM","code":"301950","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":"135565112"},{"source":"MONDO","code":"0010539","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537102","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1844918","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1002","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"4039890[PMID]_8465866[PMID]_12002155[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_4039890[PMID]_8465866[PMID]_12002155[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0009794","label":"Branchial anomaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","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:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000465","label":"Webbed neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100840","label":"Aplasia/Hypoplasia of the eyebrow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001633","label":"Abnormal mitral valve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004414","label":"Abnormality of the pulmonary artery","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100555","label":"Asymmetric growth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001642","label":"Pulmonic stenosis","frequency":"Occasional (29-5%)","criteria":null}]}}